Publications

• Overview of Gene Expression Dynamics during Human Oogenesis/Folliculogenesis. Ducreux B, Ferreux L, Patrat C, Fauque P. Int J Mol Sci. 2023 Dec 19;25(1):33. doi: 10.3390/ijms25010033.
• Developmental epileptic encephalopathy in DLG4-related synaptopathy. Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Epilepsia. 2023 Dec 22.
• Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals. Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5.
• NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis. Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E.Circ Genom Precis Med. 2024 Feb;17(1):e004285.
• Other malignancies in the history of CLL: an international multicenter study conducted by ERIC, the European Research Initiative on CLL, in HARMONY. Chatzikonstantinou T, et al. EClinicalMedicine. 2023 Nov 15;65:102307.
• Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants. Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Am J Hum Genet. 2023 Dec 7;110(12):2015-2028.
• Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Am J Med Genet A. 2024 Mar;194(3):e63445.
• Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Eur J Hum Genet. 2024 Feb;32(2):190-199.
• Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals. Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007. 
• Growth charts in DYRK1A syndrome. Lanvin PL, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, Geneviève D, Ruault V, Fradin M, Pasquier L, Thévenon J, Delobel B, Burglen L, Afenjar A, Faivre L, Francannet C, Guerrot AM, Goldenberg A, Mercier S, Héron D, Lehalle D, Mignot C, Marey I, Charles P, Moutton S, Bézieau S, Bayat A, Piton A, Willems M, Vincent M. Am J Med Genet A. 2024 Jan;194(1):9-16. doi: 10.1002/ajmg.a.63412. 
• Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome. Nishio Y, Kato K, Mau-Them Frederic T, Futagawa H, Quélin C, Masuda S, Vitobello A, Otsuji S, Shawki HH, Oishi H, Thauvin-Robinet C, Takenouchi T, Kosaki K, Takahashi Y, Saitoh S. HGG Adv. 2023 Sep 13;4(4):100238. doi: 10.1016/j.xhgg.2023.100238. 
• Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome. Viora-Dupont E, Denommé-Pichon A, Chevarin M, Patat O, Willems M, Bourgon N, Bruel A, Aubert-Mucca M, Galinier M, Itier R, Decramer S, Piton A, Gerard B, Billon C, Jeunemaitre X, Duffourd Y, Callier P, Thauvin C, Philippe C, Faivre L, Albuisson J, Vitobello A. Am J Med Genet A. 2023 Nov;191(11):2728-2735. 
• Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
  Mazel B, Bertolone G, Baurand A, Cosset E, Sawka C, Robert M, Gautier E, Lançon A, Réda M, Favier L, Dérangère V, Richard C, Binquet C, Boidot R, Goussot V, Albuisson J, Ghiringhelli F, Faivre L, Nambot S. Cancer Med. 2023 Sep;12(18):18786-18796. doi: 10.1002/cam4.6498. ali
• Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases. Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician’s Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. J Med Genet. 2023 Dec 21;61(1):36-46.
• Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Hum Mol Genet. 2023 Oct 4;32(20):2981-2995.
• Experience and expectations of pharmacogenetic tests in France. Verdez S, Bardou M, Duffourd Y, Luu M, Thauvin-Robinet C, Faivre L, Picard N. Therapie. 2023 Jul 17:S0040-5957(23)00103-8.
• Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413.
• Can Cryopreservation in Assisted Reproductive Technology (ART) Induce Epigenetic Changes to Gametes and Embryos? Sciorio R, Manna C, Fauque P, Rinaudo P. J Clin Med. 2023 Jul 2;12(13):4444.
• Assessing the influence of distinct culture media on human pre-implantation development using single-embryo transcriptomics. Ducreux B, Barberet J, Guilleman M, Pérez-Palacios R, Teissandier A, Bourc’his D, Fauque P. Front Cell Dev Biol. 2023 Jun 26;11:1155634.
• Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome. Bruel AL, Ganga AK, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martínez-Gil N, Thauvin-Robinet C, Breslow DK. Hum Mol Genet. 2023 Sep 5;32(18):2822-2831.
• BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. 
• Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants. Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà GML, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. medRxiv [Preprint]. 2023 May 26:2023.05.18.23290169.
• Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions. Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J. Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010.
• The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Rots D, et al. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008.
• POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353.
• Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis. Tran Mau-Them F, Overs A, Bruel AL, Duquet R, Thareau M, Denommé-Pichon AS, Vitobello A, Sorlin A, Safraou H, Nambot S, Delanne J, Moutton S, Racine C, Engel C, De Giraud d’Agay M, Lehalle D, Goldenberg A, Willems M, Coubes C, Genevieve D, Verloes A, Capri Y, Perrin L, Jacquemont ML, Lambert L, Lacaze E, Thevenon J, Hana N, Van-Gils J, Dubucs C, Bizaoui V, Gerard-Blanluet M, Lespinasse J, Mercier S, Guerrot AM, Maystadt I, Tisserant E, Faivre L, Philippe C, Duffourd Y, Thauvin-Robinet C.
  Front Genet. 2023 Apr 20;14:1122985. doi: 10.3389/fgene.2023.1122985.
• Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631.
• Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use. Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, Badreddine A, Boissel M, Derhourhi M, Clément K, Petit JM, Mau-Them FT, Bruel AL, Thauvin-Robinet C, Saveanu A, Cherifi BG, Le Beyec-Le Bihan J, Froguel P, Bonnefond A. Genet Med. 2023 Jul;25(7):100857. doi: 10.1016/j.gim.2023.100857.
• Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting. Soilly AL, Robert-Viard C, Besse C, Bruel AL, Gerard B, Boland A, Piton A, Duffourd Y, Muller J, Poë C, Jouan T, El Doueiri S, Faivre L, Bacq-Daian D, Isidor B, Genevieve D, Odent S, Philip N, Doco-Fenzy M, Lacombe D, Asensio ML, Deleuze JF, Binquet C; DISSEQ Investigators Group; Thauvin-Robinet C, Lejeune C.BMC Health Serv Res. 2023 Apr 21;23(1):386. doi: 10.1186/s12913-023-09373-z.
• SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Am J Hum Genet. 2023 May 4;110(5):790-808.  
• Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool. Tran Mau-Them F, Delanne J, Denommé-Pichon AS, Safraou H, Bruel AL, Vitobello A, Garde A, Nambot S, Bourgon N, Racine C, Sorlin A, Moutton S, Marle N, Rousseau T, Sagot P, Simon E, Vincent-Delorme C, Boute O, Colson C, Petit F, Legendre M, Naudion S, Rooryck C, Prouteau C, Colin E, Guichet A, Ziegler A, Bonneau D, Morel G, Fradin M, Lavillaureix A, Quelin C, Pasquier L, Odent S, Vera G, Goldenberg A, Guerrot AM, Brehin AC, Putoux A, Attia J, Abel C, Blanchet P, Wells CF, Deiller C, Nizon M, Mercier S, Vincent M, Isidor B, Amiel J, Dard R, Godin M, Gruchy N, Jeanne M, Schaeffer E, Maillard PY, Payet F, Jacquemont ML, Francannet C, Sigaudy S, Bergot M, Tisserant E, Ascencio ML, Binquet C, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Front Genet. 2023 Mar 23;14:1099995.
• YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Genet Med. 2023 Jul;25(7):100835.
• Task-related modulation of facial expression processing: An FPVS-EEG study. Baudouin JY, Poncet F, Polinori A, Rekow D, Damon F, Leleu A, Faivre L, Baltenneck N. Emotion. 2023 Dec;23(8):2399-2419.
• CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D’Angelo G, Gennarino VA. J Clin Invest. 2023 May 15;133(10):e165019.
• Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders. Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogné B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L, Vitobello A. Front Cell Dev Biol. 2023 Feb 28;11:1021920.
• Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sheppard SE, et al. Sci Adv. 2023 Mar 10;9(10):eade1463.
• The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing. Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788.
• Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency. Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P, Vitobello A, Philippe C, Bizaoui V, Storr HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR, Cariboni A. Dis Model Mech. 2023 Mar 1;16(3):dmm049996. 
• TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE. Am J Med Genet A. 2023 May;191(5):1261-1272.
• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Saffari A, et al. Brain. 2023 Aug 1;146(8):3273-3288.
• The « extreme phenotype approach » applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles. Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O’Driscoll M, Faivre L, Nambot S. Oncotarget. 2023 Feb 7;14:111-125.
• The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Eur J Hum Genet. 2023 Apr;31(4):461-468.
• Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O’Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Am J Hum Genet. 2023 Mar 2;110(3):499-515.
• A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Genet Med. 2023 Apr;25(4):100018.
• Executive functioning in adolescents and adults with Silver-Russell syndrome. Burgevin M, Lacroix A, Ollivier F, Bourdet K, Coutant R, Donadille B, Faivre L, Manouvrier-Hanu S, Petit F, Thauvin-Robinet C, Toutain A, Netchine I, Odent S. PLoS One. 2023 Jan 20;18(1):e0279745. 
• Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, Murtaza N, Cheng A, Brown C, Afonso A, McCready E, Ronen GM, Howe J, Caye-Eude A, Verloes A, Doble BW, Faivre L, Vitobello A, Scherer SW, Lu Y, Penzes P, Singh KK. Mol Psychiatry. 2023 Apr;28(4):1747-1769.
• A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report. Thomas Q, Vitobello A, Fromont A, Philippe C, Thauvin-Robinet C. Neurol Sci. 2023 May;44(5):1795-1797.
• iHeterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K.
  Eur J Hum Genet. 2023 Mar;31(3):345-352.
• UQCRC2-related mitochondrial complex III deficiency, about 7 patients. Bansept C, Gaignard P, Lebigot E, Eyer D, Delplancq G, Hoebeke C, Mazodier K, Ledoyen A, Rouzier C, Fragaki K, Ait-El-Mkadem Saadi S, Philippe C, Bruel AL, Faivre L, Feillet F, Abi Warde MT. Mitochondrion. 2023 Jan;68:138-144.
• Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism. Di Rocco F, Licci ML, Garde A, Mottolese C, Thauvin-Robinet C, Chevarin M, Guibaud L, Vabres P, Kuentz P, Faivre L. Eur J Med Genet. 2023 Feb;66(2):104678.
• Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature. Thomas Q, Morgant MC, Nambot S, Thauvin-Robinet C, Giroud M. Neurol Sci. 2023 Apr;44(4):1207-1210.
• Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy. Jacquier A, Theuriet J, Fontaine F, Mosbach V, Lacoste N, Ribault S, Risson V, Carras J, Coudert L, Simonet T, Latour P, Stojkovic T, Piard J, Cosson A, Lesca G, Bouhour F, Allouche S, Puccio H, Pegat A, Schaeffer L.
  Brain. 2023 Aug 1;146(8):3470-3483.
• A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
  Garret P, Chevarin M, Vitobello A, Verdez S, Fournier C, Verloes A, Tisserant E, Vabres P, Prevel O, Philippe C, Denommé-Pichon AS, Bruel AL, Mau-Them FT, Safraou H, Boughalem A, Costa JM, Trost D, Thauvin-Robinet C, Faivre L, Duffourd Y. Eur J Hum Genet. 2023 Jul;31(7):761-768.
• Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway. Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Eur J Med Genet. 2023 Jan;66(1):104670.
• Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy. Vezain M, Thauvin-Robinet C, Vial Y, Coutant S, Drunat S, Urtizberea JA, Rolland A, Jacquin-Piques A, Fehrenbach S, Nicolas G, Lecoquierre F, Saugier-Veber P. Hum Genet. 2023 Jan;142(1):125-138.
• CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Brain. 2023 Feb 13;146(2):534-548.
• A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype. Thomas Q, Nambot S, Béjot Y, Philippe C, Faivre L, Duffourd Y, Thauvin-Robinet C, Dupont G. Alzheimer Dis Assoc Disord. 2023 Jan-Mar 01;37(1):82-84.

2023

•  The different clinical facets of SYN1-related neurodevelopmental disorders. The different clinical facets of SYN1-related neurodevelopmental disorders. Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Front Cell Dev Biol.  2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715.
• PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma. Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. J Invest Dermatol. 2022 Dec 23:S0022-202X(22)02891-3. doi: 10.1016/j.jid.2022.09.661.
• Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K. Eur J Hum Genet. 2022 Dec 23. doi: 10.1038/s41431-022-01269-6.
• Infantile haemangioma in a 17th-century painting. Kluger N, Vabres P. J Eur Acad Dermatol Venereol. 2022 Dec 22. doi: 10.1111/jdv.18833.
• Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature. Thomas Q, Morgant MC, Nambot S, Thauvin-Robinet C, Giroud M. Neurol Sci. 2022 Dec 2. doi: 10.1007/s10072-022-06534-6.
• A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort. Garret P, Chevarin M, Vitobello A, Verdez S, Fournier C, Verloes A, Tisserant E, Vabres P, Prevel O, Philippe C, Denommé-Pichon AS, Bruel AL, Mau-Them FT, Safraou H, Boughalem A, Costa JM, Trost D, Thauvin-Robinet C, Faivre L, Duffourd Y. Eur J Hum Genet. 2022 Dec 1. doi: 10.1038/s41431-022-01250-3. 
• Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664.
• OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants. Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A. Front Cell Dev Biol. 2022 Oct 28;10:1021785. doi: 10.3389/fcell.2022.1021785. eCollection 2022.
• Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y.
• New insights into CC2D2A-related Joubert syndrome. Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. J Med Genet. 2022 Nov 1:jmedgenet-2022-108754. doi: 10.1136/jmg-2022-108754.
• Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S. Nat Commun. 2022 Oct 29;13(1):6470. doi: 10.1038/s41467-022-34053-7.
• A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders. Ben-Mahmoud A, Jun KR, Gupta V, Shastri P, de la Fuente A, Park Y, Shin KC, Kim CA, da Cruz AD, Pinto IP, Minasi LB, Silva da Cruz A, Faivre L, Callier P, Racine C, Layman LC, Kong IK, Kim CH, Kim WY, Kim HG. Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061.
• The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay. Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB. Genet Med. 2022 Dec;24(12):2501-2515. doi: 10.1016/j.gim.2022.08.025. 
• An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome. Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20.
• Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006.
• Hepatitis-associated Aplastic Anemia. Gonnot M, Neumann F, Huet F, Maudinas R, Leblanc T, Lacaille F.
  J Pediatr Gastroenterol Nutr. 2022 Nov 1;75(5):553-555. 
• A neural marker of rapid discrimination of facial expression in 3.5- and 7-month-old infants. Poncet F, Leleu A, Rekow D, Damon F, Dzhelyova MP, Schaal B, Durand K, Faivre L, Rossion B, Baudouin JY. Front Neurosci. 2022 Aug 18;16:901013. doi: 10.3389/fnins.2022.901013.
• The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study. Roux-Levy PH, Perrard Y, Mazalovic K, Zabawa C, Meunier-Beillard N, Binquet C, Lejeune C, Faivre L. Eur J Med Genet. 2022 Nov;65(11):104604. doi: 10.1016/j.ejmg.2022.104604.
• TRIT1 deficiency: Two novel patients with four novel variants. Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J. Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603.
• Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008.
• Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients. Verdez S, Thomas Q, Garret P, Verstuyft C, Tisserant E, Vitobello A, Mau-Them FT, Philippe C, Bardou M, Luu M, Bourredjem A, Callier P, Thauvin-Robinet C, Picard N, Faivre L, Duffourd Y. Pharmacogenomics J. 2022 Dec;22(5-6):258-263. doi: 10.1038/s41397-022-00280-w.
• Effect of paternal smoking on pre-implantation embryonic development: a prospective cohort study. Frappier J, Martinaud A, Barberet J, Bruno C, Guilleman M, Amblot C, Guilloteau A, Fauque P. Reprod Fertil Dev. 2022 Sep;34(15):971-979. doi: 10.1071/RD22093.
• Evaluation of Next-Generation Sequencing Applied to Cryptosporidium parvum and Cryptosporidium hominis Epidemiological Study. Bailly E, Valot S, Vincent A, Duffourd Y, Grangier N, Chevarin M, Costa D, Razakandrainibe R, Favennec L, Basmaciyan L, Dalle F. Pathogens. 2022 Aug 18;11(8):938. doi: 10.3390/pathogens11080938.
• Detection of the novel allele, HLA-A*32:165, in a French individual by next-generation sequencing. Verdez S, Chevarin M, Couturier V, Leleu D, Thauvin-Robinet C. HLA. 2022 Dec;100(6):631-632. doi: 10.1111/tan.14783. 
• iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells. Mouka A, Arkoun B, Moison P, Drévillon L, Jarray R, Brisset S, Mayeur A, Bouligand J, Boland-Auge A, Deleuze JF, Yates F, Lemonnier T, Callier P, Duffourd Y, Nitschke P, Ollivier E, Bourdin A, De Vos J, Livera G, Tachdjian G, Maouche-Chrétien L, Tosca L. Sci Rep. 2022 Aug 22;12(1):14302. doi: 10.1038/s41598-022-17337-2.
• Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB. Ramspacher J, Carmignac V, Vabres P, Mazereeuw-Hautier J. Acta Derm Venereol. 2022 Oct 31;102:adv00806. doi: 10.2340/actadv.v102.1141.
• Proximal row carpectomy generates better mid- to long-term outcomes than four-corner arthrodesis for post-traumatic wrist arthritis: A meta-analysis. Chammas PE, Hadouiri N, Chammas M, Ramos-Pascual S, Stirling P, Nover L, Klouche S. Orthop Traumatol Surg Res. 2022 Nov;108(7):103373. doi: 10.1016/j.otsr.2022.103373.
• ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model. Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011.
• Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. 
• DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome. Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM. Int J Mol Sci. 2022 Jul 20;23(14):8001. doi: 10.3390/ijms23148001.
• Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. Ziegler A, Steindl K, Hanner AS, Kumar Kar R, Prouteau C, Boland A, Deleuze JF, Coubes C, Bézieau S, Küry S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D, Park MH. Am J Hum Genet. 2022 Aug 4;109(8):1549-1558. doi: 10.1016/j.ajhg.2022.06.010.
• Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
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• Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007.
• Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Rosenhahn E, O’Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. 
• Quality of life of children with capillary malformations of the lower limbs: Evolution and associated factors. Data from the French national paediatric cohort, CONAPE. Robert J, Marchand A, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Samimi M, Morel B, Caille A, Maruani A, Leducq S; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Ann Dermatol Venereol. 2022 Dec;149(4):271-275. doi: 10.1016/j.annder.2022.03.010. 
• Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome. Marbach F, Lipska-Ziętkiewicz BS, Knurowska A, Michaud V, Margot H, Lespinasse J, Tran Mau Them F, Coubes C, Park J, Grosch S, Roggia C, Grasshoff U, Kalsner L, Denommé-Pichon AS, Afenjar A, Héron B, Keren B, Caro P, Schaaf CP. Am J Med Genet A. 2022 Sep;188(9):2627-2636. doi: 10.1002/ajmg.a.62884. 
• Assessing a New Prescreening Score for the Simplified Evaluation of the Clinical Quality and Relevance of eHealth Apps: Instrument Validation Study. Wagneur N, Callier P, Zeitoun JD, Silber D, Sabatier R, Denis F. J Med Internet Res. 2022 Jul 5;24(7):e39590.
• An update on drug-drug interactions associated with proton pump inhibitors. Ben Ghezala I, Luu M, Bardou M. Expert Opin Drug Metab Toxicol. 2022 May;18(5):337-346. doi: 10.1080/17425255.2022.2098107. 
• Quality of Life in the First Year after Ischemic Stroke Treated with Acute Revascularization Therapy. Do Rego AM, Duloquin G, Sauvant M, Amaral S, Thomas Q, Devilliers H, Béjot Y. J Clin Med. 2022 Jun 6;11(11):3240. doi: 10.3390/jcm11113240.
• Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009.
• SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS, Keren B, Mignot C, Doco-Fenzy M, Rodan L, Ramsey K, Narayanan V, Jones JR, Prijoles EJ, Mitchell WG, Ozmore JR, Juliette K, Torti E, Normand EA, Granger L, Petersen AK, Au MG, Matheny JP, Phornphutkul C, Chambers MK, Fernández-Ramos JA, López-Laso E, Kruer MC, Bakhtiari S, Zollino M, Morleo M, Marangi G, Mei D, Pisano T, Guerrini R, Louie RJ, Childers A, Everman DB, Isidor B, Audebert-Bellanger S, Odent S, Bonneau D, Gilbert-Dussardier B, Redon R, Bézieau S, Laumonnier F, Stoeckli ET, Toutain A, Vuillaume ML. Hum Mol Genet. 2022 Sep 29;31(19):3325-3340. doi: 10.1093/hmg/ddac114.
• Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients. Verdez S, Thomas Q, Garret P, Verstuyft C, Tisserant E, Vitobello A, Mau-Them FT, Philippe C, Bardou M, Luu M, Bourredjem A, Callier P, Thauvin-Robinet C, Picard N, Faivre L, Duffourd Y. Pharmacogenomics J. 2022 Dec;22(5-6):258-263. doi: 10.1038/s41397-022-00280-w. 
• Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study. Gerard H, Iline N, Martel H, Nguyen K, Richard P, Donal E, Eicher JC, Huttin O, Selton-Suty C, Raud-Raynier P, Jondeau G, Mansencal N, Sawka C, Ader F, Pruny JF, Casalta AC, Michel N, Donghi V, Faivre L, Giorgi R, Charron P, Habib G. Front Cardiovasc Med. 2022 May 2;9:856160. doi: 10.3389/fcvm.2022.856160.
• Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O’Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004.
• Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, Sorlin A, Nambot S, Delanne J, Chevarin M, Pöe C, Thevenon J, Lehalle D, Jean-Marçais N, Kuentz P, Lambert L, El Chehadeh S, Schaefer E, Willems M, Laffargue F, Francannet C, Fradin M, Gaillard D, Blesson S, Goldenberg A, Capri Y, Sagot P, Rousseau T, Simon E, Binquet C, Ascencio ML, Duffourd Y, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C. Eur J Hum Genet. 2022 Aug;30(8):967-975. doi: 10.1038/s41431-022-01117-7. 
• UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking. Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu de Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997.
• Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B. Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011.
• Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study. Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, Denis-Musquer M, Turnpenny PD, Coutton C, Vieville G, Thevenon J, Larson A, Petit F, Boudry E, Smol T, Delobel B, Duban-Bedu B, Fallerini C, Mari F, Lo Rizzo C, Renieri A, Caberg JH, Denommé-Pichon AS, Tran Mau-Them F, Maystadt I, Courtin T, Keren B, Mouthon L, Charles P, Cuinat S, Isidor B, Theis P, Müller C, Kulisic M, Türkmen S, Stieber D, Bourgeois D, Scalais E, Klink B. Clin Genet. 2022 Aug;102(2):117-122. doi: 10.1111/cge.14141.
• Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L. Am J Med Genet A. 2022 Jul;188(7):2036-2047. doi: 10.1002/ajmg.a.62739
• The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol. Lejeune C, Robert-Viard C, Meunier-Beillard N, Borel MA, Gourvès L, Staraci S, Soilly AL, Guillemin F, Seror V, Achit H, Bouctot M, Asensio ML, Briffaut AS, Delmas C, Bruel AL, Benoit A, Simon A, Gerard B, Hadj Abdallah H, Lyonnet S, Faivre L, Thauvin-Robinet C, Odent S, Heron D, Sanlaville D, Frebourg T, Muller J, Duffourd Y, Boland A, Deleuze JF, Espérou H, Binquet C, Dollfus H. Front Genet. 2022 Apr 4;13:852472. doi: 10.3389/fgene.2022.852472.
• Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002.
• Access to social services for undiagnosed rare disease patients in France: A pilot study. Pélissier A, Wallut L, Giot G, Domenighetti L, Demougeot L, Faivre L. Eur J Med Genet. 2022 May;65(5):104494. doi: 10.1016/j.ejmg.2022.104494.
• A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype. Thomas Q, Nambot S, Béjot Y, Philippe C, Faivre L, Duffourd Y, Thauvin-Robinet C, Dupont G. Alzheimer Dis Assoc Disord. 2023 Jan-Mar 01;37(1):82-84. doi: 10.1097/WAD.0000000000000503.
• Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France. Levaillant L, Huet F, Bretones P, Corne C, Dupuis C, Reynaud R, Somma C, Barat P, Corcuff JB, Bouhours-Nouet N, Gauthereau V, Polak M, Leger J, Cheillan D, Coutant R. Arch Pediatr. 2022 May;29(4):253-257. doi: 10.1016/j.arcped.2022.02.001.
• Atypical phenotype of a patient with Bardet-Biedl syndrome type 4. Sloboda N, Lambert L, Ciorna V, Bruel AL, Tran Mau-Them F, Gomola V, Lemelle JL, Klein O, Camoin-Schweitzer MC, Magnavacca M, Legagneur C, Ezsto ML, Bonnet C, Philippe C, Leheup B. Mol Genet Genomic Med. 2022 May;10(5):e1869. doi: 10.1002/mgg3.1869.
• Quality of life and mental health of adolescents and adults with Silver-Russell syndrome. Burgevin M, Lacroix A, Bourdet K, Coutant R, Donadille B, Faivre L, Manouvrier-Hanu S, Petit F, Thauvin-Robinet C, Toutain A, Netchine I, Odent S. Eur J Med Genet. 2022 May;65(5):104482. doi: 10.1016/j.ejmg.2022.104482.
• Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517.
• Mental health and working conditions among French medical students: A nationwide study. Rolland F, Hadouiri N, Haas-Jordache A, Gouy E, Mathieu L, Goulard A, Morvan Y, Frajerman A. J Affect Disord. 2022 Jun 1;306:124-130. doi: 10.1016/j.jad.2022.03.001. 
• DNA methylation profiles after ART during human lifespan: a systematic review and meta-analysis. Barberet J, Ducreux B, Guilleman M, Simon E, Bruno C, Fauque P. Hum Reprod Update. 2022 Aug 25;28(5):629-655. doi: 10.1093/humupd/dmac010.
• Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
  Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. 
• First use of Simulation in Therapeutic Patient Education (S-TPE) in adults with diabetes: a pilot study. Pennecot C, Luu M, Marchand C, Gagnayre R, Dechannes N, Rudoni S, Hilaire AM, Demongeot A, Capelle D, Bardou M. BMJ Open. 2022 Feb 28;12(2):e049454. doi: 10.1136/bmjopen-2021-049454.
• Does underlying infertility in natural conception modify the epigenetic control of imprinted genes and transposable elements in newborns? Barberet J, Binquet C, Guilleman M, Romain G, Bruno C, Martinaud A, Ginod P, Cavalieri M, Amblot C, Choux C, Fauque P. Reprod Biomed Online. 2022 Apr;44(4):706-715. doi: 10.1016/j.rbmo.2022.01.004.
• Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C; Nantes Referral Center for inherited cardiac arrhythmia; de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. 
• Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O’Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003.
• First evidence of SOX2 mutations in Peters’ anomaly: Lessons from molecular screening of 95 patients. Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. 
• Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
  Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, Ciolfi A, Pedace L, Miele E, Genevieve D, Heide S, Alders M, Zampino G, Merla G, Fradin M, Bieth E, Bonneau D, Dieterich K, Fergelot P, Schaefer E, Faivre L, Vitobello A, Maitz S, Fischetto R, Gervasini C, Piccione M, van de Laar I, Tartaglia M, Sadikovic B, Lebre AS. Int J Mol Sci. 2022 Feb 5;23(3):1815. doi: 10.3390/ijms23031815.
• Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D’Arrigo S, Ciaccio C, Pantaleoni C, Castello R; TUDP Study Group; McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Am J Med Genet A. 2022 Jun;188(6):1667-1675. doi: 10.1002/ajmg.a.62673.
• Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH. Tisserant E, Vitobello A, Callegarin D, Verdez S, Bruel AL, Aho Glele LS, Sorlin A, Viora-Dupont E, Konyukh M, Marle N, Nambot S, Moutton S, Racine C, Garde A, Delanne J, Tran-Mau-Them F, Philippe C, Kuentz P, Poulleau M, Payet M, Poe C, Thauvin-Robinet C, Faivre L, Mosca-Boidron AL, Thevenon J, Duffourd Y, Callier P. Ann Hum Genet. 2022 Jul;86(4):171-180. doi: 10.1111/ahg.12459. 
• Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel AL, Cappuccio G, Brunetti-Pierri N, Willems M, Isidor B, Park K, Balasubramanian M. Am J Med Genet A. 2022 May;188(5):1497-1514. doi: 10.1002/ajmg.a.62677. 
• Dermatoscopic and clinical features of congenital or congenital-type nail matrix nevi: A multicenter prospective cohort study by the International Dermoscopy Society. Pham F, Boespflug A, Duru G, Phan A, Poulalhon N, Weiler L, Tanaka M, Lallas A, Ogata D, Davaine AC, Bahadoran P, Balguerie X, Kamińska-Winciorek G, Tromme I, Correia O, Kim MB, Marghoob AA, Linda Martin, Guitera P, Meziane M, Miquel J, Mun JH, Argenziano G, Bessis D, Bourke J, Mijuskovic Z, Chiaverini C, Corven-Benoit C, Droitcourt C, Skowron F, Marque M, Zalaudek I, Rosendahl C, Moreno-Ramirez D, Vabres P, Haenssle H, Malvehy J, Puig S, Robert C, Schopf TR, Scope A, Dalle S, Thomas L. J Am Acad Dermatol. 2022 Sep;87(3):551-558. doi: 10.1016/j.jaad.2022.01.028.
• CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. Rouxel F, Relator R, Kerkhof J, McConkey H, Levy M, Dias P, Barat-Houari M, Bednarek N, Boute O, Chatron N, Cherik F, Delahaye-Duriez A, Doco-Fenzy M, Faivre L, Gauthier LW, Heron D, Hildebrand MS, Lesca G, Lespinasse J, Mazel B, Menke LA, Morgan AT, Pinson L, Quelin C, Rossi M, Ruiz-Pallares N, Tran-Mau-Them F, Van Kessel IN, Vincent M, Weber M, Willems M, Leguyader G, Sadikovic B, Genevieve D. Genet Med. 2022 May;24(5):1096-1107. doi: 10.1016/j.gim.2021.12.016. 
• disorder Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011.
• Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075.
• DNA methylation episignature in Gabriele-de Vries syndrome. Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D. Genet Med. 2022 Apr;24(4):905-914. doi: 10.1016/j.gim.2021.12.003. 
• Detecting inversions in routine molecular diagnosis in MMR genes. Kasper E, Coutant S, Manase S, Vasseur S, Macquère P, Bougeard G, Faivre L, Ingster O, Baert-Desurmont S, Houdayer C. Fam Cancer. 2022 Oct;21(4):423-428. doi: 10.1007/s10689-021-00287-5.
• [Acute management of spontaneous intracerebral hemorrhage]. Duloquin G, Graber M, Baptiste L, Mohr S, Garnier L, Ndiaye M, Thomas Q, Hervieu-Bègue M, Osseby GV, Giroud M, Béjot Y. Rev Med Interne. 2022 May;43(5):293-300. doi: 10.1016/j.revmed.2021.11.004.
• Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A. Slavotinek A, Lefebvre M, Brehin AC, Thauvin C, Patrier S, Sparks TN, Norton M, Yu J, Huang E. Eur J Med Genet. 2022 Feb;65(2):104407. doi: 10.1016/j.ejmg.2021.104407.
• De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O’Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. 
• Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons. van Rhijn JR, Shi Y, Bormann M, Mossink B, Frega M, Recaioglu H, Hakobjan M, Klein Gunnewiek T, Schoenmaker C, Palmer E, Faivre L, Kittel-Schneider S, Schubert D, Brunner H, Franke B, Nadif Kasri N. Neurobiol Dis. 2022 Feb;163:105587. doi: 10.1016/j.nbd.2021.105587.
• GM3 synthase deficiency in non-Amish patients. Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C. Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007.
• Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Genet Med. 2022 Jan;24(1):179-191. doi: 10.1016/j.gim.2021.09.005.
• Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant. de Boer E, Yaldiz B, Denommé-Pichon AS, Matalonga L, Laurie S; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA. Eur J Med Genet. 2022 Jan;65(1):104402. doi: 10.1016/j.ejmg.2021.104402.
• The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308.
• Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. Denommé-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L, Thauvin-Robinet C. Eur J Hum Genet. 2022 May;30(5):567-576. doi: 10.1038/s41431-021-00998-4.
• MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z.
• ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA, Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson GR, Pruniski B, Goyette AM, Duffourd Y, Thauvin-Robinet C, Philippe C, Faivre L. Eur J Hum Genet. 2022 Jan;30(1):111-116. doi: 10.1038/s41431-021-00985-9.
• Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. Riant F, Roos C, Roubertie A, Barbance C, Hadjadj J, Auvin S, Baille G, Beltramone M, Boulanger C, Cahn A, Cata F, Cheuret E, Cuvellier JC, Defo A, Demarquay G, Donnet A, Gaillard N, Massardier E, Guy N, Lamoureux S, Le Moigno L, Lucas C, Ratiu D, Redon S, Rey C, Thauvin C, Viallet F, Tournier-Lasserve E, Ducros A. Neurology. 2022 Jan 4;98(1):e51-e61. doi: 10.1212/WNL.0000000000012947. 
• Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Eur J Hum Genet. 2022 Mar;30(3):271-281. doi: 10.1038/s41431-021-00960-4.
• O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Velmans C, O’Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. 
• A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027.
• Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway. Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators. Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715. 
• High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, Béjot Y, Philippe C, Thauvin-Robinet C, Moutton S. J Med Genet. 2022 May;59(5):445-452. doi: 10.1136/jmedgenet-2020-107369. 
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. 

