Communications at international congresses on the initiative of the Genetics of development disorders team (GAD) EA 4271

2016

  • Bruel AL, Aktas I, Basilicala M, Van der Burgt I, Morton J, El Chehadeh-Djebbar S, Hoischen A, Gilissen C, Vissers L, Pfundt R, Thauvin-Robinet C, Brunner H, Rivière J-B, Faivre L, Akthar A, Thevenon J. De novo mutations MSL3 gene cause a new recognizable syndrome (ESHG - Barcelona, Mai 2016)
  • Thevenon J, Kuentz P, Bruel A, Jouan T, Poe C, Chevarin M, Lehalle D, Masurel-Paulet A, Jean-Marçais N, El Chehadeh-Djebbar S, Philippe C, Lambert L, Roubertie A, Milh M, Jaquette A, Mignot C, Héron D, Geneviève D, Willems M, Delobel B, Prieur F, Gérard M, Vabres P, Duffourd Y, Rivière J-B, Thauvin-Robinet C, Faivre L. The « genotype-first » approach and international matchmaking: An efficient approach for disease-causing gene identification in undiagnosed disorders with developmental anomalies. (ESHG - Barcelona, Mai 2016)
  • Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Milh M, Auvin S, Mireskandari K, Rivière J-B, Faivre L, Thevenon J. Autosomal recessive mutations of the neuron specific βut subunit of clathrin-associated adaptor protein complex 3 (AP3B2) cause an early onset epileptic encephalopathy with optic atrophy. (ESHG - Barcelona, Mai 2016)
  • T. Heuyer, C. Vicard, A. Lapointe, L. Demougeot, D. Lacombe, N. Bahi-Buisson, S. Sigaudy, C.Thauvin-Robinet, L. Faivre, A forum for French-speaking patients with developmental diseases with no diagnosis or an ultra rare genetic diagnosis. (ESHG - Barcelona, Mai 2016)
  • J. Thevenon, S. Nambot, P. Kuentz, Y. Duffourd, S. El Chehadeh-Djebbar, D. Lehalle, N. Jean-Marçais, A. Masurel-Paulet, P. Callier, N. Marle, A. Mosca-Boidron, C. Poé, T. Jouan, M. Chevarin, N. Gigot, A. Bruel, M. Lefebvre, J. Saint-Onge, E. Tisserant, J. Deleuze, J. Rivière, L. Faivre, C.Thauvin-Robinet, Clinical whole-exome sequencing for the diagnosis of rare disorders with multiple congenital anomalies: feedback on 400 consecutive tests. (ESHG - Barcelona, Mai 2016)
  • S. El Chehadeh,, W. S. Kerstjens-Frederikse, J. Thevenon,, P. Kuentz, A. Bruel, C. Thauvin-Robinet, C. Bensignor, H. Dollfus, V. Laugel, J. Riviere, Y. Duffourd, C. Bonnet, M. Robert, R. Isaico, M. Straub, C. Creuzot-Garcher, P. Calvas, N. Chassaing, C. Gilissen, R. Pfundt, J. S. Klein Wassink-Ruiter, L. Faivre. Dominant mutations in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. (ESHG - Barcelona, Mai 2016)
  • C. Simao de Souza, J. Thevenon, Y. Duffourd, P. Kuentz, C. Poe, A. Masurel-Paulet, J. Pinoit, L. Faivre. Double heterozygous missense variants in CHRNA7 in a boy with autism spectrum disorder. (ESHG - Barcelona, Mai 2016)
  • C. Saunier, S. Støve, B. Popp, B. Gérard, M. Blenski, N. AhMew, C. de Bie, P. Goldenberg, B. Isidor, B. Keren, B. Leheup, L. Lampert, C. Mignot, K. Tezcan, G. Mancini, C. Nava, M. Wasserstein, A. Bruel, J. Thevenon, A. Masurel, Y. Duffourd, P. Kuentz, F. Huet, J. Rivière, M. Slegtenhorst, L. Faivre, A. Piton, A. Reis, T. Arnesen, C.Thauvin-Robinet, C. Zweier. Expanding the phenotype associated with Naa10 related N-terminal acetylation deficiency. (ESHG - Barcelona, Mai 2016)
  • D. Lehalle, P. Kuentz, J. Thevenon, D. Bonneau, M. Fradin, M. Gérard, A. Goldenberg, T. Martin-Denavit, A. Masurel,, M. Rio, S. Whalen, B. Bessière, E. Bieth, V. Cormier-Daire, F. Demurger, P. Edery, D. Geneviève, S. Julia, D. Lacombe, S. Marlin, S. Odent, J. Plaisancié, A. Putoux, C.Thauvin, L. Faivre, P. Callier. Input of exome sequencing in clinical and molecular characterization of patients referred for Fronto-Nasal Dysplasia. (ESHG - Barcelona, Mai 2016)
  • L. Boidron, A. Charpin, R. Tfifha, E. Gautier, C. Binquet, H. Devilliers, A. Soudry, A. Mosca-Boidron, N. Jean, B. Mangola, J. Eicher, L. Faivre. Management of emergency care for patients with FBN1 gene mutation: epidemiological study. (ESHG - Barcelona, Mai 2016)
  • A. Sorlin, A. Maruani, Y. Duffourd, P. Kuentz, M. Chevarin, J. St-Onge, T. Jouan, C. Thauvin-Robinet, L. Faivre, J. Rivière, P. Vabres. Mosaic mutation of KITLG in a non-progressive, congenital, linear nevoid hyperpigmentation. ESHG (Barcelone, mai 2016)
  • N. Jean-Marçais,, K. Tatton-Brown, D. Héron, E. Backer, The Deciphering Developmental Disorders Study, J. Donadieu, J. Rivière, D. Lehalle, A. Bruel, Y. Duffourd, J. Thevenon, L. Faivre, C. Thauvin. PACS2 de novo missense mutation in two patients presenting with intellectual disability and recognizable facial dysmorphism. (ESHG - Barcelona, Mai 2016)
  • N. Marle, A. Mosca-Boidron, C .Thauvin, T. Rousseau, D. Lehalle, J. Thevenon, N. Jean-Marçais, F. Harizay, N. Laurent, L. Faivre, P. Callier. Prenatal diagnosis of trisomy 2 mosaicism: discrepancy between FISH study on uncultured amniocytes and karyotyping of cultured amniocytes. (ESHG - Barcelona, Mai 2016)
  • A-L Mosca-Boidron,, H. Poquet, M. Willems, J. Thevenon,, C. Redin, C.Thauvin, Y. Duffourd, S. Lumbroso, B. Gérard, J. Mandel, F. Amsellem, A. Beggiato, R. Delorme, N. Marle, P. Callier, J. Rivière, P. Kuentz, A. Piton, L. Faivre. The power of New Generation Sequencing in identifying mutations in non-specific ASD-ID phenotypes: the example of SHANK3. (ESHG - Barcelona, Mai 2016)
  • G. Baujat, C. Michot, Q. Siour, M. Parisot, C. Bole-Feysot, C. Fourrage, P. Nitschke, H. Kayirangwa, K. Le Quan Sang, A. Dieux-Coeslier, G. Mortier, P. Simsek-Kiper, K. Chandler, A. David, C. Do Ngoc Thanh, C. Francannet, D. Gaillard, A. Goldenberg, A. Megarbané, S. Sigaudy, C.Thauvin, T. Attié-Bittach, S. Saunier, Skeletal Ciliopathies Consortium, C. Huber, V. Cormier-Daire. Asphyxiating Thoracic Dysplasia (ATD) and Short Rib-Polydactyly syndrome type III (SRPIII): clinical and molecular review of 71 families. (ESHG - Barcelona, Mai 2016)
