Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development by Ceroni, F, Cicekdal, MB, Holt, R, Sorokina, E, Chassaing, N, Clokie, S, Naert, T, Talbot, LV, Muheisen, S, Bax, DA, Kesim, Y, Kivuva, EC, Vincent-Delorme, C, Lienkamp, SS, Plaisancié, J, De Baere, E, Calvas, P, Vleminckx, K, Semina, EV, Ragge, NK

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome by Menke, LA, Gardeitchik, T, Hammond, P, Heimdal, KR, Houge, G, Hufnagel, SB, Ji, J, Johansson, S, Kant, SG, Kinning, E, Leon, EL, Newbury-Ecob, R, Paolacci, S, Pfundt, R, Ragge, NK, Rinne, T, Ruivenkamp, C, Saitta, SC, Sun, Y, Tartaglia, M, Terhal, PA, van Essen, AJ, Vigeland, MD, Xiao, B, Hennekam, RC