• Complete agenesis of the corpus callosum in phacomatosis pigmentovascularis cesioflammea: a manifestation of mosaicism? Abasq-Thomas C, Audebert S, Carmignac V, Brosseau-Beauvir A, Brenaut E, Misery L, Vabres P. Eur J Dermatol. 2021 Apr 1;31(2):248-249.
• Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review. Agopiantz M, Sorlin A, Vabres P, Leheup B, Carmignac V, Malaplate-Armand C, Diligent C, Bonnet C, Gauchotte G. J Gynecol Obstet Hum Reprod. 2021.
• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. Aref-Eshghi E, Kerkhof J, Pedro VP, France GD, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Am J Hum Genet. 2021 Jun 3;108(6):1161-1163.
• Dissecting indirect genetic effects from peers in laboratory mice. Baud A, Casale FP, Barkley-Levenson AM, Farhadi N, Montillot C, Yalcin B, Nicod J, Palmer AA, Stegle O. Genome Biol. 2021 Jul 26;22(1):216.
• New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. Genet Med. 2021 Mar;23(3):543-554.
• Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study. Binquet C, Lejeune C, Faivre L, Bouctot M, Asensio ML, Simon A, Deleuze JF, Boland A, Guillemin F, Seror V, Delmas C, Espérou H, Duffourd Y, Lyonnet S, Odent S, Heron D, Sanlaville D, Frebourg T, Gerard B, Dollfus H.
  Front Genet. 2022 Feb 1;12:766964.
• A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A. Sci Adv. 2021 Feb 5;7(6):eabc6160.
• Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway. Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P. Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715.
• Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Genet Med. 2021 Aug;23(8):1484-1491. doi: 10.1038/s41436-021-01161-6.
• Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome.
  Carmignac V, Salomon G, Severino-Freire M, Duffourd Y, Chevarin M, Vabres P, Mazereeuw-Hautier J. Br J Dermatol. 2021 Dec;185(6):1247-1249.
• Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V, Assoumani J, Van Maldergem L, Piton A, Gérard B, Tran Mau-Them F, Bruel AL, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M, Lavillaureix A.
  Clin Genet. 2021 May;99(5):732-739.
• Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder. Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A. Genet Med. 2021 Nov;23(11):2150-2159.
• The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders. Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C. Mol Genet Metab Rep. 2021 Oct 18;29:100812.
• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. Am J Hum Genet. 2021 Feb 4;108(2):346-356.
• Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. Denommé-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L, Thauvin-Robinet C. Eur J Hum Genet. 2022 May;30(5):567-576.
• Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Eur J Hum Genet. 2022 Mar;30(3):271-281
• Re-focusing on Agnathia-Otocephaly complex. Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J. Clin Oral Investig. 2021 Mar;25(3):1353-1362.
• Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy. Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens AAHJ, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R. Sci Rep. 2021 Aug 12;11(1):16412.
• Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations. Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau AC, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel AL, Mau-Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin-Robinet C, Faivre L. Clin Genet. 2021 Mar;99(3):407-417.
• Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L. Clin Genet. 2021 May;99(5):650-661.
• Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. Ghesh L, Besnard T, Nizon M, Trochu E, Landeau-Trottier G, Breheret F, Thauvin-Robinet C, Bruel AL, Kuentz P, Coubes C, Cuisset L, Mignot C, Keren B, Bézieau S, Cogné B. Hum Mutat. 2021 May;42(5):498-505.
• Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium, Earl RK, Nowakowski T, Bernier RA, Eichler EE. Genome Med. 2021 Apr 19;13(1):63.
• Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization. Gori I, George R, Purkiss AG, Strohbuecker S, Randall RA, Ogrodowicz R, Carmignac V, Faivre L, Joshi D, Kjær S, Hill CS. Elife. 2021 Jan 8;10:e63545.
• Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18. Hadouiri N, Thomas Q, Darmency V, Dulieu V, De Rougemont MM, Bruel AL, Duffourd Y, Lecoquierre F, Colomb B, Perez-Martin S, Ornetti P, Blanchard O, Sorlin A, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C. Clin Genet. 2021 Nov;100(5):643-644.
• EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF; UCLA California Center for Rare Disease, Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. Orphanet J Rare Dis. 2021 Mar 18;16(1):136.
• PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Neurol Genet. 2021 Nov 15;7(6):e613.
• Periodontal disorders in a cohort of patients with Cohen syndrome. Lafon A, Faivre L, Seux D, Gautier E, Duplomb L, Grogogeat B, Marcelet A, Laforest L. Spec Care Dentist. 2021 Jan;41(1):118-124.
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. J Med Genet. 2022 Jun;59(6):559-567.
• Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome. Le Tanno P, Folacci M, Revilloud J, Faivre L, Laurent G, Pinson L, Amedro P, Millat G, Janin A, Vivaudou M, Roux-Buisson N, Fauré J. Front Genet. 2021 Nov 25;12:773177.
• Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. J Med Genet. 2021 Jun;58(6):400-413.
• The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. Genet Med. 2021 Feb;23(2):352-362.
• Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature. Lesieur-Sebellin M, Capri Y, Grisval M, Courtin T, Burtz A, Thevenon J, Buratti J, Lejeune E, Faivre L, Keren B. Eur J Med Genet. 2021 Nov;64(11):104323.
• EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder. Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Maldergem LV, Dupont C, Verloes A, Tabet AC. Clin Genet. 2021 Oct;100(4):396-404.
• Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. HGG Adv. 2021 Dec 3;3(1):100075.
• Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother. Longobardi E, Miceli F, Secondo A, Cicatiello R, Izzo A, Tinto N, Moutton S, Tran Mau-Them F, Vitobello A, Taglialatela M. Stem Cell Res. 2022 May;53:102311.
• Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G. Cell Rep. 2021 Jun 8;35(10):109226.
• Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial. Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B. JAMA Dermatol. 2021 Nov 1;157(11):1289-1298.
• 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network, Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. Orphanet J Rare Dis. 2021 Aug 4;16(1):345.
• Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants. Moortgat S, Manfroid I, Pendeville H, Freeman S, Bourdouxhe J, Benoit V, Merhi A, Philippe C, Faivre L, Maystadt I. Hum Mutat. 2021 Jul;42(7):827-834.
• SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2. Niewiadomska-Cimicka A, Doussau F, Perot JB, Roux MJ, Keime C, Hache A, Piguet F, Novati A, Weber C, Yalcin B, Meziane H, Champy MF, Grandgirard E, Karam A, Messaddeq N, Eisenmann A, Brouillet E, Nguyen HHP, Flament J, Isope P, Trottier Y. J Neurosci. 2021 Jun 2;41(22):4910-4936.
• Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Hum Genet. 2021 Jul;140(7):1109-1120.
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M. Am J Hum Genet. 2021 Mar 4;108(3):502-516.
• Variants of human CLDN9 cause mild to profound hearing loss. Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Hum Mutat. 2021 Oct;42(10):1321-1335.
• A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Ravel JM, Dreumont N, Mosca P, Smith DEC, Mendes MI, Wiedemann A, Coelho D, Schmitt E, Rivière JB, Tran Mau-Them F, Thevenon J, Kuentz P, Polivka M, Fuchs SA, Kok G, Thauvin-Robinet C, Guéant JL, Salomons GS, Faivre L, Feillet F. Hum Mutat. 2021 Dec;42(12):1576-1583.
• Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al. Riccardi F, Astier A, Grisval M, Maillard A, Michaud V, Badens C, Gordon CT, Trimouille A, Faivre L, Amiel J, Sigaudy S, Gorokhova S. Genet Med. 2021 Oct;23(10):2003-2004.
• Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort. Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A. Clin Genet. 2021 Apr;99(4):519-528.
• DLG4-related synaptopathy: a new rare brain disorder. Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O’Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Genet Med. 2021 May;23(5):888-899.
• Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study. Roux-Levy PH, Sanlaville D, De Freminville B, Touraine R, Masurel A, Gueneau I, Cotinaud-Ricou A, Chancenotte S, Debomy F, Minot D, Bournez M, Rousseau I, Daniel S, Gautier E, Lacombe D, Taupiac E, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Busa T, Edery CP, Cornaton J, Gallard J, Héron D, Rastel C, Thauvin-Robinet C, Verloes A, Binquet C, Faivre L, Lejeune C. Eur J Med Genet. 2021 Oct;64(10):104290.
• [French Genomic Medicine Plan 2025 (PFMG2025): France enters the era of genomic medicine]. Sanlaville D, Vidaud M, Thauvin-Robinet C, Nowak F, Lethimonnier F. Rev Prat. 2021 Dec;71(10):1061-1064.
• Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Cinzia C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D; DDD Study, Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM Jr, Balasubramanian M. Am J Med Genet A. 2021 Nov;185(11):3446-3458.
• Expanding the clinical spectrum of mosaic BRAF skin phenotypes. Sorlin A, Carmignac V, Amiel J, Boccara O, Fraitag S, Maruani A, Theiler M, Weibel L, Duffourd Y, Philippe C, Thauvin-Robinet C, Faivre L, Rivière JB, Vabres P, Kuentz P. J Eur Acad Dermatol Venereol. 2021 Oct;35(10):e690-e693.
• NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Genet Med. 2021 Feb;23(2):363-373.
• A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice. Szpak M, Collins SC, Li Y, Liu X, Ayub Q, Fischer MC, Vancollie VE, Lelliott CJ, Xue Y, Yalcin B, Yang H, Tyler-Smith C. Mol Biol Evol. 2021 Dec 9;38(12):5655-5663.
• Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features. Tenorio-Castaño JA, Arias P, Fernández-Jaén A, Lay-Son G, Bueno-Lozano G, Bayat A, Faivre L, Gallego N, Ramos S, Butler KM, Morel C, Hadjiyannakis S, Lespinasse J, Tran-Mau-Them F, Santos-Simarro F, Pinson L, Martínez-Monseny AF, O’Callaghan Cord MDM, Álvarez S, Stolerman ES, Washington C, Ramos FJ, The S O G R I Consortium, Lapunzina P. Clin Genet. 2021 Oct;100(4):405-411.
• [Focus on genomic medicine]. C. Thauvin, F. Nowak.
• Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations. Theiler M, Weibel L, Christen-Zaech S, Carmignac V, Sorlin A, Neuhaus K, Chevarin M, Thauvin-Robinet C, Philippe C, Faivre L, Vabres P, Kuentz P. J Eur Acad Dermatol Venereol. 2021 Oct;35(10):2085-2090.
• Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Genet Med. 2021 Oct;23(10):1901-1911.
• High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, Béjot Y, Philippe C, Thauvin-Robinet C, Moutton S. J Med Genet. 2022 May;59(5):445-452.
• Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel AL, Denommé-Pichon AS, Nambot S, Delanne J, Moutton S, Sorlin A; Orphanomix Physician’s Group, Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron AL, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C. Mol Genet Genomic Med. 2021 Dec;9(12):e1836.
• Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Clin Genet. 2021 Oct;100(4):386-395.
• TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. Hum Mutat. 2021 Apr;42(4):445-459.
• O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Velmans C, O’Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. J Med Genet. 2021 Jul 28:jmedgenet-2020-107470.
• JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Genet Med. 2021 Feb;23(2):374-383.
• Health care transition for patients with vascular malformations: a French multicenter cross-sectional study. Vermersch C, Boccara O, Chiaverini C, Mazereeuw-Hautier J, Sigg N, Mallet S, Vabres P, Herbreteau D, Le Touze A, Maruani A, Leducq S; Research Group of the Société Française de Dermatologie Pédiatrique (French Society of Pediatric Dermatology). Orphanet J Rare Dis. 2021 Aug 6;16(1):352.
• Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Am J Hum Genet. 2021 May 6;108(5):857-873.
• Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Genet Med. 2021 Aug;23(8):1474-1483.
• Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137.
• Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, ‘t Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Eur J Hum Genet. 2021 Sep;29(9):1325-1331.

• Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations. Jourdain AS, Petit F, Odou MF, Balduyck M, et al Hum Mutat. 2020 Jan;41(1):222-239. doi: 10.1002/humu.23912. Epub 2019 Sep 23. PMID: 31502745.
• Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Zawerton A, Mignot C, Sigafoos A, Blackburn et al. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. PMID: 31578471.
• Growth charts in Kabuki syndrome 1. Ruault V, Corsini C, Duflos C, Akouete S, et al. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. PMID: 31876365.
• Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations. Snanoudj S, Molin A, Colson C, Coudray N, et al. J Bone Miner Res. 2020 May;35(5):913-919. doi: 10.1002/jbmr.3948. Epub 2020 Jan 13. PMID: 31886927.
• Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. Assoum M, Bruel AL, Crenshaw ML, Delanne J, Wentzensen IM, McWalter K, Dent KM, Vitobello A, Kuentz P, Thevenon J, Duffourd Y, Thauvin-Robinet C, Faivre L. Am J Med Genet A. 2020 Apr;182(4):792-797. doi: 10.1002/ajmg.a.61487. Epub 2020 Jan 18. PMID: 31953988.
• Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. Delplancq G, Tarris G, Vitobello A, Nambot S, Sorlin A, Philippe C, Carmignac V, Duffourd Y, Denis C, Eicher JC, Chevarin M, Millat G, Khallouk B, Rousseau T, Falcon-Eicher S, Vasiljevic A, Harizay FT, Thauvin-Robinet C, Faivre L, Kuentz P. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):129-135. doi: 10.1002/ajmg.c.31766. Epub 2020 Jan 22. PMID: 31965688.
• Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization. Uguen K, Jubin C, Duffourd Y, Bardel C, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1114. doi: 10.1002/mgg3.1114. Epub 2020 Jan 27. PMID: 31985172.
• Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation. Da Costa R, De Almeida S, Chevarin M, Hadj-Rabia S, Leclerc-Mercier S, Thauvin-Robinet C, Garrido C, Faivre L, Vabres P, Duplomb L, Jego G. Biochem Biophys Res Commun. 2020 Sep 24;530(3):520-526. doi: 10.1016/j.bbrc.2020.04.146. Epub 2020 Jun 30. PMID: 32620236.
• De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Nambot S, Faivre L, Mirzaa G, Thevenon J, et al. Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. PMID: 32005960.
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, et al. Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. PMID: 31997314.
• Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L.  Eur J Hum Genet. 2020 Aug;28(8):1044-1055. doi: 10.1038/s41431-020-0582-3. Epub 2020 Feb 18. PMID: 32071410.
• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B.  Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. PMID: 32109418.
• Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D.  Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. PMID: 32109419.
• Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D’Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH.  Neuron. 2020 May 6;106(3):404-420.e8. doi: 10.1016/j.neuron.2020.01.042. Epub 2020 Mar 4. PMID: 32135084.
• De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A.  Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19. PMID: 32197073.
• Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM.  Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26. PMID: 32220290.
• Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O’Roak BJ, Faivre L.  J Med Genet. 2020 Jul;57(7):466-474. doi: 10.1136/jmedgenet-2019-106425. Epub 2020 Apr 10. PMID: 32277047.
• Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. Ranza E, Guimier A, Verloes A, Capri Y, Marques C, Auclair M, Mathieu-Dramard M, Morin G, Thevenon J, Faivre L, Thauvin-Robinet C, Innes AM, Dyment DA, Vigouroux C, Amiel J.  Clin Genet. 2020 Jul;98(1):10-18. doi: 10.1111/cge.13746. Epub 2020 Apr 22. PMID: 32233106.
• Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Bruel AL, Vitobello A, Tran Mau-Them F, Nambot S, Sorlin A, Denommé-Pichon AS, Delanne J, Moutton S, Callier P, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Clin Genet. 2020 Apr 26. doi: 10.1111/cge.13764. Epub ahead of print. PMID: 32335911.
• Factors Associated With Short-term Relapse in Patients With Pemphigus Who Receive Rituximab as First-line Therapy: A Post Hoc Analysis of a Randomized Clinical Trial. Mignard C, Maho-Vaillant M, Golinski ML, Balayé P, Prost-Squarcioni C, Houivet E, Calbo SB, Labeille B, Picard-Dahan C, Konstantinou MP, Chaby G, Richard MA, Bouaziz JD, Duvert-Lehembre S, Delaporte E, Bernard P, Caux F, Alexandre M, Ingen-Housz-Oro S, Vabres P, Quereux G, Dupuy A, Debarbieux S, Avenel-Audran M, D’Incan M, Bédane C, Bénéton N, Jullien D, Dupin N, Misery L, Machet L, Beylot-Barry M, Dereure O, Sassolas B, Benichou J, Joly P, Hébert V; French Study Group on Autoimmune Bullous Skin Diseases.  JAMA Dermatol. 2020 May 1;156(5):545-552. doi: 10.1001/jamadermatol.2020.0290. PMID: 32186656.
• Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, Johnson D, Rooke B, Moss C, Cole T, Faivre L.  Clin Genet. 2020 Jul;98(1):19-31. doi: 10.1111/cge.13752. Epub 2020 May 4. PMID: 32291752.
• Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O’Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT . Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. PMID: 32376980.
• Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. Tran Mau-Them F, Moutton S, Racine C, Vitobello A, Bruel AL, Nambot S, Kushner SA, de Vrij FMS, Lehalle D, Jean-Marçais N, Lecoquierre F, Delanne J, Thevenon J, Poe C, Jouan T, Chevarin M, Geneviève D, Willems M, Coubes C, Houcinat N, Masurel-Paulet A, Mosca-Boidron AL, Tisserant E, Callier P, Sorlin A, Duffourd Y, Faivre L, Philippe C, Thauvin-Robinet C. Hum Genet. 2020 Nov;139(11):1381-1390. doi: 10.1007/s00439-020-02178-8. Epub 2020 May 12. PMID: 32399599.
• De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L.  J Med Genet. 2020 May 14:jmedgenet-2019-106508. doi: 10.1136/jmedgenet-2019-106508. Epub ahead of print. PMID: 32409512.
• Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Asselin L, Rivera Alvarez J, Heide S, Bonnet CS, Tilly P, Vitet H, Weber C, Bacino CA, Baranaño K, Chassevent A, Dameron A, Faivre L, Hanchard NA, Mahida S, McWalter K, Mignot C, Nava C, Rastetter A, Streff H, Thauvin-Robinet C, Weiss MM, Zapata G, Zwijnenburg PJG, Saudou F, Depienne C, Golzio C, Héron D, Godin JD. Nat Commun. 2020 May 15;11(1):2441. doi: 10.1038/s41467-020-16294-6. PMID: 32415109.
• Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Tran Mau-Them F, Sorlin A, Jouan T, Duffourd Y, Tisserant E, Philippe C, Vitobello A, Thevenon J, Faivre L, Thauvin-Robinet C.  Clin Genet. 2020 Jul;98(1):43-55. doi: 10.1111/cge.13755. Epub 2020 May 29. PMID: 32279304.
• NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. Bertacchi M, Romano AL, Loubat A, Tran Mau-Them F, Willems M, Faivre L, Khau van Kien P, Perrin L, Devillard F, Sorlin A, Kuentz P, Philippe C, Garde A, Neri F, Di Giaimo R, Oliviero S, Cappello S, D’Incerti L, Frassoni C, Studer M.  EMBO J. 2020 Jul 1;39(13):e104163. doi: 10.15252/embj.2019104163. Epub 2020 Jun 2. PMID: 32484994.
• De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study, Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. PMID: 32553196.
• Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.  Heide S, Spentchian M, Valence S, Buratti J, Mach C, Lejeune E, Olin V, Massimello M, Lehalle D, Mouthon L, Whalen S, Faudet A, Mignot C, Garel C, Blondiaux E, Lefebvre M, Quenum-Miraillet G, Chantot-Bastaraud S, Milh M, Bretelle F, Portes VD, Guibaud L, Putoux A, Tsatsaris V, Spodenkiewic M, Layet V, Dard R, Mandelbrot L, Guet A, Moutton S, Gorce M, Nizon M, Vincent M, Beneteau C, Rocchisanni MA, Benachi A, Saada J, Attié-Bitach T, Guilbaud L, Maurice P, Friszer S, Jouannic JM, de Villemeur TB, Moutard ML, Keren B, Héron D. Genet Med. 2020 Jun 22. doi: 10.1038/s41436-020-0872-8. Epub ahead of print. PMID: 32565546.
• AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case. Ramond F, Rio M, Héron B, Imbard A, Marie S, Billiemaz K, Denommé-Pichon AS, Kuentz P, Ceballos I, Piraud M, Vincent MF, Touraine R.  J Inherit Metab Dis. 2020 Jun 18. doi: 10.1002/jimd.12274. Epub ahead of print. PMID: 32557644.
• Re-focusing on Agnathia-Otocephaly complex. Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J. Clin Oral Investig. 2020 Jul 9. doi: 10.1007/s00784-020-03443-w. Epub ahead of print. PMID: 32643087.
• Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability. Morel G, Duhamel C, Boussion S, Frénois F, Lesca G, Chatron N, Labalme A, Sanlaville D, Edery P, Thevenon J, Faivre L, Fassier A, Prodhomme O, Escande F, Manouvrier S, Petit F, Geneviève D, Rossi M.  Hum Mutat. 2020 Sep;41(9):1499-1506. doi: 10.1002/humu.24070. Epub 2020 Jul 15. PMID: 32598510.
• Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM.  Eur J Med Genet. 2020 Oct;63(10):104004. doi: 10.1016/j.ejmg.2020.104004. Epub 2020 Jul 17. PMID: 32688057.
• De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N.  Genet Med. 2020 Jul 22. doi: 10.1038/s41436-020-0898-y. Epub ahead of print. PMID: 32694869.
• Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A.  J Med Genet. 2020 Jul 30:jmedgenet-2020-106867. doi: 10.1136/jmedgenet-2020-106867. Epub ahead of print. PMID: 32732226.
• Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation. Briand C, Galmiche-Rolland L, Vabres P, Couloigner V, Audebert S, Misery L, Abasq-Thomas C. Pediatr Dermatol. 2020 Aug 8. doi: 10.1111/pde.14302. Epub ahead of print. PMID: 32770747.
• Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation. Hadouiri N, Darmency V, Guibaud L, Arzimanoglou A, Sorlin A, Carmignac V, Rivière JB, Huet F, Luu M, Bardou M, Thauvin-Robinet C, Vabres P, Faivre L.  Eur J Med Genet. 2020 Nov;63(11):104036. doi: 10.1016/j.ejmg.2020.104036. Epub 2020 Aug 14. PMID: 32805448.
• Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex. Tessarech M, Malinge MC, Carmignac V, Vabres P, Petit F. Am J Med Genet A. 2020 Aug 17. doi: 10.1002/ajmg.a.61811. Epub ahead of print. PMID: 32804443.
• Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors. Lhussiez V, Dubus E, Cesar Q, Acar N, Nandrot EF, Simonutti M, Audo I, Lizé E, Nguyen S, Geissler A, Bouchot A, Ansar M, Picaud S, Thauvin-Robinet C, Olivier-Faivre L, Duplomb L, Da Costa R. Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):18. doi: 10.1167/iovs.61.11.18. PMID: 32915983.
• Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? Tessier A, Boutaud L, Bruel AL, Thauvin-Robinet C, Roth P, Malan V, Beaujard MP, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessières B, Attié-Bitach T.  Clin Genet. 2020 Sep 14. doi: 10.1111/cge.13840. Epub ahead of print. PMID: 32926417.
• Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome. Roux-Levy PH, Bournez M, Masurel A, Jean N, Chancenotte S, Bordes M, Debomy F, Minot D, Schmitt E, Vinault S, Gautier E, Lacombe D, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Cornaton J, Gallard J, Héron D, Rastel C, Huet F, Thauvin-Robinet C, Verloes A, Binquet C, Tauber M, Lejeune C, Faivre L.  Eur J Med Genet. 2020 Sep 27:104064. doi: 10.1016/j.ejmg.2020.104064. Epub ahead of print. PMID: 32998064.
• JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM.  Genet Med. 2020 Oct 20. doi: 10.1038/s41436-020-00992-z.
• The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. Genet Med. 2020 Oct 27. doi: 10.1038/s41436-020-00981-2. Epub ahead of print. PMID: 33106617.
• New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. Trajkova S, Di Gregorio E, Ferrero GB, Carli D, Pavinato L, Delplancq G, Kuentz P, Brusco A.  Brain Sci. 2020 Oct 28;10(11):788. doi: 10.3390/brainsci10110788. PMID: 33126574.
• NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE.  Genet Med. 2020 Nov 4. doi: 10.1038/s41436-020-00988-9. Epub ahead of print. PMID: 33144681.
• New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. Genet Med. 2020 Nov 5. doi: 10.1038/s41436-020-01011-x. Epub ahead of print. PMID: 33149277.
• Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy. Liu H, Giguet-Valard AG, Simonet T, Szenker-Ravi E, Lambert L, Vincent-Delorme C, Scheidecker S, Fradin M, Morice-Picard F, Naudion S, Ciorna-Monferrato V, Colin E, Fellmann F, Blesson S, Jouk PS, Francannet C, Petit F, Moutton S, Lehalle D, Chassaing N, El Zein L, Bazin A, Bénéteau C, Attié-Bitach T, Hanu SM, Brechard MP, Chiesa J, Pasquier L, Rooryck-Thambo C, Van Maldergem L, Cabrol C, El Chehadeh S, Vasiljevic A, Isidor B, Abel C, Thevenon J, Di Filippo S, Vigouroux-Castera A, Attia J, Quelin C, Odent S, Piard J, Giuliano F, Putoux A, Khau Van Kien P, Yardin C, Touraine R, Reversade B, Bouvagnet P.  Hum Mutat. 2020 Dec;41(12):2167-2178. doi: 10.1002/humu.24132. Epub 2020 Nov 10. PMID: 33131162.
• Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB.  Am J Hum Genet. 2020 Nov 16:S0002-9297(20)30398-0. doi: 10.1016/j.ajhg.2020.11.001. Epub ahead of print. PMID: 33232677.
• Periodontal disorders in a cohort of patients with Cohen syndrome. Lafon A, Faivre L, Seux D, Gautier E, Duplomb L, Grogogeat B, Marcelet A, Laforest L.  Spec Care Dentist. 2020 Nov 17. doi: 10.1111/scd.12544. Epub ahead of print. PMID: 33202072.
• Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Del Gaudio D, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C. Brain. 2020 Nov 27:awaa346. doi: 10.1093/brain/awaa346. Epub ahead of print. PMID: 33242881.

• Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3. Villegas F, Lehalle D, Mayer D, Rittirsch M, Stadler MB, Zinner M, Olivieri D, Vabres P, Duplomb-Jego L, De Bont ESJM, Duffourd Y, Duijkers F, Avila M, Geneviève D, Houcinat N, Jouan T, Kuentz P, Lichtenbelt KD, Thauvin-Robinet C, St-Onge J, Thevenon J, van Gassen KLI, van Haelst M, van Koningsbruggen S, Hess D, Smallwood SA, Rivière J-B, Faivre L, Betschinger J.  Cell Stem Cell. 7 févr 2019;24(2):257‑270.e8.
• Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière J-B.  Nat Genet. oct 2019;51(10):1438‑41.
• Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Collins SC, Mikhaleva A, Vrcelj K, Vancollie VE, Wagner C, Demeure N, Whitley H, Kannan M, Balz R, Anthony LFE, Edwards A, Moine H, White JK, Adams DJ, Reymond A, Lelliott CJ, Webber C, Yalcin B.  Nat Commun. 01 2019;10(1):3465.
• 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases. Bruel A-L, Vitobello A, Mau-Them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-Marçais N, Orphanomix Physicians’ Group, Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-Boidron A-L, Callier P, Philippe C, Faivre L, Thauvin-Robinet C. Genet Med. 19 déc 2018;
• Anatomical and functional abnormalities on MRI in kabuki syndrome. Boisgontier J, Tacchella JM, Lemaître H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, Lyonnet S, Le Quang Sang K-H, Baujat G, Rio M, Boute O, Faivre L, Schaefer E, Sanlaville D, Zilbovicius M, Grévent D, Geneviève D, Boddaert N. Neuroimage Clin. 2019;21:101610.
• Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron A-L, Caberg J-H, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S. Genet Med. 2019;21(4):816‑25.
• De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A.  Genet Med. 2019;21(4):1008‑14.
• Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang Y-H, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM.  Am J Hum Genet. 3 janv 2019;104(1):164‑78.
• Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis. Bourgon N, Lefebvre M, Kuentz P, Thevenon J, Jouan T, Duffourd Y, Philippe C, Tran Mau-Them F, Durand C, Harizay F, Laurent N, Rousseau T, Faivre L, Thauvin-Robinet C. Prenat Diagn. août 2019;39(9):806‑10.
• Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn A-C, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant J-L, Kuentz P, Lenglet M, Nassogne M-C, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Genet Med. 6 févr 2019;
• ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot A-M, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.  Am J Hum Genet. 7 févr 2019;104(2):319‑30.
• Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, Küsel J, Zimmer AD, Alter S, Happle R, Fischer J.  Br J Dermatol. mars 2019;180(3):657‑61.
• Diagnostic criteria in Pai syndrome: results of a case series and a literature review. Morice A, Galliani E, Amiel J, Rachwalski M, Neiva C, Thauvin-Robinet C, Vazquez M-P, Picard A, Kadlub N.  Int J Oral Maxillofac Surg. mars 2019;48(3):283‑90.
• De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.  Am J Hum Genet. 7 mars 2019;104(3):542‑52.
• Alopecia, deformed ear and mental retardation associated with terminal 21q deletion. Lafabregue E, Chaby G, Vabres P, Carmi E. Ann Dermatol Venereol. 25 mars 2019;
• Mosaic abnormalities of the skin – review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin). Kinsler VA, Boccara O, Fraitag S, Torrelo A, Vabres P, Diociauti A.  Br J Dermatol. 28 mars 2019
• Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin J-C, Patrier S.  Pediatr Dev Pathol. avr 2019;22(2):146‑51.
• Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human. Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Deciphering Developmental Disorders Study, SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.  Am J Hum Genet. 2019. PMID: 30929742
• Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Lecoquierre F, Duffourd Y, Vitobello A, Bruel A-L, Urteaga B, Coubes C, Garret P, Nambot S, Chevarin M, Jouan T, Moutton S, Orphanomix Physician’s Group, Tran-Mau-Them F, Philippe C, Sorlin A, Faivre L, Thauvin-Robinet C.  Genet Med. 2019;21(11):2504‑11.
• Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study). Chassagne A, Pélissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marçais N, Thevenon J, Lesca G, Putoux A, Cordier M-P, Dupuis-Girod S, Till M, Duffourd Y, Rivière J-B, Joly L, Juif C, Putois O, Ancet P, Lapointe A-S, Morin P, Edery P, Rossi M, Sanlaville D, Béjean S, Peyron C, Faivre L. Eur J Hum Genet. mai 2019;27(5):701‑10.
• Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia. Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo M-A, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie J-N, Delva L, Faivre L, Thauvin-Robinet C, Solary E.  J Mol Med. mai 2019;97(5):633‑45.
• Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum. Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C, PROMISE Working Group, Vabres P, Semple RK, Biesecker LG.  Genet Med. mai 2019;21(5):1189‑98.
• Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature. Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, Gautier E, Thevenon J, Cretin E, Bruel AL, Goussot V, Ghiringhelli F, Boidot R, Tran Mau-Them F, Philippe C, Vitobello A, Demougeot L, Vernin C, Lapointe AS, Bardou M, Luu M, Binquet C, Lejeune C, Joly L, Juif C, Baurand A, Sawka C, Bertolone G, Duffourd Y, Sanlaville D, Pujol P, Geneviève D, Houdayer F, Thauvin-Robinet C, Faivre L.  Eur J Med Genet. juin 2019;62(6):103529.
• De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, de Saint-Martin A, Hurst ACE, Hu Y, Bodamer O, Thevenon J, Hung CY, Isidor B, Gerard B, Rega A, Nambot S, Lehalle D, Duffourd Y, Thauvin-Robinet C, Faivre L, Bézieau S, Dure LS, Helbling DC, Bick D, Xu C, Chen Q, Mancini GMS, Vitobello A, Wang QK.  Hum Mol Genet. 01 2019;28(17):2937-51.
• HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel A-L, Houtkooper RH, MacInnes AW.  Am J Hum Genet. 6 juin 2019;104(6):1040‑59.
• Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking. Da Costa R, Bordessoules M, Guilleman M, Carmignac V, Lhussiez V, Courot H, Bataille A, Chlémaire A, Bruno C, Fauque P, Thauvin C, Faivre L, Duplomb L.  Cell Mol Life Sci. 19 juin 2019
• Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.  Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau J-C, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot A-M, Guichet A, Isidor B, Jacquemont M-L, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Genet Med. 31 juill 2019
• Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Hum Mol Genet. 01 2019;28(17):2900‑19.
• Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Bonnet Dupeyron M-N, Faivre L, Chung WK. Cold Spring Harb Mol Case Stud. Août 2019;5(4).
• Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders. Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier P-A, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier M-P, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont J-M, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot A-M, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï M-F, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi J-P, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet A-C, Sanlaville D.  J Med Genet. août 2019;56(8):526‑35.
• Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel A-L, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron A-L, Vitobello A, Sorlin A, Tran Mau-Them F, Philippe C, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze J-F, Verstuyft C, Duffourd Y, Faivre L. Eur J Hum Genet. août 2019;27(8):1197‑214.
• Autism and developmental disability caused by KCNQ3 gain-of-function variants. Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard A-M, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Ann Neurol. août 2019;86(2):181‑92.
• De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. Am J Hum Genet. 1 août 2019;105(2):403‑12.
• A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. Lauritano A, Moutton S, Longobardi E, Tran Mau-Them F, Laudati G, Nappi P, Soldovieri MV, Ambrosino P, Cataldi M, Jouan T, Lehalle D, Maurey H, Philippe C, Miceli F, Vitobello A, Taglialatela M.  Epilepsia Open. sept 2019;4(3):464‑75.
• Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. Lehalle D, Colombo R, O’Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F, Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S, Faivre L.  Am J Med Genet A. sept 2019;179(9):1756‑63.
• Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere J-B, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD, Deciphering Developmental Disorders Study, Wang K, Timmers HTM, Lyon GJ.  Hum Mutat. 23 oct 2019;
• Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives. Houdayer F, Putois O, Babonneau ML, Chaumet H, Joly L, Juif C, Michon CC, Staraci S, Cretin E, Delanoue S, Charron P, Chassagne A, Edery P, Gautier E, Lapointe AS, Thauvin-Robinet C, Sanlaville D, Gargiulo M, Faivre L.  Eur J Med Genet. oct 2019;62(10):103711.
• Bruel A-L, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N, Orphanomix Physician’s Group, Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Tran Mau-Them F, Duffourd Y, Faivre L, Thauvin-Robinet C. Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. Eur J Hum Genet. oct 2019;27(10):1519‑31.
• HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk H-M, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K.  Am J Med Genet A. oct 2019;179(10):2049‑55.
• The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues M-C, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel M-A, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C, DDD Study, Kini U, Philippe C.  Genet Med. 2019;21(6):1308‑18.
• De novo variants in CNOT3 cause a variable neurodevelopmental disorder. Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters E a. J, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A.  Eur J Hum Genet. nov 2019;27(11):1677‑82.
• Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, Bourrat E, Boute O, Bukvic N, Bursztejn A-C, Chiaverini C, Delobel B, Fournet M, Martel J, Goldenberg A, Hadj-Rabia S, Mahé A, Maruani A, Mazereeuw J, Mignot C, Morice-Picard F, Moutard M-L, Petit F, Pasteur J, Phan A, Whalen S, Willems M, Philippe C, Vabres P.  J Invest Dermatol. 11 nov 2019
• Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations. Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard J-B, Ragon C, Perez M-J, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J.  Mol Genet Genomic Med. nov 2019;7(11):e00895.
• Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group. Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière J-B, Deleuze J-F, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D. Eur J Hum Genet. nov 2019;27(11):1692‑700.
• Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. Garret P, Bris C, Procaccio V, Amati-Bonneau P, Vabres P, Houcinat N, Tisserant E, Feillet F, Bruel A-L, Quéré V, Philippe C, Sorlin A, Tran Mau-Them F, Vitobello A, Costa J-M, Boughalem A, Trost D, Faivre L, Thauvin-Robinet C, Duffourd Y.  Hum Mutat. déc 2019;40(12):2430‑43.
• Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Eur J Med Genet. déc 2019;62(12):103588.

• Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies. Magne J, Jenvrin A, Chauchet A, Casasnovas O, Donzel A, Jego L, Aral B, Guy J, Nadal N, Vernerey D, Callier P, Garnache-Ottou F, Ferrand C.  Exp Hematol Oncol. 2018;7:5.
• HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray F-G, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne M-C, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe C von der, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Eur J Hum Genet. 2018;26(1):64 74.
• In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel A-L, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier M-P, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T. Birth Defects Res. 01 2018;110(4):382 9.
• Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. Alessandri J-L, Gordon CT, Jacquemont M-L, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J. Eur J Hum Genet. 2018;26(3):340 9.
• Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel A-L, Mosca-Boidron A-L, Masurel-Paulet A, Lehalle D, Jean-Marçais N, Lefebvre M, Vabres P, El Chehadeh-Djebbar S, Philippe C, Tran Mau-Them F, St-Onge J, Jouan T, Chevarin M, Poé C, Carmignac V, Vitobello A, Callier P, Rivière J-B, Faivre L, Thauvin-Robinet C, Orphanomix Physicians’ Group. Genet Med. 2018;20(6):645 54.
• Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5. Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin M-L, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F. Brain. 1 janv 2018;141(1):72 84.
• [Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases]. Demougeot L, Houdayer F, Pélissier A, Mohrez F, Thevenon J, Duffourd Y, Nambot S, Gautier E, Binquet C, Rossi M, Sanlaville D, Béjean S, Peyron C, Thauvin-Robinet C, Faivre L.  Arch Pediatr. févr 2018;25(2):77 83.
•  Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE. Samimi M, Durieux-Verde M, Caille A, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Leducq S, Lorette G, Morel B, Maruani A, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.  Br J Dermatol. févr 2018;178(2):520 6.
•  Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. Maruani A, Durieux-Verde M, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Bénéton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Berthelot A, Lorette G, Leducq S, Samimi M, Andres C, Caille A, Vourc’h P, Groupe de Recherche de la Société Française de Dermatologie.  Acta Derm Venereol. 7 févr 2018;98(2):251 5.
• Autosomal recessive primary microcephaly due to ASPM mutations: An update. Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francann et C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S. Hum Mutat. mars 2018;39(3):319 32.
•  Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel A-L, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière J-B, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot J-P, Katsanis N, Faivre L, Fabre A.   Am J Hum Genet. 1 mars 2018;102(3):364 74.
•  Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM-T, Nambot S, Faivre L, Bruel A-L, Rossi M, Isidor B, Küry S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY.  Clin Genet. avr 2018;93(4):880 90.
• MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.   Neurogenetics. mai 2018;19(2):93 103.
• A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg E-J, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, DDD Study, Donadieu J, Narayanan V, Ramsey KM, C4RCD Research Group, Nava C, Rivière J-B, Vitobello A, Tran Mau-Them F, Philippe C, Bruel A-L, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.   Am J Hum Genet. 3 mai 2018;102(5):995 1007.
• How to make a tongue: Cellular and molecular regulation of muscle and connective tissue formation during mammalian tongue development. Cobourne MT, Iseki S, Birjandi AA, Adel Al-Lami H, Thauvin-Robinet C, Xavier GM, Liu KJ. Semin Cell Dev Biol. 18 mai 2018;
• INTU-related oral-facial-digital syndrome type VI: A confirmatory report.  Bruel A-L, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet A-C, Faivre L, Thauvin-Robinet C, Verloes A. Clin Genet. juin 2018;93(6):1205 9.
• Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith S-O, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J. J Med Genet. juin 2018;55(6):422 9.
• Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset J-M, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont J-P, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk P-S, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan J-M, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri J-L, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron A-L, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet A-C, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. J Med Genet. juin 2018;55(6):359 71.
• Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.  Moutton S, Bruel A-L, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot A-M, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L. Clin Genet. juin 2018;93(6):1172 8.
• Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications. Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron A-L, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N. Am J Med Genet B Neuropsychiatr Genet. juin 2018;177(4):397 405.
• Identification of PITX3 mutations in individuals with various ocular developmental defects.  Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N. Ophthalmic Genet. juin 2018;39(3):314 20.
• Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment.  Castela E, Tulic MK, Rozières A, Bourrat E, Nicolas J-F, Kanitakis J, Vabres P, Bessis D, Mazereeuw J, Morice-Picard F, Baty D, Berard F, Lacour J-P, Passeron T, Chiaverini C. Br J Dermatol. 22 juin 2018;
• Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design. Maruani A, Boccara O, Bessis D, Guibaud L, Vabres P, Mazereeuw-Hautier J, Barbarot S, Chiaverini C, Blaise S, Droitcourt C, Mallet S, Martin L, Lorette G, Woillard J-B, Jonville-Bera A-P, Rollin J, Gruel Y, Herbreteau D, Goga D, le Touze A, Leducq S, Gissot V, Morel B, Tavernier E, Giraudeau B, Groupe de Recherche de la Societé Française de Dermatologie Pédiatrique.  Trials. 27 juin 2018;19(1):340.
• Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. Bruel A-L, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière J-B, Faivre L, Thauvin-Robinet C. Clin Genet. juill 2018;94(1):182 4.
• Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze J-F, Mandel J-L, Gerard B, Giurgea I. Eur J Hum Genet. juill 2018;26(7):996 1006.
• Time-based prospective memory in children and adolescents with 22q11.2 deletion syndrome. Souchay C, Dubourg L, Ballhausen N, Schneider M, Cerf C, Schnitzspahn K, Faivre L, Kliegel M, Eliez S. Clin Neuropsychol. juill 2018;32(5):981 92.
• De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V.  Brain. 1 juill 2018;141(7):1998 2013.
• Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg M-N, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong T-A, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E.  J Clin Endocrinol Metab. 1 juill 2018;103(7):2436 46.
• Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez M-A, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard M-L, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L.  Genet Med. 12 juill 2018
• Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, Küsel J, Zimmer AD, Alter S, Happle R, Fischer J.  Br J Dermatol. 19 juill 2018;
• De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel A-L, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian Genomics, DDD Study, Reis A, Sticht H, Zweier C.  Am J Hum Genet. 2 août 2018;103(2):305 16.
• The landscape of epilepsy-related GATOR1 variants. Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont M-L, Nava C, Leguern E, Julia S, Gambardella A, d’Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre A-S, Jennesson M, Sattar S, Marchal C, Nordli DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans A-S, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.  Genet Med. 10 août 2018
• Severe gynaecological involvement in Proteus Syndrome. Severino-Freire M, Maza A, Kuentz P, Duffourd Y, Faivre L, Brazet E, Chassaing N, Mery-Lemarche E, Vabres P, Mazereeuw-Hautier J.  Eur J Med Genet. 10 août 2018
• Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys). Podliesna S, Delanne J, Miller L, Tester DJ, Uzunyan M, Yano S, Klerk M, Cannon BC, Khongphatthanayothin A, Laurent G, Bertaux G, Falcon-Eicher S, Wu S, Yen H-Y, Gao H, Wilde AAM, Faivre L, Ackerman MJ, Lodder EM, Bezzina CR.  Heart Rhythm. 16 août 2018
• Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature. Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, Gautier E, Thevenon J, Cretin E, Bruel AL, Goussot V, Ghiringhelli F, Boidot R, Tran Mau-Them F, Philippe C, Vitobello A, Demougeot L, Vernin C, Lapointe AS, Bardou M, Luu M, Binquet C, Lejeune C, Joly L, Juif C, Baurand A, Sawka C, Bertolone G, Duffourd Y, Sanlaville D, Pujol P, Geneviève D, Houdayer F, Thauvin-Robinet C, Faivre L.  Eur J Med Genet. 28 août 2018
• Correction to: The landscape of epilepsy-related GATOR1 variants. Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin A de S, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D de, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont M-L, Nava C, Leguern E, Julia S, Gambardella A, d’Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre A-S, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans A-S, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J de, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.  Genet Med. 29 août 2018
• De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A. Genet Med. 31 août 2018
• Diagnostic criteria in Pai syndrome: results of a case series and a literature review. Morice A, Galliani E, Amiel J, Rachwalski M, Neiva C, Thauvin-Robinet C, Vazquez M-P, Picard A, Kadlub N.  Int J Oral Maxillofac Surg. 5 sept 2018
• Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron A-L, Caberg J-H, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.  Genet Med. 7 sept 2018
• Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus. Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin J-C, Patrier S.  Pediatr Dev Pathol. 7 sept 2018;1093526618799293.
• Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Assoum M, Lines MA, Elpeleg O, Darmency V, Whiting S, Edvardson S, Devinsky O, Heinzen E, Hernan RR, Antignac C, Deleuze J-F, Des Portes V, Bertholet-Thomas A, Belot A, Geller E, Lemesle M, Duffourd Y, Thauvin-Robinet C, Thevenon J, Chung W, Lowenstein DH, Faivre L.  Am J Med Genet A. 23 sept 2018
• Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. Lefebvre M, Beaufrere A-M, Francannet C, Laurichesse H, Poe C, Jouan T, Troude B, Dechelotte P, Vabres P, Briard M, Mosca-Boidron A-L, Duffourd Y, Faivre L, Thevenon J, Thauvin-Robinet C.  Am J Med Genet A. 23 sept 2018
• Correction: The landscape of epilepsy-related GATOR1 variants. Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont M-L, Nava C, Leguern E, Julia S, Gambardella A, d’Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre A-S, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans A-S, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Genet Med. 27 sept 2018
• De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Basilicata MF, Bruel A-L, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V, DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A.  Nat Genet. oct 2018;50(10):1442 51.
• Tongue psoriasis: Clinical aspects and analysis of epidemiological associations in 313 children, with a systematic literature review. Pourchot D, Chiaverini C, Bourrat E, Barbarot S, Vabres P, Hubiche T, Droicourt C, Piram M, Kupfer-Bessaguet I, Ferneiny M, Puzenat E, Balguérie X, Beauchet A, Bursztejn A-C, Mahé E, Groupe de recherche de la Société française de dermatologie pédiatrique. Ann Dermatol Venereol. oct 2018;145(10):578 86.
• Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum. Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C, PROMISE Working Group, Vabres P, Semple RK, Biesecker LG. . Genet Med. 1 oct 2018
• 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations. Allach El Khattabi L, Heide S, Caberg J-H, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron A-L, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E.  J Med Genet. 4 oct 2018
• De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.  Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg E-J, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, DDD Study, Donadieu J, Narayanan V, Ramsey KM, C4RCD Research Group, Nava C, Rivière J-B, Vitobello A, Mau-Them FT, Philippe C, Bruel A-L, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent Am J Hum Genet. 4 oct 2018;103(4):631.
• Large International Validation of ABSIS and PDAI Pemphigus Severity Scores. Hebert V, Boulard C, Houivet E, Duvert Lehembre S, Borradori L, Della Torre R, Feliciani C, Fania L, Zambruno G, Camaioni DB, Didona B, Marinovic B, Schmidt E, Schumacher N, Hünefeld C, Schanz S, Kern JS, Hofmann S, Bouyeure AC, Picard-Dahan C, Prost-Squarcioni C, Caux F, Alexandre M, Ingen-Housz-Oro S, Bagot M, Tancrede-Bohin E, Bouaziz JD, Franck N, Vabres P, Labeille B, Richard MA, Delaporte E, Dupuy A, D’Incan M, Quereux G, Skowro F, Paul C, Livideanu CB, Beylot-Barry M, Doutre MS, Avenel-Audran M, Bedane C, Bernard P, Machet L, Maillard H, Jullien D, Debarbieux S, Sassolas B, Misery L, Abasq C, Dereure O, Lagoutte P, Ferranti V, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P, French Study Group on Autoimmune Bullous Skin Diseases, Autoimmune Bullous Skin Disease Task Force of the European Academy of Dermatology and Venereology. J Invest Dermatol. 6 oct 2018
• The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues M-C, Nava C, Arsene OT, Shears D, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel M-A, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C, DDD Study, Kini U, Philippe C.  Genet Med. 25 oct 2018
• TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. Lemattre C, Thevenon J, Duffourd Y, Nambot S, Haquet E, Vuadelle B, Genevieve D, Sarda P, Bruel AL, Kuentz P, Wells CF, Faivre L, Willems M.  Am J Med Genet A. 26 oct 2018
• HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Brain. 1 nov 2018;141(11):3160 78.
• NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière J-B, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ.  Am J Hum Genet. 1 nov 2018;103(5):752 68.
• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faive L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Nat Commun. 5 nov 2018;9(1):4619.

• A framework to identify contributing genes in patients with Phelan-McDermid syndrome. Tabet A-C, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron A-L, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume M-L, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. . NPJ Genom Med. 2017;2:32.
• Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Abramowicz I, Carpenter G, Alfieri M, Colnaghi R, Outwin E, Parent P, Thauvin-Robinet C, Iaconis D, Franco B, O’Driscoll M.  Hum Mol Genet. 01 2017;26(1):19‑32.
• Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière J-B, Faivre L, Innes AM, Lebel RR, Boycott KM, Care4Rare Canada Consortium.  Clin Genet. 2017;91(1):92‑9.
• Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC, NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MCV, El-Shanti H.  Ann Clin Transl Neurol. 2017;4(1):26‑35.
• Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C.  J Med Genet. 2017;54(2):100‑3.
• Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. Bruel A-L, Masurel-Paulet A, Rivière J-B, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze J-F, Thauvin-Robinet C, Faivre L, Thevenon J.  Clin Genet. 2017;91(2):333‑8.
• Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière J-B, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke H-J, Wieczorek D.  Eur J Hum Genet. 2017;25(2):183‑91.
• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon J-F, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EMK, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C, UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin J-L, Mitchison HM.  Nat Commun. 08 2017;8:14279.
• Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Moustaïne A, Ruaud L, Roth V, Jonveaux P, Philippe C.  Clin Genet. 2017;91(3):431‑40.
• Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard M-L, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue M-A, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.  Hum Genet. 2017;136(4):463‑79.
• Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn A-S, Portes V des, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron A-L, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel J-L, Faivre L, Piton A.  Eur J Hum Genet. 2017;25(4):423‑31.
• PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet. Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DDD, Smithson SF. 2017;25(5):552‑9.
• Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features. Bidart M, El Atifi M, Miladi S, Rendu J, Satre V, Ray PF, Bosson C, Devillard F, Lehalle D, Malan V, Amiel J, Mencarelli MA, Baldassarri M, Renieri A, Clayton-Smith J, Vieville G, Thevenon J, Amblard F, Berger F, Jouk P-S, Coutton C. Genet Med. 2017;19(6):701‑10.
• Research Group of the French Society of Pediatric Dermatology. Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. Brun J, Chiaverini C, Devos C, Leclerc-Mercier S, Mazereeuw J, Bourrat E, Maruani A, Mallet S, Abasq C, Phan A, Vabres P, Martin L, Bodemer C, Lagrange S, Lacour J-P,  Orphanet J Rare Dis. 28 2017;12(1):119.
• Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis. Sorlin A, Maruani A, Aubriot-Lorton M-H, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Rivière J-B, Vabres P.  J Invest Dermatol. 2017;137(7):1575‑8.
• Identification of novel candidate disease genes from de novo exonic copy number variants. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao H-T, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang S-HL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Genome Med. 21 2017;9(1):83.
• Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.  Kuentz P, St-Onge J, Duffourd Y, Courcet J-B, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn A-C, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont M-L, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière J-B. Genet Med. 2017;19(9):989‑97.
• Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. Renault A-L, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d’Enghien CD, Laugé A, Dondon M-G, Labbé M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker J-P, Dahan K, Bay J-O, Longy M, Buecher B, Janin N, Zattara H, Berthet P, Combès A, Coupier I, CoF-AT study collaborators, Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F.  Carcinogenesis. 01 2017;38(10):994‑1003.
• Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome. Polubothu S, Scott RH, Vabres P, Kinsler VA. Br J Dermatol. 2017;177(5):e185‑6.
• A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease. Duplomb L, Droin N, Bouchot O, Thauvin-Robinet C, Bruel A-L, Thevenon J, Callier P, Meurice G, Pata-Merci N, Loffroy R, Vandroux D, Costa RDA, Carmignac V, Solary E, Faivre L.  Hum Mol Genet. 01 2017;26(23):4680‑8.
• Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk P-S, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue M-A, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot A-M, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B. Am J Med Genet C Semin Med Genet. 2017;175(4):417‑30.
• Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Gauthier-Vasserot A, Thauvin-Robinet C, Bruel A-L, Duffourd Y, St-Onge J, Jouan T, Rivière J-B, Heron D, Donadieu J, Bellanné-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J. Am J Med Genet A. janv 2017;173(1):62‑71.
• Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. Kuentz P, Fraitag S, Gonzales M, Dhombres F, St-Onge J, Duffourd Y, Joyé N, Jouannic J-M, Picard A, Marle N, Thevenon J, Thauvin-Robinet C, Faivre L, Rivière J-B, Vabres P.  Br J Dermatol. janv 2017;176(1):204‑8.
• Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing. Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher J-C, Gourraud J-B, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L.  Am J Med Genet A. févr 2017;173(2):531‑6.
• The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature. Bessis D, Bigorre M, Malissen N, Captier G, Chiaverini C, Abasq C, Barbarot S, Boccara O, Bourrat E, El Fertit H, Eschard C, Hubiche T, Lacour J-P, Leboucq N, Mahé E, Mallet S, Marque M, Martin L, Mazereeuw-Hautier J, Milla N, Phan A, Plantin P, Picot M-C, Puzenat E, Rigau V, Vabres P, Fraitag S, Boralevi F, Groupe de Recherche Clinique en Dermatologie Pédiatrique.  J Am Acad Dermatol. mars 2017;76(3):478‑87.
• Xq28 duplication including MECP2 in six unreported affected females. El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron A-L, Mugneret F, Le Meur N, Goldenberg A, Guerrot A-M, Chambon P, Satre V, Coutton C, Jouk P-S, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard M-L, Addor M-C, Lebon S, Martinet D, Alessandri J-L, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet A-C, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. 
• Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Lu H-C, Tan Q, Rousseaux MWC, Wang W, Kim J-Y, Richman R, Wan Y-W, Yeh S-Y, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron A-L, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Nat Genet. avr 2017;49(4):527‑36.
• High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations. Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher J-C, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P. Europace. 1 avr 2017;19(4):651‑9.
• Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Bruel A-L, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze J-F, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière J-B, Faivre L, Thauvin-Robinet C.  J Med Genet. juin 2017;54(6):371‑80.
• Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability. Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi J-P, Moutard M-L, Héron D. J Pediatr. juin 2017;185:160‑166.e1.
• Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. Lefebvre M, Duffourd Y, Jouan T, Poe C, Jean-Marçais N, Verloes A, St-Onge J, Riviere J-B, Petit F, Pierquin G, Demeer B, Callier P, Thauvin-Robinet C, Faivre L, Thevenon J. Clin Genet. juin 2017;91(6):908‑12.
• Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Ranza E, Huber C, Levin N, Baujat G, Bole-Feysot C, Nitschke P, Masson C, Alanay Y, Al-Gazali L, Bitoun P, Boute O, Campeau P, Coubes C, McEntagart M, Elcioglu N, Faivre L, Gezdirici A, Johnson D, Mihci E, Nur BG, Perrin L, Quelin C, Terhal P, Tuysuz B, Cormier-Daire V.  Clin Genet. juin 2017;91(6):868‑80.
• STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Lehalle D, Mosca-Boidron A-L, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park S-M, Rauch A, Revencu N, Rivière J-B, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. J Med Genet. juill 2017;54(7):479‑88.
• Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L. Clin Genet. août 2017;92(2):188‑98.
• Bigot A, Brunault P, Lavigne C, Feillet F, Odent S, Kaphan E, Thauvin C, Leguy V, Broué P, Tchan MC, Maillot F. Psychiatric adult-onset of urea cycle disorders: A case-series. Mol Genet Metab Rep. sept 2017;12:103‑9.
• Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang K-HLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D. Clin Genet. sept 2017;92(3):298‑305.
• Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour J-P, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.  Circulation. 12 sept 2017;136(11):1037‑48.
• Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas. Bal E, Park H-S, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril M-F, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A.  Nat Med. oct 2017;23(10):1226‑33.
• Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel A-L, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron A-L, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière J-B, Thevenon J, Faivre L. Eur J Med Genet. nov 2017;60(11):595‑604.
• Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron A-L, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard M-P, Rialland F, Grain A, Béné M-C, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. J Clin Invest. 1 nov 2017;127(11):4090‑103.
• De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC.  Am J Hum Genet. 2 nov 2017;101(5):844‑55.
• Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti. Bal E, Laplantine E, Hamel Y, Dubosclard V, Boisson B, Pescatore A, Picard C, Hadj-Rabia S, Royer G, Steffann J, Bonnefont J-P, Ursini VM, Vabres P, Munnich A, Casanova J-L, Bodemer C, Weil R, Agou F, Smahi A.  J Allergy Clin Immunol. déc 2017;140(6):1671‑1682.e2.
• Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Bruel A-L, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze J-F, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière J-B, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J.  J Med Genet. déc 2017;54(12):830‑5.
• Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. Lehalle D, Altunoglu U, Bruel A-L, Arnaud E, Blanchet P, Choi J-W, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L.  Am J Med Genet A. déc 2017;173(12):3136‑42.
• Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Schiff M, Roda C, Monin M-L, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier M-C, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. J Med Genet. déc 2017;54(12):843‑51.

• Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features. Bidart M, Atifi M El, Miladi S, Rendu J, Satre V, Ray PF, Bosson C, Devillard F, Lehalle D, Malan V, Amiel J, Mencarelli MA, Baldassarri M, Renieri A, Clayton-Smith J, Vieville G, Thevenon J, Amblard F, Berger F, Jouk P-S, Coutton C.  Genet Med. 1 déc 2016
• Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.  Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière J-B, Faivre L, Thevenon J. Am J Hum Genet. 1 déc 2016;99(6):1368‑76.
• Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel A-L, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière J-B, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C.  Clin Genet. déc 2016;90(6):509‑17.
• Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez M-J, Sabourin JC, Verloes A, Patrier S, Guerrot A-M. Prenat Diagn. déc 2016;36(13):1270‑5.
• WES/WGS Reporting of Mutations from Cardiovascular « Actionable » Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. Pinard A, Salgado D, Desvignes J-P, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G. Hum Mutat. déc 2016;37(12):1308‑17.
• Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.  Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière J-B, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner A-S, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel J-L, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, Chehadeh S El. Prenat Diagn. déc 2016;36(13):1276‑9.
• Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.  Lefebvre M, Duffourd Y, Jouan T, Poe C, Jean-Marçais N, Verloes A, St-Onge J, Riviere J-B, Petit F, Pierquin G, Demeer B, Callier P, Thauvin-Robinet C, Faivre L, Thevenon J. Clin Genet. 8 nov 2016
• Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot A-M, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.  Am J Med Genet A. nov 2016;170(11):2847‑59.
• Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. Bou-Assi E, Bonniaud B, Grimaldi M, Faivre L, Vabres P.  Pediatr Dermatol. nov 2016;33(6):e351‑2.
• Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Abramowicz I, Carpenter G, Alfieri M, Colnaghi R, Outwin E, Parent P, Thauvin-Robinet C, Iaconis D, Franco B, O’Driscoll M. Hum Mol Genet. 25 oct 2016
• Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Ranza E, Huber C, Levin N, Baujat G, Bole-Feysot C, Nitschke P, Masson C, Alanay Y, Al-Gazali L, Bitoun P, Boute O, Campeau P, Coubes C, McEntagart M, Elcioglu N, Faivre L, Gezdirici A, Johnson D, Mihci E, Nur BG, Perrin L, Quelin C, Terhal P, Tuysuz B, Cormier-Daire V. Clin Genet. 13 oct 2016
• Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Bauché S, O’Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere A-M, Pebrel-Richard C, Thevenon J, Chehadeh-Djebbar S El, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues M-C, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze J-F, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S.  Am J Hum Genet. 1 sept 2016;99(3):753‑61.
• Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases. Gandon C, Bonniaud B, Collet E, Dalac S, Jeudy G, Vabres P. A  Pediatr Dermatol. sept 2016;33(5):e337‑41.
• BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JEV, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee S-C, Faivre L, Kleefstra T, Liu P, Hurles ME, DDD Study, Fisher SE, Logan DW. Am J Hum Genet. 4 août 2016;99(2):253‑74.
• Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GMS, Nava C, Wasserstein M, Bruel A-L, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière J-B, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C.  Hum Mutat. août 2016;37(8):755‑64.
• Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. Moutton S, Fergelot P, Naudion S, Cordier M-P, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume M-L, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin E-L, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue M-A, Arveiler B, Lacombe D, Goizet C, Coupry I.  J Hum Genet. août 2016;61(8):693‑9.
• A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel J-L, Faivre L. Am J Med Genet A. août 2016;170(8):2103‑10.
• Mutation screening of MIR146A/B and BRCA1/2 3’-UTRs in the GENESIS study. Garcia AI, Buisson M, Damiola F, Tessereau C, Barjhoux L, Verny-Pierre C, Sornin V, Dondon M-G, Eon-Marchais S, GENESIS investigators, Caron O, Gautier-Villars M, Coupier I, Buecher B, Vennin P, Belotti M, Lortholary A, Gesta P, Dugast C, Noguès C, Fricker J-P, Faivre L, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM, Mazoyer S. Eur J Hum Genet. août 2016;24(9):1324‑9.
• Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel A-L, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière J-B, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. Nat Genet. 27 juill 2016;48(8):970.
• Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin M-L, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury M-C, Tranchant C, Anheim M, Koenig M. J Neurol. juill 2016;263(7):1314‑22.
• Survey of 243 ART patients having made a final disposition decision about their surplus cryopreserved embryos: the crucial role of symbolic embryo representation. Bruno C, Dudkiewicz-Sibony C, Berthaut I, Weil E, Brunet L, Fortier C, Pfeffer J, Ravel C, Fauque P, Mathieu E, Antoine JM, Kotti S, Mandelbaum J. Hum Reprod. juill 2016;31(7):1508‑14.
• Calculation of cut-off values based on the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and Pemphigus Disease Area Index (PDAI) pemphigus scoring systems for defining moderate, significant and extensive types of pemphigus. Boulard C, Duvert Lehembre S, Picard-Dahan C, Kern JS, Zambruno G, Feliciani C, Marinovic B, Vabres P, Borradori L, Prost-Squarcioni C, Labeille B, Richard MA, Ingen-Housz-Oro S, Houivet E, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P, International Pemphigus Study Group.  Br J Dermatol. juill 2016;175(1):142‑9.
• Etiologies and prognostic factors of leukocytoclastic vasculitis with skin involvement: A retrospective study in 112 patients. Bouiller K, Audia S, Devilliers H, Collet E, Aubriot MH, Leguy-Seguin V, Berthier S, Bonniaud P, Chavanet P, Besancenot J-F, Vabres P, Martin L, Samson M, Bonnotte B.  Medicine (Baltimore). juill 2016;95(28):e4238.
• The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri J-L, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide A-L, Dupin-Deguine D, Chehadeh S El, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont M-L, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.  Eur J Hum Genet. juill 2016;24(7):992‑1000.
• The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel A-L, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière J-B, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. Nat Genet. juin 2016;48(6):648‑56.
• Heterozygous deletion of the LRFN2 gene is associated with working memory deficits. Thevenon J, Souchay C, Seabold GK, Dygai-Cochet I, Callier P, Gay S, Corbin L, Duplomb L, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh S El, Avila M, Minot D, Guedj E, Chancenotte S, Bonnet M, Lehalle D, Wang Y-X, Kuentz P, Huet F, Mosca-Boidron A-L, Marle N, Petralia RS, Faivre L.  Eur J Hum Genet. juin 2016;24(6):911‑8.
• Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, Chehadeh-Djebbar S El, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB. Clin Genet. juin 2016;89(6):700‑7.
• A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH. Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, Bazin A, de Blois MC, Kuentz P, Catty M, Choiset A, Plessis G, Basinko A, Letard P, Flori E, Jimenez M, Valduga M, Landais E, Lallaoui H, Cartault F, Lespinasse J, Martin-Coignard D, Callier P, Pebrel-Richard C, Portnoi M-F, Busa T, Receveur A, Amblard F, Yardin C, Harbuz R, Prieur F, Le Meur N, Pipiras E, Kleinfinger P, Vialard F, Doco-Fenzy M.  Eur J Hum Genet. juin 2016;24(6):844‑51.
• 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. Nambot S, Masurel A, Chehadeh S El, Mosca-Boidron A-L, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk P-S, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue M-A, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L. Eur J Hum Genet. juin 2016;24(6):830‑7.
• A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. Mosca-Boidron A-L, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière J-B, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit J-M, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T.  Eur J Hum Genet. juin 2016;24(6):838‑43.
• High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations. Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher J-C, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P.  Europace. 17 mai 2016
• Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Rivière J-B, Faivre L.  Clin Genet. mai 2016;89(5):e1‑4.
• A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex M-P, David A, Delahaye-Duriez A, Delezoïde A-L, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont J-P, Cormier-Daire V. Clin Genet. mai 2016;89(5):584‑9.
• Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey. Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron A-L, Thevenon J, Edery P, Alex-Cordier M-P, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot A-M, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PKV, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L.  Clin Genet. mai 2016;89(5):630‑5.
• Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. Kuentz P, Mignot C, St-Onge J, Duffourd Y, Bonniaud B, Faivre L, Rivière J-B, Vabres P.  J Invest Dermatol. mai 2016;136(5):10602.
• Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. Thomas AC, Zeng Z, Rivière J-B, O’Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour J-P, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA.  J Invest Dermatol. avr 2016;136(4):770‑8.
•  Hamadou WS, Abed RE, Besbes S, Bourdon V, Fabre A, Youssef YB, Laatiri MA, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Jemni SY, Noguchi T, Khélif A, Sobol H, Soua Z. Familial hematological malignancies: ASXL1 gene investigation. Clin Transl Oncol. avr 2016;18(4):385‑90.
• Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes? Bressac-de Paillerets B, Vabres P, Thomas L. JAMA Dermatol. avr 2016;152(4):375‑6.
• Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial. Chiaverini C, Roger C, Fontas E, Bourrat E, Bourdon-Lanoy E, Labrèze C, Mazereeuw J, Vabres P, Bodemer C, Lacour J-P.  Orphanet J Rare Dis. 25 mars 2016;11:31.
• Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T.  Am J Hum Genet. 3 mars 2016;98(3):541‑52.
• Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d’Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot J-L, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P, French Familial Melanoma Study Group, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril M-F, Demenais F, Ballotti R, Bressac-de Paillerets B.  Nature. 3 mars 2016;531(7592):126.
• MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel A-L, Gaillard D, Doray B, Lopez E, Rivière J-B, Faivre L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM, Leroux MR. PLoS Biol. mars 2016;14(3):e1002416.
• OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Chevrier V, Bruel A-L, Van Dam TJP, Franco B, Scalzo M Lo, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg J-P, Kuentz P, Thevenon J, Burglen L, Faivre L, Rivière J-B, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C. Hum Mol Genet. 1 févr 2016;25(3):497‑513.
• A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field. Malti R El, Liu H, Doray B, Thauvin C, Maltret A, Dauphin C, Gonçalves-Rocha M, Teboul M, Blanchet P, Roume J, Gronier C, Ducreux C, Veyrier M, Marçon F, Acar P, Lusson J-R, Levy M, Beyler C, Vigneron J, Cordier-Alex M-P, Heitz F, Sanlaville D, Bonnet D, Bouvagnet P.  Eur J Hum Genet. févr 2016;24(2):228‑36.
• TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Lambacher NJ, Bruel A-L, van Dam TJP, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière J-B, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE. Nat Cell Biol. janv 2016;18(1):122‑31.
• Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Chehadeh S El, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel A-L, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière J-B, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JSK, Faivre L.  Eur J Hum Genet. janv 2016;25(1):43‑51.
• Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Chehadeh S El, Faivre L, Mosca-Boidron A-L, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset J-M, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont J-P, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor M-C, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk P-S, Devillard F, Coutton C, Lacombe D, Delrue M-A, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.  Am J Med Genet A. janv 2016;170A(1):116‑29.
• Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk. Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin M-E, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, Chehadeh S El, Duhoux F, Gauthier-Villars M, Saurin J-C, Collonge-Rame M-A, Brugières L, Wang Q, Bressac-de Paillerets B, Rey J-M, Toulas C, Buisine M-P, Bronner M, Sokolowska J, Hardouin A, Cailleux A-F, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T.  Eur J Hum Genet. janv 2016;24(1):99‑105.
• Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J.  Eur J Hum Genet. janv 2016;24(1):e1‑5.
• Update on oral-facial-digital syndromes (OFDS). Franco B, Thauvin-Robinet C. Cilia. 2016;5:12.
• Does Embryo Culture Medium Influence the Health and Development of Children Born after In Vitro Fertilization? Bouillon C, Léandri R, Desch L, Ernst A, Bruno C, Cerf C, Chiron A, Souchay C, Burguet A, Jimenez C, Sagot P, Fauque P.  PLoS ONE. 2016;11(3):e0150857.

• Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcome. Plée J, Le Jan S, Giustiniani J, Barbe C, Joly P, Bedane C, Vabres P, Truchetet F, Aubin F, Antonicelli F, Bernard P.  Sci Rep. 14 déc 2015;5:18001.
• TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. O’Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PYB, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Hollander N Den, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière J-B, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.  Am J Hum Genet. 3 déc 2015;97(6):922‑32.
• Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. Limoge F, Faivre L, Gautier T, Petit J-M, Gautier E, Masson D, Jego G, Chehadeh-Djebbar S El, Marle N, Carmignac V, Deckert V, Brindisi M-C, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L. Hum Mol Genet. 1 déc 2015;24(23):6603‑13.
• Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d’étude des Tumeurs Endocrines study. Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Le Bras M, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Pasmant E, Chabre O, Castermans E, Ruszniewski P, Bertherat J, Delemer B, Christin-Maitre S, Beckers A, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Boullay H Du, Weryha G, Lecomte P, Schillo F, Bihan H, Archambeaud F, Kerlan V, Bourcigaux N, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Eur J Endocrinol. déc 2015;173(6):819‑26.
• New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N’Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.  Ann Neurol. déc 2015;78(6):871‑86.
• Comparison of three different embolic materials for varicocele embolization: retrospective study of tolerance, radiation and recurrence rate. Favard N, Moulin M, Fauque P, Bertaut A, Favelier S, Estivalet L, Michel F, Cormier L, Sagot P, Loffroy R.  Quant Imaging Med Surg. déc 2015;5(6):806‑14.
• Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. Courcet J-B, Minello A, Prieur F, Morisse L, Phelip J-M, Beurdeley A, Meynard D, Massenet D, Lacassin F, Duffourd Y, Gigot N, St-Onge J, Hillon P, Vanlemmens C, Mousson C, Cerceuil J-P, Guiu B, Thevenon J, Thauvin-Robinet C, Jacquemin E, Rivière J-B, Michel-Calemard L, Faivre L.  Am J Med Genet A. déc 2015;167A(12):3046‑53.
• Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.Vanlerberghe C, Faivre L, Petit F, Fruchart O, Jourdain A-S, Clavier F, Gay S, Manouvrier-Hanu S, Escande F.  Clin Genet. nov 2015;88(5):479‑83.
• Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Hum Mutat. nov 2015;36(11):1080‑7.
• Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J-B, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel J-L, Stevenson RE, Friez MJ, Aylsworth AS.  Eur J Hum Genet. nov 2015;23(11):1482‑7.
• Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mansour S, Albanese A, Garcia S, Ortiz Martin D, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes M-L, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière J-B, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Clin Genet. 24 oct 2015
• Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé J-Y, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini J-M, Nagy PL, Odel J, O’Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S.  Orphanet J Rare Dis. 15 oct 2015;10:135.
• Marfan Sartan: a randomized, double-blind, placebo-controlled trial. Milleron O, Arnoult F, Ropers J, Aegerter P, Detaint D, Delorme G, Attias D, Tubach F, Dupuis-Girod S, Plauchu H, Barthelet M, Sassolas F, Pangaud N, Naudion S, Thomas-Chabaneix J, Dulac Y, Edouard T, Wolf J-E, Faivre L, Odent S, Basquin A, Habib G, Collignon P, Boileau C, Jondeau G. Eur Heart J. 21 août 2015;36(32):2160‑6.
• Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, Chehadeh-Djebbar S El, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S.  Am J Hum Genet. 6 août 2015;97(2):311‑8.
• RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. Thevenon J, Michot C, Bole C, Nitschke P, Nizon M, Faivre L, Munnich A, Lyonnet S, Bonnefont J-P, Portes VD, Amiel J.  Am J Med Genet A. août 2015;167A(8):1908‑12.
• Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray F-G, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat M-P, Lemoine S, Leroy V, Loirat C, Macher M-A, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc A-L, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R.  Hum Mutat. août 2015;36(8):743‑52.
• Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Khattabi L El, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide A-L, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet A-C, Valduga M, Vermelle M, Carella M, Dupont J-M, Verloes A, Benzacken B, Delahaye A.  Eur J Hum Genet. août 2015;23(8):1010‑8.
• Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. Chiaverini C, Fontas E, Vabres P, Bessis D, Mazereeuw J, Charlesworth A, Meneguzzi G, Lacour J-P. Br J Dermatol. août 2015;173(2):563‑4.
• Severe X-linked chondrodysplasia punctata in nine new female fetuses.Lefebvre M, Dufernez F, Bruel A-L, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune J-M, Bigi N, D’Olne D, Delezoide A-L, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, Chehadeh S El, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière J-B, Faivre L, Laurent N, Thauvin-Robinet C.  Prenat Diagn. juill 2015;35(7):675‑84.
• Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Courcet J-B, Elalaoui SC, Duplomb L, Tajir M, Rivière J-B, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton M-H, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Eur J Hum Genet. juill 2015;23(7):957‑62.
• Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L.  Am J Med Genet A. juill 2015;167(7):1587‑92.
• Germline correction of an epimutation related to Silver-Russell syndrome. Bruno C, Carmignac V, Netchine I, Choux C, Duffourd Y, Faivre L, Thauvin-Robinet C, Le Bouc Y, Sagot P, Bourc’his D, Fauque P.  Hum Mol Genet. 15 juin 2015;24(12):3314‑21.
• Psoriasis and obesity in French children: a case-control, multicentre study. Mahé E, Beauchet A, Bodemer C, Phan A, Bursztejn A-C, Boralevi F, Souillet A-L, Chiaverini C, Bourrat E, Miquel J, Vabres P, Barbarot S, Bessis D, Eschard C, Hadj-Rabia S, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Br J Dermatol. juin 2015;172(6):1593‑600.
• Lok C, Vabres P, Beylot-Barry M, Wolkenstein P. [Foreword]. Ann Dermatol Venereol. juin 2015;142 Suppl 2:S23.
• Phase I trial of everolimus in combination with thoracic radiotherapy in non-small-cell lung cancer. Deutsch E, Le Péchoux C, Faivre L, Rivera S, Tao Y, Pignon J-P, Angokai M, Bahleda R, Deandreis D, Angevin E, Hennequin C, Besse B, Levy A, Soria J-C.  Ann Oncol. juin 2015;26(6):1223‑9.
• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJM, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. Genet Med. juin 2015;17(6):460‑6.
• [Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene]. Abdou A, Daoui L, Charlesworth A, Chiaverini C, Algros M-P, Puzenat E, Chantegret C, Vabres P, Lacour J-P, Aubin F. Ann Dermatol Venereol. mai 2015;142(5):346‑9.
• Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli Z-S, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT.  Eur J Hum Genet. mars 2015;23(3):292‑301.
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier M-P, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet J-B, Rivière J-B, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Clin Genet. mars 2015;87(3):244‑51.
• Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients. Joly M-O, Attignon V, Saurin J-C, Desseigne F, Leroux D, Martin-Denavit T, Giraud S, Bonnet-Dupeyron M-N, Faivre L, Auclair J, Grand-Masson C, Audoynaud C, Wang Q. Hum Mutat. mars 2015;36(3):292‑5.
• A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. Dutkiewicz A-S, Ezzedine K, Mazereeuw-Hautier J, Lacour J-P, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil J-F, Léauté-Labrèze C, Groupe de Recherche Clinique en Dermatologie Pédiatrique. J Am Acad Dermatol. mars 2015;72(3):473‑80.
• Burden of inherited ichthyosis: a French national survey. Dreyfus I, Pauwels C, Bourrat E, Bursztejn A-C, Maruani A, Chiaverini C, Maza A, Mallet S, Bessis D, Barbarot S, Ezzedine K, Vabres P, Mazereeuw-Hautier J.  Acta Derm Venereol. mars 2015;95(3):326‑8.
• The revised ghent nosology; reclassifying isolated ectopia lentis. Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G.  Clin Genet. mars 2015;87(3):284‑7.
• A randomized, controlled trial of oral propranolol in infantile hemangioma. Léauté-Labrèze C, Hoeger P, Mazereeuw-Hautier J, Guibaud L, Baselga E, Posiunas G, Phillips RJ, Caceres H, Lopez Gutierrez JC, Ballona R, Friedlander SF, Powell J, Perek D, Metz B, Barbarot S, Maruani A, Szalai ZZ, Krol A, Boccara O, Foelster-Holst R, Febrer Bosch MI, Su J, Buckova H, Torrelo A, Cambazard F, Grantzow R, Wargon O, Wyrzykowski D, Roessler J, Bernabeu-Wittel J, Valencia AM, Przewratil P, Glick S, Pope E, Birchall N, Benjamin L, Mancini AJ, Vabres P, Souteyrand P, Frieden IJ, Berul CI, Mehta CR, Prey S, Boralevi F, Morgan CC, Heritier S, Delarue A, Voisard J-J.  N Engl J Med. 19 févr 2015;372(8):735‑46.
• High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier J-L, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot M-C, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens C-M, Hamel CP.  Am J Ophthalmol. févr 2015;159(2):302‑14.
• SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P. Oncogene. 29 janv 2015;34(5):631‑8.
• WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard M-L, Nougues M-C, Vermersch A-I, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant J-L, Jonveaux P, Philippe C.  J Med Genet. janv 2015;52(1):61‑70.
• New insights into genotype-phenotype correlation for GLI3 mutations. Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide A-L, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue M-A, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont M-L, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet M-L, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T.  Eur J Hum Genet. janv 2015;23(1):92‑102.
• Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma. Avril M-F, Bahadoran P, Cabaret O, Caron O, de la Fouchardière A, Demenais F, Desjardins L, Frébourg T, Hammel P, Leccia M-T, Lesueur F, Mahé E, Martin L, Maubec E, Remenieras A, Richard S, Robert C, Soufir N, Stoppa-Lyonnet D, Thomas L, Vabres P, Bressac-de Paillerets B. Ann Dermatol Venereol. janv 2015;142(1):26‑36.
• Target modulation by a kinase inhibitor engineered to induce a tandem blockade of the epidermal growth factor receptor (EGFR) and c-Src: the concept of type III combi-targeting. Rao S, Larroque-Lombard A-L, Peyrard L, Thauvin C, Rachid Z, Williams C, Jean-Claude BJ. PLoS ONE. 2015;10(2):e0117215.
• Angelman syndrome: a case series assessing neurological issues in adulthood. Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E, Medeiros de Bustos E, Thauvin-Robinet C, Faivre L, Masurel A, Darmency-Stamboul V, Huet F, Béjot Y, Giroud M, Moulin T. Eur Neurol. 2015;73(1-2):119‑25.
• Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. Chehadeh S El, Bonnet C, Callier P, Béri M, Dupré T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C. JIMD Rep. 2015;20:45‑55.
• 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome. Desch L, Marle N, Mosca-Boidron A-L, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, Chehadeh S El, Callier P.  Mol Cytogenet. 2015;8:42.
• Impact on ICSI outcomes of adding 24 h of in vitro culture before testicular sperm freezing: a retrospective study. Desch L, Bruno C, Herbemont C, Michel F, Bechoua S, Girod S, Sagot P, Fauque P.  Basic Clin Androl. 2015;25:6.
• The placenta: phenotypic and epigenetic modifications induced by Assisted Reproductive Technologies throughout pregnancy. Choux C, Carmignac V, Bruno C, Sagot P, Vaiman D, Fauque P.  Clin Epigenetics. 2015;7:87