  • A. Baurand, S. Falcon Eicher, G. Laurent, E. Villain, C. Bonnet, C. Thauvin, C. Jacquot, V. Probst, J. Gourraud, S. Schmitt, S. Bézieau, M. Giraud, S. Dumont, A. Burguet, F. Kyndt, L. Olivier-Faivre. Incomplete Timothy syndrome secondary to a mosaic mutation of the ne diagnosed using next-generation sequencing. (ESHG - Barcelona, Mai 2016)
  • C. Thauvin-Robinet, L. Olivier-Faivre, L. Demougeot, M. Reymond, T. Attié-Bitach, L. Ben Slama, T. Billette de Villemeur, O. Boesplug, D. Bonneau, J. Bonnefont, L. Burglen, P. Charles, R. Delorme, C. Depienne, M. Doco-Fenzy, M. Dupuy, P. Edery, C. Francannet, D. Geneviève, D. Germanaud, G. Gyot, A. Hugon, D. Lacombe, A. Lapointe, S. Lyonnet, S. Manouvrier, I. Marey, C. Mignot, M. Moutard, S. Odent, L. Pasquier, S. Passemard, R. Percheron, N. Philip, M. Poher, M. Rio, M. Rossi, D. Sanlaville, P. Sarda, M. Tauber, J. Thevenon, A. Toutain, L. Vallée, A. Van de Velde, A. Verloes, C. Vernin, DéfiScience Competence Centres, AnDDI-Rares co-coordinators, V. des Portes, D. Héron. Developmental abnormalities and intellectual disability: an original French organisation in two national networks, AnDDI-Rares and DéfiScience. (ESHG - Barcelona, Mai 2016)
  • B. Demeer, A. Dadban, P. Vabres, A. Varenterghem, J. Thevenon, D. Bremond-Gignac, J. Rivière, C.Thauvin-Robinet, L. Olivier-Faivre. Reverse phenotyping of a patient with CRIPT gene mutation and further delineation of the associated phenotype. (ESHG - Barcelona, Mai 2016)
  • A.-L. Bruel, B. Franco, Y. Duffourd, J. Thevenon, L. Jego, E. Lopez, J.-F. Deleuze, D. Doummar, R.-H. Giles, C.-A. Johnson, M.-A. Huynen, V. Chevrier, L. Burglen, M. Morleo, I. Desguerres, G. Pierquin, B. Doray, B. Gilbert-Dussardier, B. Reversade, E. Steichen-Gersdorf, C. Baumann,  I. Panigrahi,  A. Fargeot-Espaliat,  A. Dieux, A. David, A. Goldenberg, E. Bonger, D. Gaillard, J. Argente, B. Aral, N. Gigot, J. St-Onge, D. Birnbaum, S.-R. Phadke, V. Cormier-Daire, T. Eguether, G.-J. Pazour, V. Herranz-Pérez, J.-S. Lee, L. Pasquier, P. Loget, S. Saunier, A. Mégarbané, O. Rosnet, M.-R. Leroux,  J.-B. Wallingford, O.-E. Blacque, M.-V. Nachury, T. Attie-Bitach, J.-B. Rivière, L. Faivre, C. Thauvin-Robinet. Identification and characterization of 5 new genes implicated in Oral-Facial-Digital syndromes (OFDS) (CILIA, 2016).
  • Thevenon J, Kuentz P, Nambot S, Bruel A-L, Lehalle D, Assoum M, Jean-Marçais N, Masurel-Paulet A, Callier P, Mosca-Boidron A-L, El Chehadeh S, Poé C, Jouan T, Chevarin M, Gigot N, Rivière J-B, Lefebvre M, Tisserant E, Deleuze J-F, Duffourd Y, Faivre L, Thauvin-Robinet C. Reanalyzing yearly whole-exome sequencing results: An 8% increase in diagnostic yield (ASHG – Vancouver Octobre 2016)
  • Lehalle D, Avila M, Duplomb-Jego L, Duffourd Y, Kuentz P, St-Onge J, Jouan T, Thevenon J, Thauvin-Robinet C, Vabres P, Faivre L, Betschinger J, Rivière J-B. A genotype-first approach identifies gain-of-function mutations of TFE3 in a novel syndrome with intellectual disability, seizures, facial dysmorphism, short stature and obesity. (ASHG – Vancouver Octobre 2016)
  • Bruel A-L, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze J, Giles R, Johnson C, Huynen M, Burglen L, Morleo M, Pierquin G, Doray B, Panigrahi I, Gaillard D, Aral B, Phadke S, Pasquier L, Saunier S, Mégarbané A, Rosnet O, Leroux M, Wallingford J, Blacque O, Nachury M, Attie-Bittach T, Rivière J-B, Faivre L, Thauvin-Robinet C. Identification of 5 new genes and characterization of 3 ciliary modules implicated in oro-facial-digital syndromes. (ASHG – Vancouver Octobre 2016)
  • Kuentz P, Duffourd Y, St-Onge J, Sorlin A, Carmignac V, Jouan T, Amiel J, Bahi-Buisson N, Bessis D, Boute O, Bursztejn A-C, Chiaverini C, Coubes C, Goldenberg A, Isidor B, Martin L, Maruani A, Mazereeuw-Hautier J, Mignot C, Morice-Picard F, Petit F, Phan A, Touraine R, Vincent M, Willems M, Marle N, Hadj-Rabia S, Vabres P, Rivière J-B, Faivre L. PIK3CA-Related Overgrowth Spectrum (PROS) molecular spectrum and recommendations for testing among a novel series of 205 patients. (ASHG – Vancouver Octobre 2016)
  • Lefebvre M, Duffourd Y, Tisserant E, Olivier-Faivre L, Lehalle D, Jean-Marçais N, Laurent N, Antal M-C, El Chehadeh S, Schaefer E, Lambert L, Leheup B, Foliguet B, Masutti J-P, Arbez-Gindre F, Quelin C, Odent S, Fradin M, Loget P, Bigi N, Genevieve D, Willems M, Blesson S, Toutain A, Lafargue F, Francannet C, Beaufrere A-M, Dechelotte P, Thevenon J, Thauvin C. Identification of new genes responsible for syndromic developmental abnormalities using whole exome sequencing. (ASHG – Vancouver Octobre2016)
  • Kinsler V-A, Thomas A-C, Zeng Z, Rivière J-B, O'Shaughnessy R, Al-Olabi L, St-Onge J, AthertonD-J, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong W-K, Duffourd Y, Forde K, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Kuentz P, Lacour J-P, Mushtaq I, Polubothu S, Waelchli R, Wobser M, Patton E-E, Vabres P. GNA11 and GNAQ post-zygotic mosaicism cause an overlapping spectrum of neurocutaneous disorders. (ASHG – Vancouver Octobre 2016)
  • C. Thauvin‐Robinet, J. Thevenon, S. Nambot, P. Kuentz, A. Bruel, A. Chassagne, E. Cretin, O. Putois, A. Pelissier, C. Peyron, E. Gautier1, J. Skrzypski, D. Lehalle, N. Jean-Marçais, P. Callier, A. Mosca-Boidron, C. Poé, T. Jouan, M. Chevarin, M. Lefebvre, E. Tisserant, C. Binquet, J. Deleuze, Y. Duffourd, L. Faivre. Secondary actionable findings identified by whole‐exome sequencing: frequency and potential subsequent medical recommendations and organisation: study of 700 consecutive tests. (ASHG – Vancouver Octobre 2016)
