Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). by Poirier, K, Keays, D, Francis, F, Saillour, Y, Bahi, N, Manouvrier, S, Fallet-Bianco, C, Pasquier, L, Toutain, A, Tuy, F, Bienvenu, T, Joriot, S, Odent, S, Ville, D, Desguerre, I, Goldenberg, A, Moutard, M, Fryns, J, van Esch, H, Harvey, R, Siebold, C, Flint, J, Beldjord, C, Chelly, J

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