Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre s... by Postema, FAM, Hopman, SMJ, de Borgie, CAMJ, Hammond, P, Hennekam, RC, Merks, JHM, TuPS study group

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

A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall-Smith syndrome by Kooblall, KG, Stevenson, M, Stewart, M, Harris, L, Zalucki, O, Dewhurst, H, Butterfield, N, Leng, H, Hough, TA, Ma, D, Siow, B, Potter, P, Cox, RD, Brown, SDM, Horwood, N, Wright, B, Lockstone, H, Buck, D, Vincent, TL, Hannan, FM, Bassett, JHD, Williams, GR, Lines, KE, Piper, M, Wells, S, Teboul, L, Hennekam, RC, Thakker, RV