  • P. Vabres, V. Parker, J. St-Onge, Y. Duffourd, D. Rodriguez , C. Mignot, R. Knox, A. Boland, R. Olaso, M. Delepine, V. Darmency,C. Vincent-Delorme, B. Catteau, L. Guibaud, A. Arzimanoglou, M. Keddar, P. Callier, D. Bessis, D. Geneviève, J.-F. Deleuze, R. Semple, L. Faivre ,J.-B. Rivière. Postzygotic MTOR activating mutations in hypomelanosis of Ito with brain overgrowth. (ASHG – Vancouver Octobre 2016)
  • B. Demeer, A. Dadban, P. Vabres, A. Varenterghem, J. Thevenon, D. Bremond-Gignac, J.B Riviere, C. Thauvin, L. Faivre. Reverse phenotyping of a patient with CRIPT gene mutation and further delineation of the associated phenotype. (ASHG – Vancouver Octobre 2016)
  • J. Delanne, G. Laurent, J. Thevenon, C. Bonnet, S. Falcon-Eicher, C. Thauvin-Robinet, Y. Duffourd , T. Jouan, A. Baurand, C. Jacquot, N. Jean , L. Faivre. A novel family with an unreported p.Glu768Lys TNNI3K mutation and atrial or junctional tachycardia. (ASHG – Vancouver Octobre 2016)
  • A. Sorlin, A. Maruani, J.-B. Rivière, Y. Duff ourd, P. Kuentz, J. St-Onge, M. Chevarin, T. Jouan, C. Thauvin-Robinet, J. Thevenon, L. Faivre, P. Vabres. Postzygotic KITLG mutation in a congenital non-progressive linear nevoid hyperpigmentation. (ASHG – Vancouver Octobre 2016)

2015

  • Thevenon J, Faivre L., Thauvin‐Robinet C., Masurel‐Paulet A., Willems M., Lambert L., El Chehadeh‐Djebbar S., Schaefer E., Jaquette A., Bourchany A., Cabret C., St‐Onge J., Duffourd Y., Callier P., Aral B., Rivière JB, Reducing the turnaround times for clinical whole-exome sequencing in families requiring time-effective diagnostics (Genomics of Rare Disease: Beyond the Exome, Cambridge-Avril 2015)
  • Faivre L, Courcet JB, Parker V, St-Onge J, Duffourd Y, Darmency V, Rodriguez D, Mignot C, Vincent-Delorme C, Guibaud L, Arzimanoglou A, Keddar M, Daoud F, Callier P, Geneviève D, Semple R, Vabres P, Rivière JB, From gene identification to treatment: a case report of everolimus treatment in mTOR-related overgrowth s (Genomics of Rare Disease: Beyond the Exome, Cambridge-Avril 2015)
  • Lehalle D., Masurel-Paulet A., Mosca-Boidron A., Deardorff M., Olivie H., Thevenon J., Willemsen M., Zweier C., Rauch A., Gilissen C., Callier P., Thauvin-Robinet C., Faivre L.. STAG1 haploinsufficiency is responsible for a new cohesinopathy ith intellectual disability and characteristic facial features in four unrelated individuals. (ESHG Glasgow, Juin 2015).
  • Miguet M, Thevenon J, Riviere JB, Schaefer E, Antal M, Abida R, Weingertner A, Kremer V, Thauvin-Robinet C, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Laugel V, Mandel J, Dollfus H, Faivre L, Calmels N, El Chehadeh S, thogenic compound heterozygous mutations in the ERCC2 gene in a foetus with severe congenital ichthyosis and dysmorphic features: a case report (ESHG Glasgow -Juin 2015).
  • Jean-Marçais N, Pierquin G, St-Onge J, Callier P, Duffourd Y, Thauvin-Robinet C, Aral B, Rivière JB, Faivre L, Thevnon J, Bi-allelic TBX6 variations in a patient with spondylocostal dysostosis (ESHG Glasgow -Juin 2015).
  • Nambot S, Thevnon J, Gavrilov D, Beaudet A, Bainbridge M, Goizet C, Niu N, Xia F, Bruel A, Saint-Onge J, Duffourd Y, Thauvin-Robinet C, Rivière JB, Faivre L, International datasharing of Exome sequencing results for the clinical delineation of extremely rare disorders: example of autosomal recessive mutations in GFER (ESHG Glasgow - Juin 2015).
  • Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M,  Feillet F, El Chehadeh-Djebbar S, Pélissier A, Callier P, Marle N, Mosca-Boidron A, Steinmetz A, Jugé C, Nambot S, Béjean S, Peyron C, Huet F, Chouchane M, Darmency-Stamboul V, Aral B, St Onge J, Thauvin-Robinet C, Faivre L, Rivière JB, Diagnostic odyssey in severe neurodevelopmental disorders: The utility of clinical whole-exome sequencing  (ESHG Glasgow - Juin 2015).
  • Lefebvre M, Martin-Coignard D, Rivière JB, Duffourd Y, Thevnon J, Thauvin-Robinet C, Redin C, Mandel J, Ben Signor C, Piton A, Faivre L, The power of next generation sequencing in identifying atypical presentations of known OMIM genes: the exemple of CUL4B (ESHG Glasgow - Juin 2015).
  • Masurel-Paulet A, Thevenon J,  Jean N, Lehalle D, Minot D, Thauvin C, Rivière JB, Faivre L, A second family with THOC6 mutations and syndromic intellectual disability (ESHG Glasgow - Juin 2015).
  • Floriane L, Faivre L, Gautier T, Petit J, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi M, Lagrost L, Thauvin-Robinet C, Duplomb L, Insulin response dysregulation explains abnormal fat storage and high risks of diabetes mellitus type 2 in Cohen Syndrome (ESHG Glasgow - Juin 2015)
  • Demeer B, Dadban A, Vabres P, Morin G, Aral B, Varenterghem A, Thevnon J, Bremond-Gignac D, St-Onge J, Rivière JB, Courcet J, Thauvin C, Faivre L, Reverse phenotyping of a patient with CRIPT gene mutation and further delineation of the associated phenotype (ESHG Glasgow - Juin 2015).
  • Bruel A, Lambacher N, Van Dam J, Slaats G, Szymanska K, Kennedy J, Gaff K., Johnson C, Giles R, Attie-Bitach T, Cormier-Daire V, Saunier S, Burglen L, Faivre L, Rivière JB, Huynen M, Thauvin-Robinet C, Blacque O, TMEM-107 is anchored to ring-like subdomains of the transition zone (TZ) membrane and organizes the TZ recruitment of ciliopathy transmembrane proteins (ESHG Glasgow - Juin 2015).