• De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KP, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J; FORGE Canada Consortium, Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG.  Nat Genet. 2014;46(5):510-5.
• The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Thauvin-Robinet C*, Lee JS*, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, González-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Rivière JB, Attié-Bitach T, Garcia-Verdugo JM, Faivre L, Mégarbané A, Nachury MV. Nat Genet. 2014;905-11.  * equally contributors
• Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Neuron. 2014;84(6):1226-39.
• The Gpr1/Zdbf2 locus provides new paradigms for transient and dynamic genomic imprinting in mammals. Duffié R, Ajjan S, Greenberg MV, Zamudio N, Escamilla del Arenal M, Iranzo J, Okamoto I, Barbaux S, Fauque P, Bourc’his D. Genes Dev. 2014;28(5):463-78.
• Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB.  Am J Hum Genet. 2014;95(1):113-20.
• Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S.  PLoS Genet. 2014 ;10(5):e1004340.
• Duplomb L, Duvet S, Picot D, Jego G, El Chehadeh-Djebbar S, Marle N, Gigot N, Aral B, Carmignac V, Thevenon J, Lopez E, Rivière JB, Klein A, Philippe C, Droin N, Blair E, Girodon F, Donadieu J, Bellanné-Chantelot C, Delva L, Michalski JC, Solary E, Faivre L, Foulquier F, Thauvin-Robinet C. Cohen syndrome is associated with major glycosylation defects. Hum Mol Genet. 2014;23(9):2391-9.
• Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies. Kinsler VA, Krengel S, Rivière JB, Waelchli R, Chapusot C, Al-Olabi L, Faivre L, Haenssle HA, Weibel L, Jeudy G, Vabres P.  J Invest Dermatol. 2014;134(10):2658-60.
• 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP,  Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N,  Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L.  J Med Genet. 2014;51:21-7.
• Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A.  J Med Genet. 2014;51(11):724-36.
• Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J.  Hum Mutat. 2014;35(4):478-85.
• Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. Ferrari F, Masurel A, Olivier-Faivre L, Vabres P.  JAMA Dermatol. 2014;150(1):42-6.
• C5orf42 is the major gene responsible for OFD syndrome type VI. Lopez E*, Thauvin-Robinet C*, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L*, Attié-Bitach T*.  Hum Genet. 2014;133(3):367-77.
• 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gérard B, Peoc’h K, Launay JM, Faivre L, Mandel JL.  Eur J Hum Genet. 2014;22(6):776-83.
• CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Del Giudice E, Macca M, Imperati F, D’Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group.  Orphanet J Rare Dis. 2014;9:74.
• Prevalence of inherited ichthyosis in France: a study using capture-recapture method. Dreyfus I, Chouquet C, Ezzedine K, Henner S, Chiavérini C, Maza A, Pascal S, Rodriguez L, Vabres P, Martin L, Mallet S, Barbarot S, Dupuis J, Mazereeuw-Hautier J.  Orphanet J Rare Dis. 2014;9:1.
• Clinical success of intrauterine insemination cycles is affected by the sperm preparation time. Fauque P, Lehert P, Lamotte M, Bettahar-Lebugle K, Bailly A, Diligent C, Clédat M, Pierrot P, Guénédal ML, Sagot P.  Fertil Steril. 2014;101(6):1618-23.e1-3.
• 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D. Orphanet J Rare Dis. 2014;9:207.
• Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet A, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier M, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca A, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.  Clin Genet. 2014;85(3):233-44.
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, Didonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L*, Thauvin-Robinet C*. Clin Genet. 2014;87:244-51.
• Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P. Clin Genet. 2014;86:326-34.
• Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F. Clin Genet. 2014;85(5):464-9.
• Intrafamilial variability of ZRS-Associated syndrome: Characterisation of a mosaic ZRS mutation by pyrosequencing. Vanlerberghe C, Faivre L, Petit F, Fruchart O, Jourdain AS, Clavier F, Gay S, Manouvrier-Hanu S, Escande F. Clin Genet. 2014 Nov 10.
• Aplasia cutis congenita in dystrophic epidermolysis bullosa: clinical and mutational study. Chiaverini C, Charlesworth A, Fernandez A, Barbarot S, Bessis D, Bodemer C, Bursztejn AC, Cobo AM, Del Rio M, D’Incan M, Labrèze C, Langlet C, Mazereeuw J, Miquel J, Vabres P, Meneguzzi G, Lacour JP. Br J Dermatol. 2014;170(4):901-6.
• Factors Associated with Impaired Quality of Life in Adult Patients Suffering from Ichthyosis. Dreyfus I, Bourrat E, Maruani A, Bessis D, Chiavérini C, Vabres P, Ezzedine K, Mazereeuw-Hautier J.  Acta Derm Venereol. 2014;94(3):344-6
• New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C.  Am J Med Genet A. 2014;164A(8):1965-75.
• Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A.  Am J Med Genet A. 2014;164(7):1821-5.
• Expanding the clinical phenotype of patients with a ZDHHC9 mutation. Masurel-Paulet A, Kalscheuer VM, Lebrun N, Hu H, Levy F, Thauvin-Robinet C, Darmency-Stamboul V, El Chehadeh S, Thevenon J, Chancenotte S, Ruffier-Bourdet M, Bonnet M, Pinoit JM, Huet F,  Desportes V, Chelly J, Faivre L.  Am J Med Genet A. 2014;164A(3):789-95.
• Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, El Chehadeh S, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C. Am J Med Genet A. 2014;164:522-7.
• Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C.  Am J Med Genet A. 2014.;164(12):3027-34.
• Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis. Masurel-Paulet A, Drumare I, Holder M, Cuisset JM, Vallée L, Defoort S, Bourgois B, Pernes P, Cuvellier JC, Huet F, El Chehadeh S, Thevenon J, Callier P, Thauvin C, Faivre L, Andrieux J.  Am J Med Genet A. 2014;164A(6):1537-44.
• Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation. Magnin E, Blagosklonov O, Sylvestre G, Minot D, Thevenon J, Faivre L, Boulahdour H, Thauvin-Robinet C, Rumbach L.  Brain Dev. 2014;36(8):711-5.
• Do we need congenital adrenal hyperplasia screening for premature infants?. Huet F, Godefroy A, Cheillan D, Somma C, Roussey M.  Arch Pediatr. 2014;21:233-6.

• Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM.  Am J Hum Genet. 2013;93:1100-7.
• Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. Chouery E, Guissart C, Mégarbané H, Aral B, Nassif C, Thauvin-Robinet C, Faivre L, Mégarbané A.  Eur J Med Genet. 2013 Dec;56(12):674-7.
• Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P. Clin Genet. 2013. doi: 10.1111/cge.12275.
• The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. Mehawej C, Courcet JB, Baujat G, Mouy R, Gérard M, Landru I, Gosselin M, Koehrer P, Mousson C, Breton S, Quartier P, Le Merrer M, Faivre L, Cormier-Daire V.  Am J Med Genet A. 2013;161A(12):3023-9.
• Finger creases lend a hand in Kabuki syndrome. Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D.  Eur J Med Genet. 2013;56(10):556-60.
• PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Rivière JB.  Am J Hum Genet. 2013;93(1):141-9.
• Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene. Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L.  Am J Med Genet A. 2013;161A(7):1594-8.
• Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH.  Am J Hum Genet. 2013;92(5):781-91.
• Additional evidence to support the role of the 20q13.33 region in susceptibility to autism. Mosca-Boidron AL, Valduga M, Thauvin-Robinet C, Lagarde N, Marle N, Henry C, Pinoit JM, Huet F, Béri-Deixheimer M, Ragon C, Gueneau L, Payet M, Callier P, Mugneret F, Jonveaux P, Faivre L.  Am J Med Genet A. 2013;161A(6):1505-7.
• Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.  Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A.  Med Genet. 2013;163C(2):92-105.
• An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks’ gestation. Mosca-Boidron AL, Faivre L, Aho S, Marle N, Truntzer C, Rousseau T, Ragon C, Payet M, Thauvin-Robinet C, Thevenon J, El Chehadeh S, Huet F, Sagot P, Mugneret F, Callier P. PLoS One. 2013;8(4):e59956.
• Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, Gübler MC, Antignac C, Heidet L.  Clin J Am Soc Nephrol. 2013;8(7):1179-87.
• Clinical and molecular spectrum of renal malformations in Kabuki syndrome. Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D. J Pediatr. 2013;163(3):742-6.
• Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C.  Eur J Med Genet. 2013;56(6):301-8.
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue M, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk P, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor M, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron A, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L.  Clin Genet. 2013;84(6):507-21
• Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N. Am J Med Genet A. 2013;161A(4):671-8.
• CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. J Med Genet. 2013;50(4):220-7.
• Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d’etude des Tumeurs Endocrines (GTE) cohort study. Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Murat A, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Parfait B, Chabre O, Castermans E, Beckers A, Ruszniewski P, Le Bras M, Delemer B, Bouchard P, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Penfornis A, Bihan H, Archambeaud F, Kerlan V, Duron F, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P.  Hum Mol Genet. 2013;22(10):1940-8.
• Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I. Eur J Hum Genet. 2013;21(8):855-63.
• Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.  El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L. Eur J Hum Genet. 2013;21(7):736-42.
• The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.  Eur J Hum Genet. 2013;21(6):602-12.
• OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T.  Clin Genet. 2013;84(1):86-90.
• Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V.  Hum Mutat. 2013;34(1):88-92.
• 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L. Eur J Hum Genet. 2013;21(1):82-8.

• CHRNG Genotype Phenotype Correlations in the Multiple Pterygium syndromes. J. Vogt, NV. Morgan, P. Rehal, L. Faivre, LA. Brueton, K. Becker, JP. Fryns, S. Holder, L. Islam, E. Kivuva, SA. Lynch, R. Touraine, LC. Wilson, F. MacDonald, ER Maher. J Med Genet 2012;49:21-6. 
• High frequency of genomic imbalances detected by array-CGH in patients with syndromic developmental eye anomalies. A. Delahaye, P. Bitoun, S. Drunat, M. Gérard-Blanluet, N. Chassaing, A. Toutain, A. Verloes, X. Gatelais, M. Legendre, L. Faivre, S. Passemard, A. Aboura, S. Kaltenbach, S. Quentin, C. Dupont, AC. Tabet, S. Amselem, J. Elion, P. Gressens, E. Pipiras, B. Benzacken.  Eur J Hum Genet 2012;20:527-33.
• Exploring the potential role of disease-causing mutation in a gene desert: duplication of non-coding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability. C. Bonnet, A. Masurel-Paulet, A. Ali Khan, M. Béri-Dexheimer, P. Callier, F. Mugneret, C. Philippe, C. Thauvin-Robinet, L. Faivre, P. Jonveaux. Hum Mut 2012;33:355-8. 
• Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum. S. Whalen, D. Héron, T. Gaillon, O. Moldovan, M. Rossi, F. Devillard, F. Giuliano, G. Soares, M. Mathieu-Dramard, A. Afenjar, P. Charles, C. Mignot, L. Burglen, L. Van Maldergem, J. Piard, S. Aftimos, G. Mancini, P. Dias, N. Philip, A. Goldenberg, M. Le Merrer, M. Rio, D. Josifova, J.M. Van Hagen, D. Lacombe, P. Edery, S. Dupuis-Girod, A. Putoux, D. Sanlaville, R. Fischer, L. Drévillon, A. Briand-Suleau, C. Metay, M. Goossens, J. Amiel, A. Jacquette, I. Giurgea.  Hum Mutat 2012;33:64-72. 
• The new Ghent criteria: What do they change? L. Faivre, G. Collod-Beroud, L. Adès, E. Arbustini, A. Child, B. Loeys, C. Binquet, E. Gautier, K. Mayer, M. Arslan-Krichner, M. Grasso, C. Beroud, D. Hamroun, C. Bonithon-Kopp, H. Plauchu, PN. Robinson, J. De Backer, P. Coucke, U. Francke, O. Bouchot, JE. Wolf, C. Stheneur, N. Hanna, D. Detaint, A. De Paepe, C. Boileau, G. Jondeau G. Clin Genet 2012;81(5):433-42. 
• Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. J. Piard, M. Holder-Espinasse, B. Aral, N. Gigot, M. Rio, M. Tardieu, E. Puzenat,A. Goldenberg, A. Toutain, J. Franques, K. Macdermot, D. Bessis, O. Boute, P. Callier, L. Gueneau, F. Huet, P. Vabres, B. Catteau, L. Faivre, C. Thauvin-Robinet.  Eur J Med Genet, 2012;55:8-11. 
• Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q14.3q21.1. E. Lopez, P. Callier, V. Cormier-Daire, D. Lacombe, A. Moncla, A Bottani, S. Lambert, A. Goldenberg, B. Doray, L. Van Maldergem, D. Sanlaville, L. Gueneau, B. Aral, C. Thauvin-Robinet, L. Faivre.  Am J Med Genet, 2012;158A:333-9. 
• Homozygous SMN1 exon 1-6 deletion: pitfalls in the diagnosis and genetic counselling in Spinal Muscular Atrophy. C. Thauvin-Robinet, S. Drunat, P. Saugier-Veber, V.Cusin, M. Cossée, A. Reeber, C. Cassini, P. Soichot, A. Masurel-Paulet, J.V. De Monléon, P. Sagot, F. Huet, L. Faivre, B. Gérard and the French Network of Molecular geneticist in neuromuscular disorder.  Am J Med Genet A 2012;158A:1735-41. 
• Clinical spectrum of intragenic CAMTA1 rearrangements: From non- progressive congenital ataxia to intellectual disability. J. Thevenon, E. Lopez, B. Keren, D. Heron, C. Mignot, C. Altuzara, M. Béri-Dexheimer, C. Bonnet, E. Magnin, L. Burglen, D. Minot, J. Vigneron, S. Morle, M. Anheim, P. Charles, A. Brice, L. Gallagher, J. Amiel, E. Haffen, C. Mach, C. Depienne, D. Doummar, M. Bonnet, L. Duplomb, V. Carmignac, P. Callier, A.L. Mosca-Boidron, V. Roze, B. Aral, F. Razavi, P. Jonveaux, L. Faivre,C. Thauvin-Robinet.  J Med Genet 2012;49:400-8. 
• Optimal timing for oocyte denudation and intracytoplasmic sperm injection. C. Patrat, A. Kaffel, L. Delaroche, J. Guibert, P. Jouannet, S. Epelboin, D. De Ziegler, J.P. Wolf, P. Fauque. Obstet Gynecol Int 2012;2012:403531. 
• [Pre-washing catheter dramatically improves the post intrauterine insemination pregnancy rate]. J.C. Pont, C. Patrat, P. Fauque, M.L. Camp, V. Gayet, J.P. Wolf.  Gynecol Obstet Fertil 2012;40:356-9. 
• TCTN3 Mutations Cause Mohr-Majewski Syndrome. S. Thomas, M. Legendre, S. Saunier, B. Bessières, C. Alby, M. Bonnière, A. Toutain, L. Loeuillet, K. Szymanska, F. Jossic, D. Gaillard, M.T. Yacoubi, S. Mougou-Zerelli, A. David, M.A. Barthez, Y. Ville, C. Bole-Feysot, P. Nitschke, S. Lyonnet, A. Munnich, C.A. Johnson, F. Encha-Razavi, V. Cormier-Daire, C. Thauvin-Robinet, M. Vekemans, T. Attié-Bitach. Am J Hum Genet 2012;91:372-8.
• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. F. Zufferey, E.H Sherr, N.D. Beckmann, E. Hanson, A.M. Maillard, L. Hippolyte, A. Macé, C. Ferrari, Z. Kutalik, J. Andrieux, E. Aylward, M. Barker, R. Bernier, S. Bouquillon, P. Conus, B. Delobel, W.A. Faucett, R.P. Goin-Kochel, E. Grant, L. Harewood, J.V. Hunter, S. Lebon, D.H. Ledbetter, C.L. Martin, K. Männik, D. Martinet, P. Mukherjee, M.B. Ramocki, S.J. Spence, K.J. Steinman, J. Tjernagel, J.E.Spiro, A. Reymond, J.S. Beckmann, W.K. Chung, S. Jacquemont, Simons VIP Consortium, 16p11.2 European Consortium (L. Faivre, P. Callier).  J Med Genet 2012;49:660-8.
• The DYRK1A gene is a cause of Angelman-like syndrome with severe microcephaly. J.B. Courcet, L. Faivre, P. Malzac, A. Masurel-Paulet, P. Callier, L. Lambert, M. Lemesle, E. Lopez, J. Thevenon, N. Gigot, L. Jego, C. Ragon, N. Marle, A.L. Mosca-Boidron, F. Huet, C. Philippe, A. Moncla, C. Thauvin-Robinet. J Med Genet 2012;49:731-6. 
• Novel KIF7 mutations extend the phenotypic spectrum of acrocallosum syndrome. A. Putoux, S. Nampoothiri, N. Laurent, V. Cormier-Daire, P.L. Beales, A. Schinzel, D. Barthoisi, C. Alby, S. Thomas, N. Elkhartoufi, A. Ichkou, J. Litzler, A. Munnich, F. Encha-Razavi, R. Jannan, L. Faivre, N. Boddaert, A. Rauch, M. Vekemans, T. Attié-Bitach. J Med Genet 2012;49:713-20.
• V. Carmignac, J. Thevenon, L. Adès, B. Callewaert, S. Julia, C. Thauvin-Robinet, L. Gueneau, JB. Courcet, E. Lopez, K. Holman, M. Renard, H. Plauchu, G. Plessis, J. De Backer, A. Child, G. Arno, L. Duplomb, P. Callier, B. Aral, P. Vabres, N. Gigot, E. Arbustini, M. Grasso, PN. Robinson, C. Goizet, C. Baumann, M. Di Rocco, J. Sanchez Del Pozo, F. Huet, G. Jondeau, G. Collod-Beroud, C. Beroud, J. Amiel, V. Cormier-Daire, JB. Rivière, C. Boileau, A. De Paepe, L. Faivre. Am J Hum Genet 2012;91:950-7.
• [A hypothesis on the pathogeny of rounded and linear epidermal nevi (nevoid acanthosis nigricans)]. P. Vabres. Ann Dermatol Venereol 2012;139:177-9. 
• [Results of early growth hormone treatment in children with hypopituitarism]. F. Huet, C. Bensignor, M. Polak, J.C. Carel.  Bull Acad Natl Med 2012;196:117-23.
• What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome? F. Coron, T. Rousseau, G. Jondeau, E. Gautier, C. Binquet, L. Gouya, V. Cusin, S. Odent, Y. Dulac, H. Plauchu, P. Collignon, M.A. Delrue, B. Leheup, L. Joly, F. Huet, J. Thevenon, G. Mace, C. Cassini, C. Thauvin-Robinet, J.E. Wolf, N. Hanna, P. Sagot, C. Boileau, L. Faivre.  Prenat Diagn 2012;32:1318-23.
• Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U.  Hum Genet. 2012;131:1761-73. 
• RAD21 mutations cause a human cohesinopathy. Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ.  Am J Hum Genet 2012;90:1014-27.
• Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance; Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R.  Eur J Hum Genet 2012;20:1024-31. 
• Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). Piard J, Verloes A, Cavé H, Peuchmaur M, Bennaceur S, Leheup B. Am J Med Genet A 2012;158A(6):1406-10. 
• Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis. Ramanah R, Martin A, Guigue V, Arbez-Gindre F, Piard J, Terrosi P, Alanio E, Favre R, Gaillard D, Riethmuller D. Ultrasound Obstet Gynecol 2012;40:724-5. 
• Coronal craniosynostosis and radial ray hypoplasia: A third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia. J. Piard, C. Collet, F. Arbez-Gindre, A. Nirhy-Lanto, L. Van Maldergem. Eur J Med Genet 2012;55:719-22

