How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum od Banka, S, Veeramachaneni, R, Reardon, W, Howard, E, Bunstone, S, Ragge, N, Parker, M, Crow, Y, Kerr, B, Kingston, H, Metcalfe, K, Chandler, K, Magee, A, Stewart, F, McConnell, V, Donnelly, D, Berland, S, Houge, G, Morton, J, Oley, C, Revencu, N, Park, S, Davies, S, Fry, A, Lynch, SA

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome od 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

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients od Moortgat, S, Berland, S, Maystadt, I, Baker, I, Wilkie, A, Benoit, V, Caro-Llopis, A, Cooper, N, Debray, F, Faivre, L, Gardeitchik, T, Haukanes, B, Houge, G, Kivuva, E, Martinez, F, Mehta, S, Nassogne, M, Powell-Hamilton, N, Pfundt, R, Rosello, M, Prescott, T, Vasudevan, P, van Loon, B, Verellen-Dumoulin, C, Verloes, A, von der Lippe, C, Wakeling, E, Wilson, L, Yuen, A, Low, K, Newbury-Ecob, R