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

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution by Mirzaa, G, Timms, A, Conti, V, Boyle, E, Girisha, K, Martin, B, Kircher, M, Olds, C, Juusola, J, Collins, S, Park, K, Carter, M, Glass, I, Krägeloh-Mann, I, Chitayat, D, Parikh, A, Bradshaw, R, Torti, E, Braddock, S, Burke, L, Ghedia, S, Stephan, M, Stewart, F, Prasad, C, Napier, M, Saitta, S, Straussberg, R, Gabbett, M, O'Connor, B, Keegan, C, Yin, L, Lai, A, Martin, N, McKinnon, M, Addor, M, Boccuto, L, Schwartz, C, Lanoel, A, Conway, R, Devriendt, K, Tatton-Brown, K, Pierpont, M, Painter, M, Worgan, L, Reggin, J, Hennekam, R, Tsuchiya, K, Pritchard, C, Aracena, M, Gripp, K, Cordisco, M, Esch, H, Garavelli, L, Curry, C, Goriely, A, Kayserilli, H, Shendure, J, Graham, J, Guerrini, R, Dobyns, W