• At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study. E. Sbidian, S. Bastuji-Garin, L. Valeyrie-Allanore, S. Ferkal, J.P. Lefaucheur, A. Drouet, P. Brugière, C. Vialette, P. Combemale, S. Barbarot, P. Wolkenstein; NF France Network (L. Faivre, C. Thauvin). Orphanet J Rare Dis 2011;6:51.
• Notch, a new signaling pathway implicated in holoprosencephaly. V. Dupé, L. Rochard, S. Mercier, Y. Le Pétillon, I. Gicquel, C. Bendavid, G. Bourrouillou, U. Kini, C. Thauvin-Robinet, T.P. Bohan, S. Odent, C. Dubourg, V. David.  Hum Mol Genet 2011;20:1122-31.
• Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. M. Arslan-Kirchner, JT. Epplen, L. Faivre, G. Jondeau, J. Schmidtke, A. De Paepe, B. Loeys. . Eur J Hum Genet. 2011 Apr 27. doi: 10.1038/ejhg.2011.68.
• Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. C. Cluzeau, S. Hadj-Rabia, M. Jambou, S. Mansour, P. Guigue, S. Masmoudi, E. Bal, N. Chassaing, M.C. Vincent, G. Viot, F. Clauss, M.C. Manière, S. Toupenay, M. Le Merrer, S. Lyonnet, V. Cormier-Daire, J. Amiel, L. Faivre, Y. de Prost, A. Munnich, J.P. Bonnefont, C. Bodemer, A. Smahi. Hum Mutat 2011;32:70-2.
• Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disease with osteoporosis. B. Isidor, P. Lindenbaum, O. Pichon, S. Bézieau, C. Dina, S. Jacquemont, D. Martin-Coignard, C. Thauvin-Robinet, M. Le Merrer, JL. Mandel, A. David, L. Faivre, V. Cormier-Daire, R. Redon, C Le Caignec.  Nat Genet 2011;43:306-8.
• Outcome of kidney transplantation in type I oral-facial-digital syndrome D. Halleux, K. Dahan, C. Thauvin-Robinet, B. Aral, C. Pouteil-Noble, O. Devuyst, Y. Pirson. . Transpl Int 24:e48-e50.
• Cerebral dysgenesis does not exclude OFD I syndrome. C. Thauvin-Robinet, G. Lesca, B. Aral, N. Gigot, S. Lambert, L. Gueneau, M. Macca, B. Franco, F. Huet, M.T. Zabot, T. Attié-Bitach, J. Attia-Sobol, L. Faivre. Am J Med Genet A. 2011;155:455-7.
• Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. E. Schaefer, M. Durand, C. Stoetzel, B. Doray, B. Viville, S. Hellé, J.M. Danse, C. Hamel, P. Bitoun, A. Goldenberg, S. Finck, L. Faivre, S. Sigaudy, M. Holder, M.C. Vincent, V. Marion, D. Bonneau, A. Verloes, I. Nisand, J.L. Mandel, H. Dollfus. Eur J Med Genet 2011;54:157-60.
• ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. H. Hichri, L. Faivre, B. Demeer, C. Philippe, V. Laugel, M. Antin, J.M. Pinoit, B. Leheup, A. de Saint-Martin, J. Chelly, J.L. Mandel, D. Devys, M. Cossée.  Am J Med Genet 2011;155A:98-105.
• Lung disease associated with periventricular nodular heterotopia and FLNA mutation. A. Masurel-Paulet, C. Goizet, E.M. Thompson, A. Tai, D. Kennedy, E. Haan, G. Smith, E. Landre, N. Mejean, A. Houzel, N. Bahi-Buisson, M. Chouchane, C. Thauvin-Robinet, F. Huet, S. Roberston, L. Faivre. Eur J Med Genet 2011;54:25-8.
• Prognosis factors in probands with FBN1 mutation diagnosed before one year. C. Stheneur, L. Faivre, G. Collod-Beroud, E. Gautier, C. Binquet, C. Bonithon-Kopp, M. Claustres, AH Child, E Arbustini, LC. Ades, U. Francke, K. Mayer, M. Arslan-Kirchner, A. De Paepe, B. Chevallier, D. Bonnet, G. Jondeau, C. Boileau. Ped Research 2011;69:265-70.
• De novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection. J. Thevenon, P. Callier, C. Thauvin-Robinet, I. Desguerres, A. Masurel-Paulet, N. Mejean, S. Falcon-Eicher, D. Dipanda, D. Perrin, S. Bidot, F. Huet, M. Beri-Dexheimer, P. Jonveaux, F. Mugneret, L. Faivre. Am J Med Genet 2011;155A:126-9.
• Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia. M. Cognet, A. Nougayrede, V. Malan, P. Callier, D. Geneviève, A. Goldenberg, D. Heron, A. Verloes, N. Philip, L. Faivre, C. Cretole, S. Sarnaki, A. Munnich, S. Lyonnet, M. Vekemans, H. Etchevers, J. Amiel, L. de Pontual. J Med Genet 2011;19:602-6.
• 17q21.31 microdeletion syndrome in a patient with pituitary stalk interruption syndrome. S. El Chehadeh, P. Callier, A. Masurel-Paulet, C. Bensignor, N. Méjean, C. Durand, N. Marle, A.L. Mosca-Boidron, F. Huet, F. Mugneret, L. Faivre, C. Thauvin-Robinet. Eur J Med Genet 2011 ; 54 : 369-373.
• Written information to patients in clinical genetics: what’s the impact? C. Cassini, C. Thauvin-Robinet, S. Vinault, C. Binquet, F. Coron, S. Mercier, N. Laguette, N. Herman, L. Faivre.  Eur J Med Genet 2011; 54: 277-280.
• KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. A. Putoux, S. Thomas, K. Coene, E.E. Davis, Y. Alanay, G. Ogur, E. Uz, D. Buzas, C. Gomes, S. Patrier, C.L. Bennett, N. Elkhartoufi, M.H. Saint Frison, L. Rigonnot, N. Joyé, S. Pruvost, G.E. Utine, K. Boduroglu, P. Nitschke, L. Fertitta, C. Thauvin-Robinet, A. Munnich, V. Cormier-Daire, R. Hennekam, E. Colin, N.A. Akarsu, C. Bole-Feysot, N. Cagnard, A. Schmitt, N. Goudin, S. Lyonnet, F. Encha-Razavi, J.P. Siffroi, M. Winey, N. Katsanis, M. Gonzales, M. Vekemans, P.L. Beales, T. Attié-Bitach.  Nat Genet 2011;43:601-6.
• Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. R. Micol, L. Ben Slama, F. Suarez, L. Le Mignot, J. Beauté, N. Mahlaoui, C. Dubois d’Enghien, A. Laugé, J. Hall, J. Couturier, L. Vallée, B. Delobel, F. Rivier, K. Nguyen, T. Billette de Villemeur, J.L. Stephan, P. Bordigoni, Y. Bertrand, N. Aladjidi, J.M. Pedespan, C. Thomas, I. Pellier, M. Koenig, O. Hermine, C. Picard, D. Moshous, B. Neven, F. Lanternier, S. Blanche,M. Tardieu, M. Debré, A. Fischer, D. Stoppa-Lyonnet; CEREDIH Network Investigators (C. Thauvin-Robinet). J Allergy Clin Immunol 2011;128:382-9.e1.
• A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region. A.L. Mosca, P. Callier, L. Faivre, N. Laurent, T. Rousseau, N. Marle, P. Sagot, C. Thauvin-Robinet, F. Mugneret. Am J Med Genet 2011;155A:2031-4.
• The new Ghent criteria for Marfan syndrome: What do they change? L. Faivre, G. Collod-Beroud, L. Adès, E. Arbustini, A. Child, B. Calleweart, B. Loeys, C. Binquet, E. Gautier, K. Mayer, M. Arslan-Kirchner, M. Grasso, C. Beroud, D. Hamroun, C. Bonithon-Kopp, H. Plauchu, P. Robinson, J. De Backer, P. Coucke, U. Francke, O. Bouchot, J. Wolf, C. Stheneur, N. Hanna, D. Detaint, A. De Paepe, C. Boileau, G. Jondeau. Clin Genet. 2011 May 12. doi: 10.1111/j.1399-0004.2011.01703.
• The power of high resolution non-targeted array CGH in identifying intragenic rearrangements responsible for Cohen syndrome. S. El Chehadeh, L. Faivre, A. Moncla, B. Aral, C. Missirian, C. Popovici, P. Rump, AJ. Van Essen, AM. Frances, N. Gigot, V. Cusin, A. Masurel-Paulet, M. Payet, C. Ragon, N. Marle, AL. Mosca-Boidron, F. Huet, I. Balikova, JR. Teyssier, F. Mugneret, C. Thauvin-Robinet, P. Callier. J Med Genet 2011 Nov;48:e1.
• Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. C. Bonnet, M. Grati, S. Marlin, J. Levilliers, J.P. Hardelin, M. Parodi, M. Niasme-Grare, D. Zelenika, M. Delepine, D. Feldmann, L. Jonard, A. El-Amraoui, D. Weil, B. Delobel, C. Vincent, H. Dollfus, M.M. Eliot, A. David, C. Calais, J. Vigneron, B. Montaut-Verient, D. Bonneau, J. Dubin, C Thauvin, A. Duvillard, C. Francannet, T. Mom, D. Lacombe, F. Duriez, V. Drouin-Garraud, M.F. Thuillier-Obstoy, S. Sigaudy, A.M. Frances, P. Collignon, G. Challe, R. Couderc, M. Lathrop, J.A Sahel, J. Weissenbach, C. Petit, F. Denoyelle.  Orphanet J Rare Dis 2011;6:21.
• GLI3 is rarely implicated in OFD syndrome with midline abnormalities. M. Avila, B. Aral, P. Callier, N. Gigot, M. Payet, C. Ragon, J. Thevenon, L. Pasquier, E. Lopez, A. Goldenberg, C. Baumann, V. Cormier, S. Marlin, A. Masurel, F. Huet, T. Attié-Bitach, L. Faivre, C. Thauvin-Robinet.  Hum Mutat 2011;32:1332-3.
• New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. J. Demars, S. Rossignol, I. Netchine, K.S. Lee, M. Shmela, L. Faivre, J. Weill, S. Odent, S. Azzi, P. Callier, J. Lucas, C. Dubourg, J. Andrieux, Y. Le Bouc, A. El-Osta, C. Gicquel.  Hum Mutat 2011;32:1171-82.
• Germline loss of function mutations of the oncogenic miR-17~92 cluster in Feingold Syndrome. L. de Pontual, E. Yao, P. Callier, L. Faivre, V. Drouin, S. Cariou, A. Van Haeringen, D. Geneviève, A. Goldenberg, M. Oufadem, S. Manouvrier, A. Munnich, M. Vekemans, S. Lyonnet, A. Henrion-Caude, A. Ventura, J. Amiel. Nat Genet 2011;43:1026-30.
• Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. P.B. Daniel, T. Morgan, Y. Alanay, E. Bijlsma, T.J. Cho, T. Cole, F. Collins, A. David, K. Devriendt, L. Faivre, S. Ikegawa, S. Jacquemont, M. Jesic, D. Krakow, D. Liebrecht, S. Maitz, S. Marlin, G. Morin, T. Nishikubo, G. Nishimura, T. Prescott, G. Scarano, Y. Shafeghati, F. Skovby, S. Tsutsumi, M. Whiteford, M. Zenker, S.P. Robertson.  Hum Mutat. 2011 Dec 20. doi: 10.1002/humu.22012.
• What can we learn from old microdeletion syndrome using Array-CGH screening ? A.L. Mosca, S. Bouquillon, L. Faivre, P. Callier, J. Andrieux, N. Marle, C. Bonnet, C.V. Delorme, M. Berri, G. Plessis, S. Manouvrier-Hanu, C. Thauvin-Robinet, E. Pipiras, A. Delahaye, M. Payet, C. Ragon, A. Masurel-Paulet, E. Questiaux, B. Benzacken, P. Jonveaux, F. Mugneret, M. Holder-Espinasse. Clin Genet 2011 Jul 1. doi: 10.1111/j.1399-0004.2011.01747.x.
• Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 by prenatal array-CGH. AL. Mosca, L. Pinson, J. Andrieux, S. Pigeonnat, N. Marle, T. Rousseau, S. Couvreur, C. Thauvin-Robinet, A. Masurel-Paulet, N. Laurent, P. Sagot, F. Mugneret, L. Faivre, P. Callier. Prenat Diag 2011 Jun 27. doi: 10.1002/pd.2793.
• Search for neutropenia should be part of the first screening in patients with poikiloderma. J. Piard, M. Holder, B. Aral, L. Faivre, P. Callier, N. Gigot, M. Payet, C. Ragon, M. Tardieu, E. Puzenat, A. Goldenberg, A. Toutain, J. Franques, K. MacDermot, D. Bessis, M. Rio, L. Van Maldergem, O. Boute, F. Huet, P. Vabres, C. Thauvin-Robinet.  Eur J Med Genet, 2011 Aug 18. [Epub ahead of print].
• Human sex determination depends on a highly conserved long-distance enhancer of SOX9 disrupted in disorders of sex development. S. Benko, CT. Gordon, D. Mallet, R. Sreenivasan, C. Thauvin-Robinet, A. Brendehaug, S. Thomas, O. Bruland, M. David, M. Nicolino, A. Labalme, D. Sanlaville, P. Callier, V. Malan, F. Huet, A. Molven, F. Digoud, A. Munnich, L. Faivre, J. Amiel, V. Harley, G. Houge, Y. Morel, S. Lyonnet.  J Med Genet, 2011;48:825-30.
• Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. E. Pasmant, A. Sabbagh, J. Masliah-Planchon, N. Ortonne, J. Laurendeau, L. Melin, S. Ferkal, L. Hernandez, K. Leroy, L. Valeyrie-Allanore, B. Parfait, D. Vidaud, I. Bièche, L. Lantieri, P. Wolkenstein, M. Vidaud; NF France Network (L. Faivre).  J Natl Cancer Inst. 2011 ;103:1713-22.
• Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. O. Gribouval, V. Morinière, A. Pawtowski, C. Arrondel, S.L. Sallinen, C. Saloranta, C. Clericuzio, G. Viot, J. Tantau, S. Blesson, S. Cloarec, M.C. Machet, D. Chitayat, C. Thauvin, N. Laurent, J.R. Sampson, J.A. Bernstein, A. Clemenson, F. Prieur, L. Daniel, A. Levy-Mozziconacci, K. Lachlan, J.L. Alessandri, F. Cartault, J.P. Rivière, N. Picard, C. Baumann, A.L. Delezoide, M.B. Ortega, N. Chassaing, P. Labrune, S. Yu, H. Firth, D. Wellesley, M. Bitzan, A. Alfares, N. Braverman, L. Krogh, J. Tolmie, H. Gaspar, B. Doray, S. Majore, D. Bonneau, S. Triau, C. Loirat, A. David, D. Bartholdi, A. Peleg, D. Brackman, R. Stone, R. Deberardinis, P. Corvol, A. Michaud, C. Antignac, M.C. Gubler. Hum Mutat 2011;33:316-26.
• Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. M.A. Salih, K.K. Abu-Amero, S. Alrasheed, I.A. Alorainy, L. Liu, J.A. McGrath, L. Van Maldergem, Y.H. Al-Faky, A.H. AlSuhaibani, D.T. Oystreck, T.M. Bosley.  BMC Med Genet 2011;12:31.
• Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple. P. Kuentz, A. Bailly, A.C. Faure, O. Blagosklonov, C. Amiot, J.L. Bresson, C. Roux.  Fertil Steril 2011;96:e35-8..
• IL-33 is expressed in human osteoblasts, but has no direct effect on bone remodeling. S. Saidi, F. Bouri, P. Lencel, L. Duplomb, M. Baud’huin, S. Delplace, D. Leterme, F. Miellot, D. Heymann, P. Hardouin, G. Palmer, D. Magne. Cytokine 2011;53:347-54.
• Glycosaminoglycans inhibit the adherence and the spreading of osteoclasts and their precursors: role in osteoclastogenesis and bone resorption. M. Baud’huin, C. Ruiz-Velasco, G. Jego, C. Charrier, N. Gasiunas, J. Gallagher, M. Maillasson, A. Naggi, M. Padrines, F. Redini, L. Duplomb, D. Heymann. Eur J Cell Biol 2011;90:49-57.
• Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. K. Snape, S. Hanks, E. Ruark, P. Barros-Núñez, A. Elliott, A. Murray, A.H. Lane, N. Shannon, P. Callier, D. Chitayat, J. Clayton-Smith, D.R. Fitzpatrick, D. Gisselsson, S. Jacquemont, K. Asakura-Hay, M.A. Micale, J. Tolmie, P.D. Turnpenny, M. Wright, J. Douglas, N. Rahman.  Nat Genet 2011;43:527-9.
• Eutherian mammals use diverse strategies to initiate X-chromosome inactivation during development. I. Okamoto, C. Patrat, D. Thépot, N. Peynot, P. Fauque, N. Daniel, P. Diabangouaya, J.P. Wolf, J.P. Renard, V. Duranthon, E. Heard. Nature 2011;472:370-4. Erratum in: Nature 2011;474:239-40.
• Propranolol for treatment of ulcerated infantile hemangiomas. M. Saint-Jean, C. Léauté-Labrèze, J. Mazereeuw-Hautier, N. Bodak, D. Hamel-Teillac, I. Kupfer-Bessaguet, J.P. Lacour, M. Naouri, P. Vabres, S. Hadj-Rabia, J.M. Nguyen, J.F. Stalder, S. Barbarot; Groupe de Recherche Clinique en Dermatologie Pédiatrique.  J Am Acad Dermatol 2011;64:827-32.
• Medial fronto-facial capillary malformations. L. Sillard, C. Léauté-Labreze, J. Mazereeuw-Hautier, V. Viseux, S. Barbarot, P. Vabres, D. Bessis, L. Martin, G. Lorette, F. Berthier, J.P. Lacour.  J Pediatr 2011;158:836-41.
• Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites. E. Goujon, K.M. Cordoro, M. Barat, T. Rousseau, P. Brouillard, M. Vikkula, I.J. Frieden, P. Vabres.  Pediatr Dermatol 2010 Dec 7. doi: 10.1111/j.1525-1470.2010.01216.x. [Epub ahead of print].

• Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. M.A. Tischfield, H.N Baris, C. Wu, G. Rudolph, L. Van Maldergem, W. He, W.M. Chan, C. Andrews, J.L. Demer, R.L. Robertson, D.A. Mackey, J.B. Ruddle, T.D. Bird, I. Gottlob, C. Pieh, E.I. Traboulsi, S.L. Pomeroy, D.G. Hunter, J.S Soul, A. Newlin, L.J. Sabol, E.J. Doherty, C.E. de Uzcátegui, N. de Uzcátegui, M.L. Collins, E.C. Sener, B. Wabbels, H. Hellebrand, T. Meitinger, Y. de Berardinis, A. Magli, C. Schiavi, M. Pastore-Trossello, F. Koc, A.M. Wong, A.V. Levin, M.T. Geraghty, M. Descartes, M. Flaherty, R.V. Jamieson, H.U. Møller, I. Meuthen, D.F. Callen, J. Kerwin, S. Lindsay, A. Meindl, M.L. Jr Gupta, D. Pellman, E.C. Engle. Cell 2010;140:74-87.
• A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic Alanyl tRNA Synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. P. Latour, C. Thauvin-Robinet, C. Baudelet-Méry, P. Soichot, V. Cusin, L. Faivre, M.C. Locatelli, M. Mayençon, A. Sarcey, E. Broussolle, W. Camu, A. David, R. Rousson.  Am J Hum Genet, 2010;86:77-82.
• Modulation of imprinted gene network in placenta results in normal development of in vitro manipulated mouse embryos. P. Fauque, M.A. Ripoche, J. Tost, L. Journot, F. Busato, F. Mondon, I. Gut, P. Jouannet, D. Vaiman, L. Dandolo, H. Jammes. Hum Mol Genet 2010; 19:1779-90.
• The burden of cardiovascular manifestations in men and women carrying a FBN1 mutation. CC. Boissonnas, H. El Abdalaou, J. Tost, V. Haeleween, P. Fauque, JM. Dupont, D. Vaiman, P. Jouannet, H. Jammes. Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men. Eur J Hum Genet 2010; 18:73-80.
• D. Detaint, L. Faivre, G. Collod-Beroud, A. Child, B.L. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Stheneur, D. Halliday, C. Beroud, C. Bonithon-Kopp,M. Claustres, H. Plauchu, P.N. Robinson, L. Adès, U. Francke, A. De Paepe, C. Boileau, G. Jondeau.  Eur Heart J 2010;31:2223-9.
• Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families. M. Willems, D. Geneviève, G. Borck, C. Baumann, G. Baujat, E. Bieth, P. Edery, E. Farra, M. Gérard, D. Héron, B. Leheup, M. Le Merrer, S. Lyonnet, D. Martin-Coignard, M. Mathieu, C. Thauvin-Robinet, A. Verloes, L. Colleaux, A. Munnich, V. Cormier-Daire.  J Med Genet 2010;47:797-802.
• Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. C. Bonnet, J. Andrieux, M. Béri-Dexheimer, B. Leheup, O. Boute, S. Manouvrier, B. Delobel, H. Copin, A. Receveur, M. Mathieu, G. Thiriez, C. Le Caignec, A. David, MC. de Blois, V. Malan, A. Philippe, V. Cormier-Daire, L. Colleaux, E. Flori, H. Dollfus, V. Pelletier, C. Thauvin-Robinet, A. Masurel-Paulet, L. Faivre, M. Tardieu, N. Bahi-Buisson, P. Callier, F. Mugneret, P. Edery, P. Jonveaux, D. Sanlaville.  J Med Genet 2010;47:377-84.
• Search for the best indicators for the presence of a VPS13B gene mutation from a series of 34 patients genotyped for suspected Cohen syndrome. S. El Chehadeh, B. Aral, N. Gigot, C. Thauvin-Robinet, MA. Delrue, D. Lacombe, A. David, L. Burglen, N. Philip, A. Moncla, V. Cormier-Daire, M. Rio, P. Edery, A. Verloes, D. Bonneau, A. Affenjar, A. Jacquette, D. Heron, E. Jeandidier, P. Sarda, L. Pinson, B. Doray, J. Vigneron, B. Leheup, AM. Frances-Guidet, Dr. Dienne, M. Holder, A. Masurel-Paulet, F. Huet, J.R. Teyssier, L. Faivre.  J Med Genet 2010;47:549-53.
• Towards a revised Ghent nosology for the Marfan syndrome. B.L. Loeys, H.C. Dietz, A.C. Braverman, B.L. Callewaert, J. De Backer, R.B. Devereux, Y. Hilhorst-Hofstee, G. Jondeau, L. Faivre, D.M. Milewicz, R.E. Pyeritz, P.D. Sponseller, P. Wordsworth, A.M. De Paepe.  J Med Genet 2010;47:476-85.
• Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in RANKL-induced osteoclastogenesis. M. Baud’huin, R. Renault, C. Charrier, A. Moreau, F. Gouin, L. Duplomb, D. Heymann.  J Pathol 2010;221:77-86.
• Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis.J. Mazereeuw-Hautier, P.H. Hoeger, S. Benlahrech, A. Ammour, P. Broue, J. Vial, G. Ohanessian, C. Léauté-Labrèze, M. Labenne, P. Vabres, J. Rössler, C. Bodemer.  J Pediatr 2010;157:340-2.
• Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009.  V. Oji, G. Tadini, M. Akiyama, C. Blanchet-Bardon, C. Bodemer, E. Bourrat, P. Coudiere, J.J. DiGiovanna, P. Elias, J. Fischer, P. Fleckmann, M. Gina, J. Harper, T. Hashimoto, I. Hausser, H.C. Hennies, D. Hohl, A. Hovnanian, A. Ishida-Yamamoto, W.K. Jacyk, S. Leachman, I. Leigh, J. Mazereeuw-Hautier, L. Milstone, F. Morice-Picard, A.S. Paller, G. Richard, M. Schmuth, H. Shimizu, E. Sprecher, M. van Steensel, A. Taieb, J.R. Toro, P. Vabres, A. Vahlquist, M. Williams, H. Traupe. J Am Acad Dermatol 2010;63:607-41.
• Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. M. Arslan-Kirchner, J. Epplen, L. Olivier-Faivre.  Eur J Hum Genet 2010 Sep;18(9). doi: 10.1038/ejhg.2010.42.
• Renal insufficiency, a frequent complication with age in adults in oral-facial-digital syndrome type I. S. Saal, L. Faivre, B. Aral, N. Gigot, A. Toutain, L. Van Maldergem, A. Destree, I. Maystadt, JP. Cosyns, PS. Jouk, B. Loeys, D. Chauveau, E. Bieth, V. Layet, M. Mathieu, J. Lespinasse, A. Teebi, B. Franco, E. Gautier, C. Binquet, A. Masurel-Paulet, C. Mousson, JB. Gouyon, F. Huet, C. Thauvin-Robinet.  Clin Genet 2010;77:258–65.
• Further delineation of 15q13.3 microdeletions. A. Masurel-Paulet, J. Andrieux, P. Callier, JM. Cuisset, C. Le Caignec, M. Holder, C. Thauvin-Robinet, B. Doray, E. Flori, MP. Alex-Cordier, M. Beri, O. Boute, B. Delobel, A. Dieux, L. Vallee, S. Jaillard, S. Odent, B. Isidor, C. Beneteau, J. Vigneron, F. Bilan, B. Gilbert-Dussardier, C. Dubourg, C. Bidon, JM. Pinoit, F. Huet, F. Mugneret, B. Aral, P. Jonveaux, D. Sanlaville, L. Faivre.  Clin Genet 2010;78:149-61.
• NBS programs: limits and negative consequences ? The example of cystic fibrosis. C. Thauvin-Robinet, A. Munck, F. Huet, C. Binquet, E. Girodon.  J Epidemiol Common Health 2010;64:937-8.
• Aarskog-Scott Syndrome: Clinical update and report of 9 novel mutations of the FGD1 gene. A. Orrico, L. Galli, L. Faivre, J. Clayton-smith, S. Azzarello-Burri, JM. Hertz, S. Jacquemont, R. Taurisano, I. Arroyo Carrera, E. Tarantino, K. Devriendt, D. Melis, T. Thelle, V. Sorrentino.  Am J Med Genet A 2010;152:313-8.
• Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome. A.L. Mosca, P. Callier, A. Masurel-Paulet, C. Thauvin-Robinet, N. Marle, M. Nouchy, F. Huet, D. Dipanda, A De Paepe, P. Coucke, F. Mugneret, L. Faivre.  Am J Med Genet 2010;152A:1314-7.
• E. Goujon, F. Beer, S. Fraitag, A. Hovnanian, P. Vabres. ‘Matchstick’ eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome. J Eur Acad Dermatol Venereol 2010;24:740-1.
• De novo interstitial 15q deletion identified by FBN1 MLPA and refined by array-CGH in a female teenager with an incomplete Marfan syndrome. L. Faivre, P. Khau Van Kien, P. Callier, N. Ruiz-Pallares, C. Baudoin, A. Plancke, JE. Wolf, C. Thauvin-Robinet, A. Masurel-Paulet, F. Coron, G. Jondeau, C. Boileau, F. Huet, M. Claustres, F. Mugneret.  Eur J Med Genet 2010;53:208-12.
• Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites. E. Goujon, K.M. Cordoro, M. Barat, T. Rousseau, P. Brouillard, M. Vikkula, I.J. Frieden, P. Vabres.  Pediatr Dermatol 2010 Dec 7. doi: 10.1111/j.1525-1470.2010.01216.x.
• Les tests génétiques présymptomatiques chez le mineur : Enquête auprès Généticiens Français et position du Groupe Français de Génétique Prédictive. L. Joly, C. Thauvin-Robinet, F. Huet, JM. Pinoit, A. Contrain, A. Masurel-Paulet, C. Cassini, F. Coron, B. Bonin, F. Levy, G. Lesca, C. Goizet, P. Charron, P. Bouvagnet, C. Colas, O. Caron, I. François, JP. Pierron, L. Tourtelier, A. Nivelon, A. Greffier, S. Nezelof, E. Gautier, M. Gargiulo, D. Heron, A. Dürr, L. Faivre, pour le Groupe de Génétique Prédictive. Arch Fr Pediatr 2010;17:1000-7.
• Assisted Reproductive Technologies Strongly Impact the Placental Transcriptome. P. Fauque P, F. Mondon, F. Letourneur, M.A. Ripoche, S. Barbaux, L. Dandolo, C. Patrat, J.P. Wolf, P. Jouannet, H. Jammes, D. Vaiman.  PloS One 2010;5:e9218.
• Impact of maternal age distribution on the expected live birth prevalence of Down’s syndrome in the metropolitan France between 1965 and 2008. T. Rousseau, C. Ferdynus , C. Thauvin-Robinet , J.B. Gouyon, P. Sagot P.  J Gynecol Obstet Biol Reprod (Paris) 2010;39:284-9.
• Variations in the prevalence of Down’s syndrome in the French population between 1978 and 2005.  T. Rousseau, E. Amar, C. Ferdynus, C. Thauvin-Robinet, JB. Gouyon,P. Sagot P. Gynecol Obstet Biol Reprod (Paris) 2010;39:290-6.
• Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. D. Detaint, Aegerter P, Tubach F, Hoffman I, Plauchu H, Dulac Y, Faivre LO, Delrue MA, Collignon P, Odent S, Tchitchinadze M, Bouffard C, Arnoult F, Gautier M, Boileau C, Jondeau G.  Arch Cardiovasc Dis 2010;103:317-25.