  • Thauvin-Robinet C., Bruel A. L., Toriyama M., Lee C., Taylor S. P., Duran I., Cohn D. H., Tabler J. M., Drew K., Kelley M. R., Kim S., Park T. J., Braun D., Pierquin G., Biver A., Wagner K., Malfroot A., Panigrahi I., Al-Lami H. A., Yeung Y., Choi Y. J., Faivre L., Riviere JB., Chen J., Liu K. J., Marcotte E. M., Hildebrandt F., Krakow D., Jackson P. K., Wallingford J. B.. A new ciliopathy protein complex directing assembly of the IFT machinery is implicated in OFD syndrome and other ciliopathies. (ASHG Baltimore, Octobre 2015)
  • Thevenon J., Bigoni S., St-Onge J., Parmeggiani G., Ferlini A., Garani G., Ballardini E., Gilissen C., van Bon B., Acuna-Hidalgo R., Thauvin-Robinet C., Bohring A., Rivière J.B, Brunner H.G, Faivre L., Hoischen A., Autosomal recessive truncating mutations of KLHL7 cause a Bohring-Opitz like syndrome (ASHG Baltimore - Octobre 2015).
  • Bruel A., van der Burgt I., Morton J., St-Onge J., El Chehadeh-Djebbar S., Hoischen A., Gilissen C., Vissers L., Pfundt R., Thauvin-Robinet C., Brunner H. G., Rivière J.B, Faivre L., Thevenon J.,  De novo truncating mutations MSL3 cause a new recognizable syndrome (ASHG Baltimore - Octobre 2015).
  • Lefebvre M., St-Onge J., Doray B., Francannet C., Pinson L., Bazin A., Berg S., Attie-Bitach T., Baumann C., Fradin M., Pierquin G., Julia S., Quélin C., Dieux-Coeslier A., Vincent-Delorme C., Lambert L., Bachmann N., Lacombe D., Isidor B., Roume J., Blanchet P., Odent S., Kervran D., Laporrier N., Abel C., Segers K., Cormier-Daire V., Guiliano F., Baujat G., Ginglinger-Fabre E., Selicorni A., Goldenberg A., Faccadenti A., El Chehadeh S., Thauvin-Robinet C., Riviere J.B., Faivre L., Thevenon J., Clinical and radiographic indications for genetic testing of spondylocostal dysostosis (ASHG Baltimore - Octobre 2015).
  • Saunier C., Zweier C., Støve S. I., Gérard B., Piton A., Blenski M., Thevenon J., Masurel A., Popp B., Wasserstein M., Goldenberg P., Maria Mancini G., Tezcan K., Isidor B., Leheup B., Duffourd Y., Rivière J.B, Faivre L., Ah Mew N., Reis A., Arnesen T., Thauvin-Robinet C., NAA10 missense mutations cause neurodevelopmental delay in female patients (ASHG Baltimore - Octobre 2015).
  • Duplomb-Jego L., Droin N., Bouchot O., Thauvin-Robinet C., Bruel A., Thevenon J., Solary E., Faivre L., From the Bcl-2-deficient mice to the human phenotype : anuncomplete demonstration requiring data sharing (ASHG Baltimore - Octobre 2015).
  • Bourchany A., Thevenon J., Maudinas R., Savajols E., Huet F., Bruel AL., Gigot N., St Onge J., Duffourd Y., Rivière JB., Faivre L., Unique case of congenital diarrheal disorder with very short time of transit associated with mutation in a gene related to myosin stability and function, UNC45A (ASHG Baltimore - Octobre 2015)
  • Bruel AL, Toriyama M, Lee C, Paige Taylor S., Duran I, Cohn D H., Tabler J M., Drew K, Kelley M R., Kim S, Joo Park T, Braun D, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Adel Al-lami H, Yeung Y, Ja Choi Y, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu K J., Marcotte E M., Hildebrandt F, Krakow D, Jackson P K., Thauvin-Robinet C, Wallingford J B. A new protein complex CPLANE implicated in ciliopathies promoting the assembly of IFT machinery (Cilia meeting, Strasbourg - Octobre 2015)

2014

  • Rivière JB, St-Onge J, Duffourd Y, Courcet JB, Fédération des Centres Labellisés « Anomalies du Développement » (FeCLAD), Faivre L, Demeer B, Vabres P. Genetic studies of mosaic birth defects affecting the skin by next-generation DNA sequencing. (ESHG Milan, Mai-Juin 2014).
  • Thauvin-Robinet C, Picot D, Duplomb-Jego L, Thevenon J, Terriat B, Minot D, St-Onge J, Duffourd Y, Vabres P, Rivière JB, Faivre L. Homozygous FIBP truncating mutation in a new multiple congenital anomalies syndrome with overgrowth, macrocephaly, Iris coloboma, and learning disabilities. (ESHG Milan, Mai-Juin 2014).
  • Mandel J, Redin C, Muller J, Gérard B, Jost B, Dumas M, Le Gras S, Bonneau D, Dollfus H, Alembik Y, Flori E, Drouin Garraud V, Lacombe D, Doco Fenzy M, Sarda P, Geneviève D,  Edery P, Isidor B, Olivier-Faivre L, Piton A. Efficient molecular diagnosis of Intellectual Disability: targeted High throughput exon sequencing of 217 ID genes detects causative mutations in at least 26 of 106 tested patients. (ESHG Milan, Mai-Juin 2014).
  • Lefebvre M, F. Dufernez, T. Rousseau, Thevenon J Aral B, Gigot N, J. Desir, C. Daelemans, F. Jossic, S. Scmitt, R. Mangione, F. Pelluard, C. Vincent-Delorme, J. Labaune, N. Bigi, D. D’Olne, Gonzales M, El Chehadeh S , G. Mace, P. Sagot, Vabres P, Faivre L Laurent N, Thauvin-Robinet C. Prenatal diagnosis of severe X-linked chondrodysplasia punctuata in 8 female fetuses. (ESHG Milan, Mai-Juin 2014).
  • Avila M, St-Onge J M. Auclair, Duplomb L, M. Caron-Debarle, M. Le Merrer, B. Le Luyer, Héron D, M. Mathieu-Dramard, P. Bitoun0, J. Petit, S. Odent J. Amiel, Carmignac V, Thevenon J, Marle N, M. Laville Y. Reznik, C. Fagour, M. Nunes, J. Capeau, O. Lascols, Huet F,0, C. Vigouroux, Faivre L Rivière JB Thauvin-Robinet C. Clinical reappraisal of SHORT syndrome at the light of the PIK3R1 gene discovery. (ESHG Milan, Mai-Juin 2014).
  • El Chehadeh S V. Des Portes, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Réseau AChropuce, J. Amiel, M. Nizon, Touraine R, Prieur F, L. Pasquier, Julia S, C. Sarret, Francannet C, F. Laffargue, O. Boespflug-Tanguy0, David A, Isidor B, C. Lecaignec, Leheup B, L. Lambert, Philippe C, Cuisset J, Andrieux J, Plessis G, Toutain A, A. Goldenberg, Cormier-Daire V, Rio M, J. Bonnefont, Thevenon J, H. Journel, A. Afenjar, L. Burglen, T. Bienvenu, M. Addor, S. Lebon, C. Baumann, L. Perrin, P. Jouk, F. Devillard, Lacombe D, Philip N0, Moncla A, Badens C, N. Perreton, Thauvin-Robinet C0 Faivre L0 L. Guibaud. Duplication in France: delineation of brain MRI abnormalities in 30 affected patients. (ESHG Milan, Mai-Juin 2014).
