Phenotype and natural history in Marshall-Smith syndrome. by Shaw, A, van Balkom, I, Bauer, M, Cole, T, Delrue, M, Van Haeringen, A, Holmberg, E, Knight, S, Mortier, G, Nampoothiri, S, Pušeljić, S, Zenker, M, Cormier-Daire, V, Hennekam, R

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. by Douglas, J, Cilliers, D, Coleman, K, Tatton-Brown, K, Barker, K, Bernhard, B, Burn, J, Huson, S, Josifova, D, Lacombe, D, Malik, M, Mansour, S, Reid, E, Cormier-Daire, V, Cole, T, Rahman, N

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum by Palmer, EE, Whitton, C, Hashem, MO, Clark, RD, Ramanathan, S, Starr, LJ, Velasco, D, De Dios, JK, Singh, E, Cormier‐Daire, V, Chopra, M, Rodan, LH, Nellaker, C, Lakhani, S, Mallack, EJ, Panzer, K, Sidhu, A, Wentzensen, IM, Lacombe, D, Michaud, V, Alkuraya, FS

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline by Wood, KA, Tong, RS, Motta, M, Cordeddu, V, Scimone, ER, Bush, SJ, Maxwell, D, Gianoulatou, E, Caputo, V, Traversa, A, Mancini, C, Ferrero, GB, Benedicenti, F, Grammatico, P, Melis, D, Steindl, K, Brunetti-Pierri, N, Trevisson, E, Wilkie, AOM, Lin, AE, Cormier-Daire, V, Twigg, SRF, Tartaglia, M, Goriely, A

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome by Chen, Y, Grigelioniene, G, Newton, P, Gullander, J, Elfving, M, Hammarsjö, A, Batkovskyte, D, Alsaif, H, Kurdi, W, Abdulwahab, F, Shanmugasundaram, V, Devey, L, Bacrot, S, Brodszki, J, Huber, C, Hamel, B, Gisselsson, D, Papadogiannakis, N, Jedrycha, K, Gürtl-Lackner, B, Chagin, A, Nishimura, G, Aschenbrenner, D, Alkuraya, F, Laurence, A, Cormier-Daire, V, Uhlig, H

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. by de Beaucoudrey, L, Puel, A, Filipe-Santos, O, Cobat, A, Ghandil, P, Chrabieh, M, Feinberg, J, von Bernuth, H, Samarina, A, Jannière, L, Fieschi, C, Stéphan, J, Boileau, C, Lyonnet, S, Jondeau, G, Cormier-Daire, V, Le Merrer, M, Hoarau, C, Lebranchu, Y, Lortholary, O, Chandesris, M, Tron, F, Gambineri, E, Bianchi, L, Rodriguez-Gallego, C