Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. by Stewart, DR, Huang, A, Faravelli, F, Anderlid, B, Medne, L, Ciprero, K, Kaur, M, Rossi, E, Tenconi, R, Nordenskjöld, M, Gripp, K, Nicholson, L, Meschino, W, Capua, E, Quarrell, O, Flint, J, Irons, M, Giampietro, P, Schowalter, D, Zaleski, C, Malacarne, M, Zackai, E, Spinner, N, Krantz, I

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