  • H. Poquet, M. Willems, Thevenon J, Redin C, Lefebvre M, Redin C, Mosca-Boidron AL, Thauvin-Robinet C, Duffourd Y, S. Lumbroso, B. Gerard, Mandel J, Rivière JB, A. Piton, Olivier-Faivre L. The power of Next Generation Sequencing in identifying mutations in non-specific ASD-ID phenotypes: the example of SHANK3. (ESHG Milan, Mai-Juin 2014).
  • Thevenon J, F. Feillet, M. Milh, St-Onge J, Duffourd Y, A. Roubertie, E. Raffo, C. Jugé, Héron D, Isidor B, Sanlaville D, S. Wahlen, Darmency-Stamboul V, Masurel-Paulet A, Thauvin-Robinet C, Toutain A, Lesca G, S. Odent, Philippe C, Olivier-Faivre L, Rivière JB. Exome sequencing reveals mutations of a solute carrier gene in an autosomal recessive form of epileptic encephalopathy of the first days of life. (ESHG Milan, Mai-Juin 2014).
  • 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, J. Donadieu, C. Bellanné-Chantelot, L. Delva, J. Michalski, E. Solary, Faivre L , F. Foulquier, Thauvin-Robinet C. Cohen syndrome is associated with major glycosylation defects. (ESHG Milan, Mai-Juin 2014).
  • Duffourd Y, St-Onge J , Courcet JB Faivre L Vabres P, Rivière JB . Somaticaller: a somatic and post-zygotic mutation detection software from DNA-seq data. (ESHG Milan, Mai-Juin 2014).
  • S. Nambot, A. Mosca Boidron, A. Masurel, M. Lefebvre, N. Marle, J. Thevenon, J. De Montléon, S. Perez Martin, M. Chouchane, E. Sapin, J. Metaizeau, V. Dulieu, F. Huet, C. Thauvin Robinet, L. Chatel, V. Abadie, G. Plessis, J. Andrieux, P. Jouk, G. Billy Lopez, C. Coutton, F. Morice Picard, M. Delrue, C. Rooryck Thambo, L. Faivre. 9q33.3q34.11 microdeletion: Delineation of a new contiguous gene syndrome including the STXBP1, LMX1B and ENG genes using reverse phenotyping. (ASHG San Diego, Octobre 2014).
  • Poquet H, Faivre L, El Chehadeh S, Morton J, Goel H, Isidor B, Lecaignec C, Andrieux J, Delobel B, Lefebvre M, Juif C, Collinet de la Salle A, Lagarde N, Henry C, Marle N, Callier P, Mosca-Boidron AL. Further evidence for DLGAP2 as an ASD/ ID candidate gene. (ASHG San Diego, Octobre 2014)
  • Andrieu N, Dondon MG, Eonmarchais S, Damiola F, Marcou M, Barjhoux L, Gauthier-Villars M, Buecher B, Chompret A, Caron O, Vennin P, Coupier I, Nogues C, Bonadona V, Gesta P, Dugast C, Maugard C, Fricker JP, Faivre L, Luporsi E, Longy M, Berthet P, Delnatte C, Chevrier A, Colas C, Bignon YJ, CGEI. Platform, Mazoyer S, Stoppa-Lyonnet D, Sinilnikova O. Genesis: a french national resource to study the missing heritabilityof breast cancer. (ASHG San Diego, Octobre 2014)
  • Pinard A, Hanna N, Guien C, Faivre L, Jondeau G, Boileau C, Beroud C, Collod-Beroud G. Wes reporting of mutations from cardiovascular “actionable” genes in clinical practice: a key role for umd knowledgebases. (ASHG San Diego, Octobre 2014)
  • Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gauthier E, Edery P, Malan V, Afenjar A, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Moutton S, Chassaing N, Lespinasse J, Manouvrier-Hanu S, Marti-Dramard M, Goldenberg A, Ferrec C, Odent S, Le Caignec C, Gilbert-Dussardier B, Toutain A, Schaefer E, Philip N, Giuliano F, Lambert L, Kuentz P, Julia S, Olivier-Faivre L. Ethical implications of incidental findings found by array-cgh in aroutine clinical population. (ASHG San Diego, Octobre 2014)
  • Thevenon J, St-Onge J, Duffourd Y, Masurel-Paulet A, El chehadeh-Djebbar S, Juge C, Callier P, Lefebvre M, Chouchane M, Darmency-Stamboul V, Milh M, Feillet F, Thauvin-Robinet C, Faivre L,Rivière JB. Proband whole-exome sequencing as a cost-effective diagnostic strategyfor suspected mendelian disorders. (ASHG San Diego, Octobre 2014)
  • Faivre L, Daoud F, Cabret C, St-Onge J, Gautier E, Callier P, Lacombe D, Moutton S, Delrue MA, Goizet C, Morice-Picard F, Munnich A, Lyonnet S, Cormier-Daire V, Holder M, Petit F, Leheup B, Thevenon J, Odent S, Jouk PS, Sarda P, Collignon P, Maryin-Coignard D, Jacquette A, Collod-Beroud G, Boileau C, Jondeau G, Thauvin-Robinet C, Duffourd Y, Rivière JB. Excess of de novo variants in genes involved in chromatin remodelingand regulation of transcription in patients with marfanoid habitus andintellectual disability. (ASHG San Diego, Octobre 2014)
  • Courcet JB, Minello A, Prieur F, Morisse L, Phelip JM, Beurdeley A, Meynard D, Massenet D, Lacassin F, Duffourd Y, Gigot N, St-Onge J, Hillon P, Vanlemmens C, Mousson C, Cerceuil JP, Guiu B, Thevenon J, Thauvin-Robinet C, Jacquemin E, Rivière JB, Michel-Calemard L, Faivre L. Pkhd mutations are associated with the whole spectrum of ductalplate malformations. (ASHG San Diego, Octobre 2014)
  • Mosca-Boidron A, Salomons GS, Struys EA, Vianey-Saban C, Faivre L, Lefebvre L, Marle N, Feillet F, PayeTM, Ragon C, Mugneret F, Masurel-Paulet A, Thevenon J, Mourot de Rougemont MG, Thauvin-Robinet C, Callier P, El Chehadeh S. First case of homozygous deletion in the abat gene leading to gabat deficiency and severe neonatal neurologic disease. (ASHG San Diego, Octobre 2014)
  • Faivre L. Excess of de novo variants in genes involved in chromatin remodeling and regulation of transcription in patients with marfanoid habitus and intellectual disability. (Manchester Dysmorphology conference Manchester, Novembre 2014).
  • Blacque O, Van Dam J, Bruel AL, Slaats G, Szymanska K, Kennedy J, Gaff K, Johnson CA, Giles R, Rivière JB, Attie-Bitach T, Cormier-Daire V, Saunier S, Burglen L, Mcmanus G, Thauvin-Robinet C, Huynen M,  Lambacher N. TMEM107 is a ciliopathy protein that recruits ciliopathy TMEMs to anchored ring-like domains of the C. elegans ciliary transition zone membrane. (Cilia meeting Paris, Novembre 2014).
  • N. Lambacher, J. Van Dam, Bruel AL, G. Slaats, K. Szymanska, J. Kennedy, K. Gaff, J.B. Riviere, T. Attie-Bitach, V. Cormier-Daire, S. Saunier, C.A. Johnson, R. Giles, Thauvin-Robinet C, M. Huynen, O.E. Blacque TMEM-107 is anchored to ring-like subdomains of the transition zone (TZ) membrane and is mutated in oral-facial digital and Joubert syndrome individuals. (Cilia meeting Paris - Novembre 2014).
