Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities by Breuss, M, Heng, J, Poirier, K, Tian, G, Jaglin, X, Qu, Z, Braun, A, Gstrein, T, Ngo, L, Haas, M, Bahi-Buisson, N, Moutard, M, Passemard, S, Verloes, A, Gressens, P, Xie, Y, Robson, K, Rani, D, Thangaraj, K, Clausen, T, Chelly, J, Cowan, N, Keays, D

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. by Jaglin, X, Poirier, K, Saillour, Y, Buhler, E, Tian, G, Bahi-Buisson, N, Fallet-Bianco, C, Phan-Dinh-Tuy, F, Kong, X, Bomont, P, Castelnau-Ptakhine, L, Odent, S, Loget, P, Kossorotoff, M, Snoeck, I, Plessis, G, Parent, P, Beldjord, C, Cardoso, C, Represa, A, Flint, J, Keays, D, Cowan, N, Chelly, J

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. by Broix, L, Jagline, H, L Ivanova, E, Schmucker, S, Drouot, N, Clayton-Smith, J, Pagnamenta, A, Metcalfe, K, Isidor, B, Louvier, U, Poduri, A, Taylor, J, Tilly, P, Poirier, K, Saillour, Y, Lebrun, N, Stemmelen, T, Rudolf, G, Muraca, G, Saintpierre, B, Elmorjani, A, Deciphering Developmental Disorders study, Moïse, M, Weirauch, N, Guerrini, R, Boland, A, Olaso, R, Masson, C, Tripathy, R, Keays, D, Beldjord, C, Nguyen, L, Godin, J, Kini, U, Nischké, P, Deleuze, J, Bahi-Buisson, N, Sumara, I, Hinckelmann, M, Chelly, J

Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations by Tripathy, R, Leca, I, Van Dijk, T, Weiss, J, Van Bon, B, Sergaki, M, Gstrein, T, Breuss, M, Tian, G, Bahi-Buisson, N, Paciorkowski, A, Pagnamenta, A, Wenninger-Weinzierl, A, Martinez-Reza, M, Landler, L, Lise, S, Taylor, J, Terrone, G, Vitiello, G, Del Giudice, E, Brunetti-Pierri, N, D'Amico, A, Reymond, A, Voisin, N, Bernstein, J, Farrelly, E, Kini, U, Leonard, T, Valence, S, Burglen, L, Armstrong, L, Hiatt, S, Cooper, G, Aldinger, K, Dobyns, W, Mirzaa, G, Pierson, T, Baas, F, Chelly, J, Cowan, N, Keays, D

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria by Fry, AE, Fawcett, KA, Zelnik, N, Yuan, H, Thompson, BAN, Shemer-Meiri, L, Cushion, TD, Mugalaasi, H, Sims, D, Stoodley, N, Chung, S-K, Rees, MI, Patel, CV, Brueton, LA, Layet, V, Giuliano, F, Kerr, MP, Banne, E, Meiner, V, Lerman-Sagie, T, Helbig, KL, Kofman, LH, Knight, KM, Chen, W, Kannan, V, Hu, C, Kusumoto, H, Zhang, J, Swanger, SA, Shaulsky, GH, Mirzaa, GM, Muir, AM, Mefford, HC, Dobyns, WB, Mackenzie, AB, Mullins, JGL, Lemke, JR, Bahi-Buisson, N, Traynelis, SF, Iago, HF, Pilz, DT