• Mutations in PYCR1 cause cutis laxa with progeroid features. B. Reversade, N. Escande-Beillard, A. Dimopoulou, B. Fischer, S.C. Chng, Y. Li, M. Shboul, P.Y. Tham, H. Kayserili, L. Al-Gazali, M. Shahwan, F. Brancati, H. Lee, B.D. O’Connor, M. Schmidt-von Kegler, B. Merriman, S.F. Nelson, A. Masri, F. Alkazaleh, D. Guerra, P. Ferrari, A. Nanda, A. Rajab, D. Markie, M. Gray, J. Nelson, A. Grix, A. Sommer, R. Savarirayan, A.R. Janecke, E. Steichen, D. Sillence, I. Hausser, B. Budde, G. Nürnberg, P. Nürnberg, P. Seemann, D. Kunkel, G. Zambruno, B. Dallapiccola, M. Schuelke, S. Robertson, H. Hamamy, B. Wollnik, L. Van Maldergem, S. Mundlos, U. Kornak. Nat Genet 2009;41:1016-21.
• Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT; Fabry Outcome Survey investigators (L. Van Maldergem). Lancet 2009;374:1986-96.
• Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. D. Attias, C. Stheneur, C. Roy, G. Collod-Berroud, D. Detaint, L. Faivre, MA. Delrue, L. Cohen, C. Francannet, C. Beroud, M. Claustres, F. Iserin, P. Khau Van Kien, D. Lacombe, M. Le Merrer, S. Lyonnet, S. Odent, H. Plauchu, M. Rio, A. Rossi, D. Sidi, PG. Steg, P. Ravaud, C. Boileau, G. Jondeau.  Circulation 2009;120:2541-9.
• Recurrent rearrangements in synaptic and neurodevelopmental genes support the existence of shared biological pathways between Schizophrenia, autism and MR. A. Guilmatre, C. Dubourg, A.L. Mosca, S. Legallic, A. Goldenberg, V. Drouin-Garraud, V. Layet, A. Rosier, S. Briault, F. Bonnet-Brilhault, F. Laumonnier, S. Odent, G. Le Vacon, G. Joly-Helas, V. David, C. Bendavid, JM. Pinoit, C. Henry, C. Impallomeni, E. Germano, G. Tortorella, G. Di Rosa, C. Barthelemy, C. Andres, L. Faivre, T. Frébourg, P. Saugier Veber, D. Campion. Arch Gen Psychiatr 2009;66;947-956.
• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. K.L.M. Coene, R. Roepman, D. Doherty, B. Afroze, H. Kroes, S.J.F. Letteboer, N. Hock Lock, B. Budny, E. van Wijk, M. Azhimi, C. Thauvin-Robinet, J. Veltman, M. Boink, T. Kleefstra, F. Cremers, H. van Bokhoven, A.P.M. de Brouwer.  Am J Hum Genet 2009;85:465-81.
• Mutations of FHL1 gene cause Emery-Dreifuss muscular dystrophy. L Gueneau, AT Bertrand, JP Jais, MA Salih, T Stojkovic, M Wehnert, S Saitoh, A Verschueren, C Tranchant, M Beuvin, E Lacene, NB Romero, S Heath, D Zelenika, T Voit, B Eymard, R Ben Yaou, G Bonne. Am J Hum Genet 2009;85 :1-16
• Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. A. Sabbagh, E. Pasmant, I. Laurendeau, B. Parfait, S. Barbarot, B. Guillot, P. Combemale, S. Ferkal, M. Vidaud, P. Aubourg, D. Vidaud, P. Wolkenstein; members of the NF France Network (L. Faivre, C. Thauvin). Hum Mol Genet 2009;18:2768-78.
• Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. V. Hucthagowder, E. Morava, U. Kornak, D.J. Lefeber, B. Fischer, A. Dimopoulou, A. Aldinger, J. Choi, E.C. Davis, D.N. Abuelo, M. Adamowicz, J. Al-Aama, L. Basel-Vanagaite, B. Fernandez, M.T. Greally, G. Gillessen-Kaesbach, H. Kayserili, E. Lemyre, M. Tekin, S. Türkmen, B. Tuysuz, B. Yüksel-Konuk, S. Mundlos, L. Van Maldergem, R.A. Wevers, Z. Urban.  Hum Mol Genet 2009;18:2149-65.
• GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. W.A. Paznekas, B. Karczeski, S. Vermeer, R.B. Lowry, M. Delatycki, L. Faivre, P.A. Koivisto, L. Van Maldergem, S.A Boyadjiev, J.N. Bodurtha, E.W. Jabs. Hum Mutat 2009;30:724-33.
• The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. MY. Frédéric, C. Monino, C. Marschall, D. Hamroun, L. Faivre, G. Jondeau, HG. Klein, L. Neumann, E. Gautier, C. Binquet, C. Maslen, M. Godfrey, P. Gupta, D. Milewicz, C. Boileau, M. Claustres, C. Béroud, G. Collod-Béroud.  Hum Mutat 2009; 30:181-90.
• Genomic deletions of the OFD1 gene account for 23 % of Oral-Facial-Digital type 1 syndrome after negative DNA sequencing. C. Thauvin-Robinet, B. Franco, P. Saugier-Veber, B. Aral, N. Gigot, A. Donzel, L. Van Maldergem, E. Bieth, V. Layet, M. Mathieu, A. Teebi, J. Lespinasse, P. Callier, F. Mugneret, A. Masurel-Paulet, E. Gautier, F. Huet, J.R. Teyssier, M. Tosi, T. Frebourg, L. Faivre.  Hum Mut 2009;30:E320-9.
• GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the Oculodentodigital dysplasia. WA. Paznekas, B. Karczeski, S. Vermeer, RB. Lowry, M. Delatycki, L. Faivre, PA. Koivisto, L. Van Maldergen, SA. Boyadjiev, JN. Bodurtha, EW. Jabs. Hum Mut 2009;30:724-33.
• The dual role of IL-6-type cytokines on bone remodeling and bone tumors. F. Blanchard, L. Duplomb, M. Baud’huin, B. Brounais. Cytokine Growth Factor Rev 2009;20:19-28.
• Collaborating group on R117H, E. Girodon. A very low penetrance of R117H;7T for cystic fibrosis and CFTR-related disorders; implications for genetic counselling and screening purposes. C. Thauvin-Robinet, A. Munck, F. Huet, E. Génin, G. Bellis, E. Gautier, MP. Audrézet, C. Férec, G. Lalau, MD. Georges, M. Claustres, T. Bienvenu, B. Gérard, P. Boisseau, F. Cabet-Bey, D. Feldmann, C. Clavel, E. Bieth, A. Iron, B. Simon-Boy, C. Costa, R. Medina, J. Leclerc, D. Hubert, R. Nové-Josserand, I. Sermet-Gaudelus, G. Rault, J. Flori, S. Leroy, N. Wizla, G. Bellon, A. Haloun, S. Perez-Martin, G. d’Acremont, H. Corvol, A. Clément, E. Houssin, C. Binquet, C. Bonithon-Kopp, C. Alberti-Boulmé, MA. Morris, L. Faivre, M. Goossens, M. Roussey, J Med Genet 2009;46:752-8.
• Factor VIII/von Willebrand Factor complex inhibits RANKL-induced osteoclastogenesis and controls cell survival. M. Baud’huin, L. Duplomb, C. Charrier, M. Maillasson, M. Fouassier, D. Heymann.  J Biol Chem 2009;284:31704-13.
• Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. L. Faivre, A. Masurel-Paulet, G. Collod-Beroud, BL. Callewaert, AH. Child, C. Stheneur, C. Binquet, E. Gautier, B. Chevallier, F. Huet, BL. Loeys, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, M. Grasso, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, PN. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau. Pediatrics 2009; 123:391-8.
• Bilateral nodular periventricular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. G. Sole, I. Coupry, C. Rooryck, E. Guérineau, F. Martins, S. Devés, C. Hubert, N. Souakri, O. Boute, C. Marchal, L. Faivre, E. Landré, S. Debruxelles, A. Dieux-Coesler, C. Boulay, S. Chassagnon, V. Michel, MC. Routon, A. Toutain, N. Philip, D. Lacombe, L. Villard, B. Arveiler, C. Goizet.  J Neurol Neurosurg Psychiatry 2009;80:1394-8.
• C Chalas, H. El abdalaou, J. Tost, V. Haeleween, P. Fauque, J.M. Dupont, D. Vaiman, P.  Jouannet, H. Jammes. Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men. Eur J Hum Genet. 2009; 8.
• Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. L. Faivre, G. Collod-Beroud, B. Callewaert, A. Child, C. Binquet, E. Gautier, BL. Loeys, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Stheneur, A. Kiotsekoglou, P. Comeglio, N. Marziliano, JE. Wolf, O. Bouchot, P. Khau-Van-Kien, C. Beroud, M. Claustres, C. Bonithon-Kopp, PN. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, C. Boileau.  Eur J Hum Genet 2009;17:491-501.
• Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. C. Stheneur, G. Collod-Béroud, L. Faivre, JF. Buyck, L. Gouya, JM. Le Parc, B. Moura, C. Muti, B. Grandchamp, G. Sultan, M. Claustres, P. Aegerter, B. Chevallier, G. Jondeau, C. Boileau.  Eur J Hum Genet 2009;17:1121-8.
• Kidney transplantation in patients with Fabry disease. M. Cybulla, K.N. Walter, A. Schwarting, R. Divito, S. Feriozzi, G. Sunder-Plassmann; European FOS Investigators Group (L. Van Maldergem). Transpl Int 2009;22:475-81.
• Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. A.L. Mosca, P. Callier, L. Faivre, N. Marle, N. Metjean, C. Thauvin-Robinet, A. Masurel-Paulet, N. Madinier, C. Durand, G. Couillault, S. Ragot, F. Huet, J.R. Teyssier, F. Mugneret.  Am J Med Genet 2009;149A:475-81.
• Pathogenic FBN1 mutations in 146 adults not meeting diagnostic criteria for Marfan syndrome: Further delineation of Type 1 fibrillinopathy and focus on patients with an isolated major criterion. L. Faivre, G. Collod-Beroud, B. Callewaert, A. Child, BL. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, C. Beroud, C. Bonithon-Kopp, M. Claustres, PN. Robinson, L. Ades, J. De Baecker, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau. Am J Med Genet 2009;149:854-60.
• Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia. P. Callier, L. Faivre, N. Marle, C. Thauvin-Robinet, J. Guy, A.L. Mosca, P. D’Athis, A. Masurel-Paulet, D. Assous, J.R. Teyssier, F. Huet, F. Mugneret.  Am J Med Genet A 2009;149:1323-6.
• Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH. A. Masurel-Paulet, P. Callier, C. Thauvin-Robinet, M. Chouchane, N. Mejean, N. Marle, A.L. Mosca, D. Ben Salem, M. Giroud, L. Guibaud, F. Huet, F. Mugneret, L. Faivre. Am J Med Genet A 2009;149:1504-10.
• Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene. C. Thauvin-Robinet, P. Callier, B. Franco, B. Zuffardi O, Payet M, B. Aral, N. Gigot, A. Donzel, A.L. Mosca-Boidron, A. Masurel-Paulet, F. Huet, J.R. Teyssier, F. Mugneret, L. Faivre.  Am J Med Genet A 2009;149:1846-9.
• L. Faivre, A. Masurel-Paulet, P. Callier, N. Mejean, S. Gay, M. Grimaldi, F. Mugneret, F. Huet, C. Thauvin-Robinet. Vertebral defects as an unusual mode of presentation of 22q11.2 deletion. Am J Med Genet 2009;149A:2865-6.
• Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. B. Friguls, W. Coroleu, R. del Alcazar, P. Hilbert, L. Van Maldergem, G. Pintos-Morell.  Eur J Med Genet 2009;52:14-6.
• Tubulopathy and pancytopenia with normal pancreatic function: a variant of Pearson syndrome. A. Atale, P. Bonneau-Amati, A. Rötig, A. Fischer, S. Perez-Martin, P. de Lonlay, P. Niaudet, L. De Parscau, C. Mousson, C. Thauvin-Robinet, A. Munnich, F. Huet, L. Faivre.  Eur J Med Genet 2009;52:23-6.
• Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation. E. Gandjbakhch, V. Fressart, G. Bertaux, L. Faivre, F. Simon, R. Frank, G. Fontaine, E. Villard, C. Coirault, B. Hainque, P. Charron. Europace 2009;11:379-81.
• Contribution of tridimensional computed tomography in prenatal diagnosis of lethal Caffey disease. V. Darmency, C. Thauvin-Robinet, T. Rousseau, N. Mejean, S. Charra, F. Coron, C. Cassini, F. Huet, M. Le Merrer, V. Cormier-Daire, N. Laurent, P. Sagot, L. Faivre. Prenat Diagn 2009;29:892-4.
• Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. P. Callier, L. Faivre, S. Pigeonnat, B. Quilichini, N. Marle, C. Thauvin-Robinet, A.L. Mosca, A. Masurel-Paulet, T. Rousseau, P. Sagot, N. Laurent, F. Mugneret. Prenat Diagn 2009;29:1002-5.
• Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. JB. Rivière, P. Dion, M. Shekarabi, N. Girard, L. Faivre, RG. Lafrenière, M. Samuel, GA. Rouleau. . Med Sci (Paris) 2009;25:235-8.
• Fetal Sodium Valproate exposure causes Baller-Gerold syndrome phenotype: Both phenotypes in the same family. ÖMA. Özdemir, İ. Kılıç, T. Özsarı, L. Faivre, B. Aral, B. Alper Kılıç, D. Gürses, C. Nur Semerci.  Turkish J Pediatr 2009, 51: 631-6.

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. U. Kornak, E. Reynders, A. Dimopoulou, J. van Reeuwijk, B. Fischer, A. Rajab, B. Budde, P. Nürnberg, F. Foulquier; ARCL Debré-type Study Group, D. Lefeber, Z. Urban, S. Gruenewald, W. Annaert, H.G. Brunner, H. van Bokhoven, R. Wevers, E. Morava, G. Matthijs, L. Van Maldergem, S. Mundlos.  Nat Genet 2008;40:32-4.
• Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type-II. M. Shekarabi, N. Girard, JB. Rivière, P. Dion, M. Houle, A. Toulouse, RG. Lafrenière, F. Vercauteren, P. Hince, J. Laganiere, D. Rochefort, L. Faivre, M. Samuels, GA. Rouleau.  JCI 2008;118:2496-505.
• A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. K.A. Fantauzzo, M. Tadin-Strapps, Y. You, S.E. Mentzer, F.A. Baumeister, S. Cianfarani, L. Van Maldergem, D. Warburton, J.P. Sundberg, A.M. Christiano.  Hum Mol Genet 2008;17:3539-51. 
• Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. L. Van Maldergem, M. Yuksel-Apak, H. Kayserili, E. Seemanova, S. Giurgea, L. Basel-Vanagaite, E. Leao-Teles, J. Vigneron, M. Foulon, M. Greally, J. Jaeken, S. Mundlos, W.B. Dobyns.  Neurology 2008;71:1602-8. 
• A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. M.Y. Frederic, D. Hamroun, L. Faivre, C. Boileau, G. Jondeau, M. Claustres, C. Beroud, G. Collod-Béroud. Hum Mutat 2008;29:33-8.
• Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. C. Stheneur, G. Collod-Béroud, L. Faivre, L. Gouya, G. Sultan, J.M Le Parc, B. Moura, D. Attias, C. Muti, M. Sznajder, M. Claustres, C. Junien, C. Baumann, V. Cormier-Daire, M. Rio, S. Lyonnet, H. Plauchu, D. Lacombe, B. Chevallier, G. Jondeau, C. Boileau.  Hum Mut 2008;29:E284-95.
• Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. M. Kroos, R.J. Pomponio, L. van Vliet, R.E. Palmer, M. Phipps, R. Van der Helm, D. Halley, A. Reuser; GAA Database Consortium (L. Van Maldergem).  Hum Mutat 2008;29:E13-26.
• Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies : an international study of 1009 probands. L. Faivre, G. Collod-Beroud, A. Child, B. Callewaert, BL. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Stheneur, A. Kiotsekoglou, P. Comeglio, N. Marziliano, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, H. Plauchu, PN. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau.  J Med Genet 2008;45:384-90.
• The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. C. Thauvin-Robinet, E. Roze, G. Couvreur, M.H. Horellou, F. Sédel, D. Grabli, G. Bruneteau, C. Tonneti, A. Masurel-Paulet, D. Perrenou, T. Moreau, M. Giroud, H. Ogier de Baulny, S. Giraudier, L. Faivre. J Neurol Neurosurg Psychiatry 2008;79:725-8.
• Interleukin-6 inhibits receptor activator of nuclear factor kappaB ligand-induced osteoclastogenesis by diverting cells into the macrophage lineage: key role of Serine727 phosphorylation of signal transducer and activator of transcription 3.  L. Duplomb, M. Baud’huin, C. Charrier, M. Berreur, V. Trichet, F. Blanchard, D Heymann D. Endocrinology 2008; 49:3688-97.
• Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. F.H. Menko, C.M. Kneepkens, N. de Leeuw, E.A. Peeters, L. Van Maldergem, E.J. Kamsteeg, R. Davidson, L. Rozendaal, C.A. Lasham, C.M. Peeters-Scholte, M.C. Jansweijer, Y. Hilhorst-Hofstee, J.J. Gille, Y.M. Heins, A.W. Nieuwint, E.A. Sistermans.  Clin Genet. 2008;74:145-54.
• Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. H.U. Shirwalkar, Z.M. Patel, J. Magre, P. Hilbert, L. Van Maldergem, R.R. Mukhopadhyay, A. Maitra. J Inherit Metab Dis 2008 Aug 12. 
• Severe neonatal non-dystrophic myotonia secondary to a new mutation of the voltage-gated sodium channel (SCN4A) gene. S. Gay, D. Dupuis, L. Faivre, A. Masurel-Paulet, M. Labenne, M. Colombani, P. Soichot, F. Huet, B. Hainque, D. Sternberg, B. Fontaine, JB. Gouyon, C. Thauvin-Robinet.  Am J Med Genet A 2008;146:380-3.
• Array-CGH in a series of 30 patients with mental retardation, dysmorphic features and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlaping with the Goldenhar syndrome. P. Callier, L. Faivre, C. Thauvin-Robinet, N. Marle, A.L. Mosca, P. D’Athis, J. Guy, A. Masurel-Paulet, L. Joly, S. Guiraud, J.R. Teyssier, F. Huet, F. Mugneret.  Am J Med Genet A 2008;146:2109-15.
• Molecular study of 33 families with Fraser syndrome new data and mutation review. M.M. van Haelst, M. Maiburg, G. Baujat, S. Jadeja, E. Monti, E. Bland, K. Pearce, Fraser Syndrome Collaboration Group (C. Thauvin), R.C. Hennekam, P.J. Scambler. Am J Med Genet A 2008;146A:2252-7
• Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility. A. Lebbar, P. Callier, F. Baverel, N. Marle, C. Patrat, D. Le Tessier, F. Mugneret, J.M. Dupont. Am J Med Genet A 2008;146A:2651-6.
• Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. S. Sharma, K.P. Burdon, A. Dave, R.V. Jamieson, Y. Yaron, F. Billson, L. Van Maldergem, B. Lorenz, J. Gécz, J.E. Craig.  Mol Vis 2008;14:1856-64.
• Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia. G. Quenum-Miraillet, V. Malan, J. Martinovic, F. Encha-Razavi, B. Aral, I. Texier, J.P. Bonnefont, M. Vekemans, N. Morichon-Delvallez.  Prenat Diagn 2008;28:69-71.