  • Desch L, Herbemont C, Jonval L, Michel F,  Bechoua S, Bruno C, Girod S, Sagot P, Fauque P. Intérêts et conséquences d’une deuxième congélation de spermatozoïdes testiculaires après 24H de culture: résultats des paramètres spermatiques et des issues d’ICSI. (XXXièmes journées de la SALF, 2014).
  • Choux C, Carmignac V, Bruno C, Sagot P, Fauque P. Does Assisted Reproductive Technology have an impact on epigenetic control of transposable elements?: a study in a birth cohort. (ESHRE, Epigenetics in reproduction, Lisbonne, 2014).

2013

  • C. Thauvin-Robinet, L. Duplomb, M. Avila, J. St-Onge, M. Le Merrer, B. Le Luyer, D. Héron, M. Mathieu-Dramard, P. Bitoun, S. Odent, J. Amiel, D. Picot, V. Carmignac, J. Thevenon, P. Callier, F. Huet, L. Faivre, JB. Rivière. Mutations in PIK3R1 cause syndromic insulin resistance and lipodystrophy. European Society of Human Genetics (ESHG Paris, Juin 2013)
  • Thevenon J., Corbin L., Seabold G., Dygai-Cochet I., Duplomb-Jégo L., Thauvin-Robinet C., Gay S., Masurel-Paulet A., Carmignac V., Courcet JB., Minot D., Chancenotte S., Bonnet M., Callier P., Mosca-Boidron AL., Marle N., Mugneret F., Petralia R., Souchay C., Faivre L. Hemizygous deletion of LRFN2/SALM1 is responsible for a selective working memory deficit (ESHG Paris, Juin 2013)
  • 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, Ruszniewski P, Le Bras M, Delemer B, Bouchard P, Beckers A, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Penfornis A, Cohen R, Archambeaud F, Kerlan V, Duron F, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Higher risk of death among MEN1 patients with mutations in the JunD interacting domain. A GTE cohort study (Groupe d’étude des Tumeurs Endocrines) (ESHG Paris, Juin 2013)
  • J. Thevenon, P. Callier, H. Poquet, C. Thauvin-Robinet, Z. Tumer, L. Bernardini, A. Masurel, AL. Mosca-Boidron, N. Marle, F. Mugneret, S. El Chehadeh, JM. Petit, V. Malan, B. Menten, B. Loeys, S. Lyonnet, B. Dallapiccola, F. Huet, L. Faivre. 3q27.3 microdeletional syndrome: a recognizable clinical entity associating dysmorphic features, developmental delay with psychotic behavioural troubles and a marfanoid habitus. (ESHG Paris, Juin 2013)
  • J. Thevenon, L. Corbin, G. Seabold, I. Dygai-Cochet, L. Duplomb-Jégo, C. Thauvin-Robinet, S. Gay, A. Masurel-Paulet, E. Lopez, V. Carmignac, JB. Courcet, D. Minot, S. Chancenotte, M. Bonnet, P. Callier, AL. Mosca-Boidron, N. Marle, F. Mugneret, R. Petralia C. Souchay, L. Faivre. Hemizygous deletion of LRFN2/SALM1 is responsible for a selective working memory deficit. (ESHG Paris, Juin 2013)
  • Faivre L., Poquet H., Callier P., Tumer Z., Dallapiccola B., Bernardini L., Masurel-Paulet, A., Thauvin-Robinet C., Mosca-Boidron AL., Marle N., Mugneret F., El Chehadeh S., Petit J., Malan V., Huet F., Menten B., Loeys B., Lyonnet S., Thevenon J. 3q27.3 microdeletional syndrome: a recognizable clinical entity, associating dysmorphic features, developmental delay with psychotic, bipolar troubles and a marfanoid habitus. (ESHG Paris, Juin 2013)
  • S. El Chehadeh, R. Touraine, F. Prieur, L. Pasquier, S. Julia, C. Sarret, C. Francannet, O. Boespflug-Tanguy, M. Doco-Fenzy, A. David, B. Isidor, J. Vigneron, B. Leheup, L. Lambert, G. Plessis, J. Cuisset, B. Delobel, B. Duban-Bedu, C. Vincent-Delorme, A. Toutain, J. Amiel, V. Cormier-Daire, M. Rio, C. Philippe, T. Bienvenu, J. Andrieux, J. Bonnefont, S. Drunat, V. Malan, S. Chantot, A.Goldenberg, C. Rooryck-Thambo, C. Le Caignec, H. Journel, A. Afenjar, L. Burglen, D. Héron, C. Baumann, P. Jouk, F. Devillard, D. Lacombe, N. Philip, A. Moncla, M. Delrue, R. AChro-Puce, L. Perrin, J. Alessandri, V. Des Portes, L. Olivier-Faivre. The French cohort of MECP2 duplication patients: clinical delineation of 45 affected patients (ESHG Paris, Juin 2013)
  • N. Marle, D. Sanlaville, AL. Mosca-Boidron, P Callier, C. Thauvin-Robinet, S. El Chehadeh, S. Pigeonnat, C. Ragon, M. Payet, N. Laurent, T. Rousseau, L. Faivre, F. Mugneret. Fetoplacental discrepancy involving complex structural rearrangement of chromosome 13 : First case of constitutionnal chromothripsis ascertained by prenatal diagnosis (ESHG Paris, Juin 2013)
  • AL. Mosca-Boidron, A. Masurel, N. Marle, C. Ragon, M. Payet, P. Callier, S. Chancenotte, S. El Chehadeh, C. Thauvin-Robinet, L. Faivre, F. Mugneret. New technologies permitted rectification of a diagnosis 14 years later. European Society of Human Genetics (Paris, Juin 2013).
