GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability von Bonnet-Brilhault, F, Alirol, S, Blanc, R, Bazaud, S, Marouillat, S, Thépault, R-A, Andres, C R, Lemonnier, É, Barthélémy, C, Raynaud, M, Toutain, A, Gomot, M, Laumonnier, F

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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression von Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel

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RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes von Valence, S., Garel, C., Barth, M., Toutain, A., Paris, C., Amsallem, D., Barthez, M.-A., Mayer, M., Rodriguez, D., Burglen, L.

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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia von Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants von Lerat, J., Magdelaine, C., Lunati, A., Dzugan, H., Dejoie, C., Rego, M., Beze Beyrie, P., Bieth, E., Calvas, P., Cintas, P., Delaubrier, A., Demurger, F., Gilbert-Dussardier, B., Goizet, C., Journel, H., Laffargue, F., Magy, L., Taithe, F., Toutain, A., Urtizberea, J.A., Sturtz, F., Lia, A.S.

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Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability von Vuillaume, M.-L., Cogné, B., Jeanne, M., Boland, A., Ung, D.-C., Quinquis, D., Besnard, T., Deleuze, J.-F., Redon, R., Bézieau, S., Laumonnier, F., Toutain, A.

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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder von Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.

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Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis? von Vuillaume, M.‐L., Moizard, M.‐P., Hammouche, E., Delrue, M.‐A., Perrin, L., Maftei, C., Dupont, C., Drunat, S., Cottereau, E., Baumann, C., Toutain, A.

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Small patella syndrome: New clinical and molecular insights into a consistent phenotype von Vanlerberghe, C., Jourdain, A.‐S., Dieux, A., Toutain, A., Callewaert, B., Dupuis‐Girod, S., Unger, S., Wright, M., Isidor, B., Ghoumid, J., Petit, F., Boutry, N., Escande, F., Manouvrier‐Hanu, S.

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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study von Thauvin-Robinet, C, Cossée, M, Cormier-Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R, Faivre, L

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Concert mondial de linguistique française von Avanzi, Mathieu, Bergounioux, Gabriel, Blanco Escoda, Xavier, Colombat, Bernard, Combettes, Bernard, Dembele, Souleymane, Desclés, Jean-Pierre, Fasciolo, Marco, Fenoglio, Irène, François, Jacques, Goes, Jan, Havu, Eva, Kleiber, Georges, Lala, Marie-Christine, Léonard, Jean Léo, Neveu, Armance, Noailly, Michèle, Prandi, Michele, Prévost, Sophie, Roig, Audrey, Soutet, Olivier, Thibault, André, Toutain, Anne-Gaëlle

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Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations von Solé, G, Coupry, I, Rooryck, C, Guérineau, E, Martins, F, Devés, S, Hubert, C, Souakri, N, Boute, O, Marchal, C, Faivre, L, Landré, E, Debruxelles, S, Dieux-Coeslier, A, Boulay, C, Chassagnon, S, Michel, V, Routon, M-C, Toutain, A, Philip, N, Lacombe, D, Villard, L, Arveiler, B, Goizet, C

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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly von Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., Redin, C., Bennouna Greene, V., Toutain, A., Perrin, L., Gérard, M., Caillard, S., Bei, X., Lewis, R.A., Christmann, D., Letsch, J., Kribs, M., Mutter, C., Muller, J., Stoetzel, C., Fischbach, M., Marion, V., Katsanis, N., Dollfus, H.

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Concert mondial de linguistique française: Mélanges offerts à Franck Neveu von Roig, Audrey, Toutain, Anne-Gaëlle

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Multitissular involvement in a family with LMNA and EMD mutations : Role of digenic mechanism? von BEN YAOU, R, TOUTAIN, A, LITIM, K. E, RAHMOUN-CHIALI, N, RICHARD, P, BABUTY, D, RECAN-BUDIARTHA, D, BONNE, G, ARIMURA, T, DEMAY, L, MASSART, C, PECCATE, C, MUCHIR, A, LLENSE, S, DEBURGRAVE, N, LETURCQ, F

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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements von Dimitrov, B I, de Ravel, T, Van Driessche, J, de Die-Smulders, C, Toutain, A, Vermeesch, J R, Fryns, J P, Devriendt, K, Debeer, P

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New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation von Curie, A, Friocourt, G, Bertrand, S, Rochefort, F, Loaëc, N, Reboul, A, Nazir, T, Brun-Laurisse, A, Cheylus, A, Bussy, G, Paulignan, Y, Toutain, A, Mortemousque, I, Gilbert-Dussardier, B, Prieur, F, Touraine, R, Hadjikhani, N, Gollub, R, Bobillier-Chaumont, I, des Portes, V

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Phenotype and genotype in females with POU3F4 mutations von Marlin, S, Moizard, MP, David, A, Chaissang, N, Raynaud, M, Jonard, L, Feldmann, D, Loundon, N, Denoyelle, F, Toutain, A

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Congenital myasthenic syndromes in childhood: Drug therapeutic strategies von de la Vaissière, S, Toutain, A, Chêne, M-A, Lagrue, E, Cantagrel, S, Provost, S, Eymard, B, Castelnau, P

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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity von Blons, H, Feldmann, D, Duval, V, Messaz, O, Denoyelle, F, Loundon, N, Sergout-Allaoui, A, Houang, M, Duriez, F, Lacombe, D, Delobel, B, Leman, J, Catros, H, Journel, H, Drouin-Garraud, V, Obstoy, M-F, Toutain, A, Oden, S, Toublanc, JE, Couderc, R, Petit, C, Garabédian, E-N, Marlin, S

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