  • L. Duplomb-Jego, L. Faivre, A. Hammann, G. Jego, N. Droin, E. Lopez, B. Aral, N. Gigot, S. El Chehadeh, F. Huet, P. Callier, J. Thevenon, V. Carmignac, C. Capron, MA. Gougerot-Pocidalo, F. Girodon, JN. Bastie, E. Solary, L. Delva, C. Thauvin-Robinet. Apoptosis is responsible for neutropenia in Cohen syndrome (ESHG Paris, Juin 2013)
  • V. Carmignac, L. Adès, B. Callewaert, J. Thevenon, S. Julia, B. Tournier, J. Plaisancié, T. Edouard, Y. Dulac, G. Baujat, F. Petit, D. Martin, C. Thauvin-Robinet, K. Holman, M. Renard, H. Plauchu, G. Plessis, J. De Backer, A. Child, G. Arno, L. Duplomb, B. Aral, P. Vabres, N. Gigot, M. Durbeej-Hjalt, E. Arbustini, M. Grasso, PN. Robinson, M. Di Rocco, J. Sanchez Del Pozo, F. Huet, G. Jondeau, JB. Rivière, N. Hanna, C. Chapusot, N. Laurent, P. Amiatu, R. Gustafsson, C. Boileau, A. De Paepe, L. Faivre. Clinical reappraisal of Shprintzen-Goldberg syndrome at the light of the gene discovery (ESHG Paris, Juin 2013)
  • A. Masurel-Paulet, A. Piton, S. Chancenotte, C. Redin, D. Minot, A. Creppy, C. Lestie, M. Ruffier Bourdet, C. Thauvin, J. Thevenon, A. Curie, G. Blanchard, M. Bonnet, M. Archimbaud, JL. Mandel, L. Faivre. A new family with SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome (ESHG Paris, Juin 2013)
  • P. Callier, P. Calvel, M. D. Resh, C. Thauvin, P. Makrythanasis, F. Santoni, M. Guiponni, A. Vannier, S. Lambert, F. Huet, F. Mugneret, L. Faivre, S. Antonarakis, S. Nef. Hedgehog acetyltransferase (HHAT) mutation in autosomal recessive chondrodysplasia-pseudohermaphrodism syndrome identified by exome sequencing (ESHG Paris, Juin 2013)
  • M. Avila, M. Kirchhoff, N. Marle, H. D Hove, M. Chouchane, C. Thauvin-Robinet, A. Masurel, AL. Mosca-Boidron, P. Callier, F. Mugneret, S. Kjaergaard, L. Faivre. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene (ESHG Paris, Juin 2013)
  • E Lopez, JB Rivière, J Thevenon, JS Lee, N El Khartoufi, S Saunier, M Avila, A Megarbané, P Kaori, J Takanashi, T Shida, J. Fernando Bazan, B Reversade, D Lacombe, P Kleinfinger, L Pasquier, P Loget, M Le Merrer, M Holder, J Martinovic, C Noël, F Razavi, L Devisme, B Doray, G Nadège, B Aral, L Jego, V Carmignac, F Huet, V Cormier-Daire, S Lyonnet, C Le Caignec, L Faivre, M Nachury, B Franco, T Attié-Bitach, C Thauvin-Robinet. Implication of 4 ciliary genes in OFD syndrome (ESHG Paris, Juin 2013)
  • A. Piton, H. Poquet, C. Redin, A. Masurel, J. Lauer, J. Muller, J. Thevenon, Y. Herenger, S. Chancenotte, M. Bonnet, JM. Pinoit, F. Huet, C. Thauvin-Robinet, S. LeGras, B. Jost, B. Gérard, K. Péoc’h, JM. Launay, L. Faivre, JL. Mandel. 20 ans après: a second family with mutation in X-linked monoamine oxidase A gene affecting cognition and behavior (ESHG Paris, Juin 2013)
  • L. El Khattabi, E. Pipiras, S. Drunat, F. Guimiot, J. Andrieux, C. Baumann, S. Bouquillon, A. L. Delezoide, B. Delobel, F. Demurger, H. Dessuant, C. Dubourg, C. Dupont, L. Faivre, M. Holder-Espinasse, S. Jaillard, H. Journel, S. Lyonnet, V. Malan, A. Masurel, N. Marle, C. Missirian, A. Moerman, A. Moncla, S. Odent, A. Ravel, S. Romana, A. C. Tabet, M. Vadulga, M. Vermelle, A. Verloes, B. Benzacken, A. Delahaye. 14 new patients with 6q16 deletion: a new minimal critical region and first fetopathological data (ESHG Paris, Juin 2013)
  • C. Redin, S. Le Gras, J. Lauer, A. Creppy, Y. Herenger, V. Geoffroy, Y. Alembik, M. Doco-Fenzy, B. Doray, P. Edery, S. El Chehadeh, L. Faivre, E. Flori, B. Isidor, G. Lesca, A. Masurel, B. Jost, J. Muller, B. Gérard, J.L. Mandel, A. Piton. Targeted High-Throughput Sequencing of 220 genes identifies a high proportion of causative mutations in over 80 patients with undiagnosed intellectual disability. American Society of Human Genetics (ASHG Boston, Novembre 2013)
  • A. Bourchany, I. Giurgea, J. Thevenon, A.Goldenberg, G. Morin, D. Bremond-Gignac, P.-O. Lafontaine, D. Thouvenin, J.Massy, A.Masurel-Paulet, C.Thauvin-Robinet, S. El Chehadeh, S. Lyonnet, L. Faivre. Clinical spectrum of eye malformations in 4 new patients with Mowat Wilson syndrome. (ASHG Boston, Octobre 2013)
  • Thevenon J., Laurent G., Charon P., Laforêt P., Millaire A., Klug D., Gouya L., Maurage C.A., Kacet S., Eicher J.C., Jeunemaitre X., Desnos M., Bieth E., Bouvagnet P., Duboc D., Martin L., Réant P., Picard F., Bonithon-Kopp C., Gautier E., Binquet C., Thauvin-Robinet C., Wolf J.E., Faivre L., Richard P. Clinical and mutational spectrum in patients with cardiac glycogenosis related to mutations in the PRKAG2 gene. (ASHG Boston, Octobre 2013)
  • E. Lopez, C. Thauvin-Robinet, N. El Khartoufi, L. Devisme, M. Holder, H. Ansart-Franquet, D. Lacombe, P. Kleinfinger, I. Kaori, J. I. Takanashi, M. Le Merrer, J. Martinovic, C. Noël, M. Shboul, L. Ho, Y. Güven, F. Razavi, L. Burglen, V. Darmency-Stamboul, M. Avila, J. Thevenon, B. Aral, H. Kayserili, S. Lyonnet, C. Le Caignec, B. Franco, B. Reversade, L. Faivre, J. B. Rivière, T. Attié-Bitach. C5orf42 is the major gene responsible for OFD syndrome type VI. (ASHG Boston, Octobre 2013)
  • S. Mercier, S. Küry, G. Shaboodien, D. Houniet, N. Khumalo, J.-M. Mussini, E. Salort-Campana, D. Figarella, N. Bodak, A. Munnich, R. Gherardi, V. Cormier-Daire, C. Thauvin, L. Faivre, K. Pillay, C. Bou-Hanna, C. Laboisse, A. Hamel, A. Magot, C. Le Caignec, A. David, S. Barbarot, B. Keavney, S. Bézieau, B. Mayosi. Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma (HFP) with tendon contracture, myopathy and pulmonary fibrosis. (ASHG Boston, Octobre 2013)
  • C. Redin, S. Le Gras, J. Lauer, A. Creppy, Y. Herenger, V. Geoffroy, Y. Alembik, M. Doco-Fenzy, B. Doray, P. Edery, S. El Chehadeh, L. Faivre, E. Flori, B. Isidor, G. Lesca, A. Masurel, B. Jost, J. Muller, B. Gérard, J. L. Mandel, A. Piton. Targeted High-Throughput Sequencing of 220 genes identifies a high proportion of causative mutations in over 80 patients with undiagnosed intellectual disability. (ASHG Boston, Octobre 2013).
  • A. Bourchany, I. Giurgea, J. Thevenon, A. Goldenberg, G. Morin, D. Bremond-Gignac, P.-O. Lafontaine, D. Thouvenin, J. Massy, A. Masurel-Paulet, C. Thauvin-Robinet, S. El Chehadeh, S. Lyonnet, L. Faivre. Clinical spectrum of eye malformations in 4 new patients with Mowat Wilson syndrome. (ASHG Boston, Octobre 2013)
  • S. El Chehadeh, R. Touraine, F. Prieur, M. Doco-Fenzy, T. Bienvenu, S. Chantot, C. Philippe, N. Marle, P. Callier, A. L. Mosca-Boidron, F. Mugneret, N. Lemeur, A. Goldenberg, P. Chambon, V. Satre, C. Coutton, P. S. Jouk, F. Devillard, A. Afenjar, M. C. Addor, A. Ferrarini, S. Lebon, D. Martinet, J. L. Alessandri, S. Drunat, C. Thauvin-Robinet, J. Thevenon, N. Perreton, V. Desps Portes, L. Faivre. Xq28 duplication including MECP2 in 11 French affected females: what can we learn for diagnosis and genetic counselling? (ASHG Boston, Octobre 2013)

2012

  • C. Pottier, D. Hannequin, S. Coutant, A. Rovelet-Lecrux, D. Wallon, S. Rousseau, S. Legallic, C. Paquet, S. Bombois, J. Pariente, C. Thomas-Anterion, A. Michon, B. Croisile, F. Etcharry-Bouyx, C. Berr, J. Dartigues, P. Amouyel, H. Dauchel, C. Boutoleau-Bretonnière, C. Thauvin, T. Frebourg, J. Lambert, D. Campion. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. (ESHG Nürnberg, Juin 2012)
  • A. Piton, C. Redin, F. Feillet, L. Faivre, A. Masurel, C. Ottolenghi, JL. Mandel. Is histidinemia always a “non-disease”? and why truncating mutations in the HAL gene appear so rare? (ESHG Nürnberg, Juin 2012)
  • A. Masurel-Paulet, F. Levy, C. Thauvin- Robinet, J. Thevenon, S. Chancenotte, M. Ruffier-Bourdet, M. Bonnet, S. El Chehadeh, V. Desportes, J. Chelly, L. Faivre. Expanding the clinical phenotype of patients with ZDHHC9 mutation. (ESHG Nürnberg, Juin 2012)
  • A. Mosca-Boidron, M. Valduga, C. Thauvin, N. Lagarde, C. Henry, M. Béri-Deixheimer, N. Marle, M. Payet, C. Ragon, L. Gueneau, P. Callier, F. Mugneret, P.Jonveaux, L. Faivre. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism. (ESHG Nürnberg, Juin 2012)
  • N. Marle, P. Callier, A. Mosca-Boidron, C. Thauvin-Robinet, N. Laurent, M. Gérard, A.Masurel-Paulet, T. Rousseau, M. Payet, C. Ragon, F. Mugneret, L. Olivier-Faivre. Deletion 18q21.2q21.31 encompassing TCF4 diagnosed by CGH-Array in a fetus presenting with hypoplastic corpus callosum. (ESHG Nürnberg, Juin 2012)
  • J. Thevenon, E. Lopez, B. Keren, D. Héron, C. Mignot, C. Altuzarra, L. Gallagher, M. Béri-Dexheimer, C. Bonnet, E. Magnin, L. Burglen, D. Minot, J. Vigneron, S.Morle, M. Anheim, P. Charles, A. Brice, J. Amiel, E. Haffen, C. Mach, C. Depienne, D. Doummar, M. Bonnet, L. Duplomb, V. Carmignac, P. Callier, A. Mosca-Boidron, N. Marle, V. Roze, B. Aral, F. Razavi, P. Jonveaux, L. Faivre, C. Thauvin-Robinet. Clinical spectrum of intragenic CAMTA1 rearrangements: From nonprogressive congenital ataxia to intellectual disability. (ESHG Nürnberg, Juin 2012)
  • C. Thauvin-Robinet, S. Thomas, M. Sinico, B. Aral, L. Burglen, N. Gigot, H. Dollfus, S. Rossignol, M. Raynaud, C. Philippe, N. Badens, R. Touraine, C. Gomes, B. Franco, E. Lopez, N. Elkhartoufi, L. Faivre, A. Munnich, N. Boddaert, L. Van Maldergem, F. Encha-Razavi, S. Lyonnet, M. Vekemans, E. Escudier, T. Attié-Bitach. Novel OFD1 mutations in males extend the phenotypic spectrum to vermis hypoplasia, polydactyly, hypothalamic hamartoma and situs inversus, and basal bodies docking impairment. (ESHG Nürnberg, Juin 2012)
  • S. Thomas, M. Legendre, S. Saunier, B. Bessières, C. Alby, M. Bonnière, A. Toutain, L. Loeuillet, K. Szymanska, F. Jossic, D. Gaillard, M. Tahar Yacoubi, S. Mougou-Zerelli, A. David, M.-A. Barthez, Y. Ville, C. Bole-Feysot, P. Nitschke, A. Munnich, C. A. Johnson, F. Encha-Razavi, V. Cormier-Daire, C. Thauvin-Robinet, M. Vekemans, T. Attié-Bitach. TECTONIC3 mutations cause orofaciodigital syndrome type IV (Mohr-Majewski). (ASHG San Francisco, Novembre 2012)
  • A. Putoux, S. Nampoothiri, V. Cormier-Daire, N. Laurent, P. Beales, A. Schinzel, D. Bartholdi, C. Alby, S. Thomas, N. Elkhartoufi, J. Litzler, F. Encha-Razavi, R. Kannan, A. Munnich, L. Faivre, N. Boddaert, A. Rauch, M. Vekemans, T. Attié-Bitach. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. (ASHG San Francisco, Novembre 2012)
  • L. Duplomb, L. Faivre, A. Hammann, G. Jego, N. Droin, E. Lopez, B. Aral, N. Gigot, S. El Chehadeh, F. Huet, P. Callier, J. Thevenon, V. Carmignac, C. Capron, MA. Gougerot-Pocidalo, F. Girodon, JN. Bastie, L. Delva, C. Thauvin-Robinet. Apoptosis is responsible for neutropenia in Cohen syndrome. (ASHG San Francisco, Novembre 2012)
  • E. Lopez, J. Thevenon, B. Keren, D. Heron, C. Mignot, C. Altuzara, M. Béri-Dexheimer, C. Bonnet, L. Burglen, D. Minot, J. Vigneron, P. Charles, A. Brice, L. Gallagher, J. Amiel, C. Mach, C. Depienne, D. Doummar, L. Duplomb, V. Carmignac, P. Callier, A. L. Mosca-Boidron, V. Roze, B. Aral, F. Razavi, P. Jonveaux, L. Faivre, C. Thauvin-Robinet. Clinical spectrum of intragenic CAMTA1 rearrangements: From non-progressive congenital ataxia to intellectual disability. (ASHG San Francisco, Novembre 2012)
  • S. El Chehadeh-Djebbar, F. Di Rocco, C. Collet, M. Le Merrer, J. Puechberty, G. Lefort, B. Aral, S. Lambert, N. Gigot, M. Payet, C. Ragon, N. Marle, A.L. Mosca-Boidron, J.R. Teyssier, C. Mugneret, C. Thauvin-Robinet, P. Sarda, L. Faivre, P. Callier. Search for a new gene responsible for non-syndromic craniosynostosis. (ASHG San Francisco, Novembre 2012)
  • JB. Courcet, E. Lopez, J. Thevenon, N. Gigot, L. Jego, C. Ragon, A. Masurel-Paulet, P. Callier, N. Marle, AL. Mosca-Boidron, F. Huet, C. Philippe, L. Lambert, P. Malzac, L. Faivre, A. Moncla, C. Thauvin-Robinet. The DYRK1A gene is a rare cause of Angelman-like syndrome with severe microcephaly and epilepsy. (ASHG San Francisco, Novembre 2012)