GATA3 haplo-insufficiency causes human HDR syndrome. by Van Esch, H, Groenen, P, Nesbit, M, Schuffenhauer, S, Lichtner, P, Vanderlinden, G, Harding, B, Beetz, R, Bilous, R, Holdaway, I, Shaw, N, Fryns, J, Van de Ven, W, Thakker, R, Devriendt, K

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). by Poirier, K, Keays, D, Francis, F, Saillour, Y, Bahi, N, Manouvrier, S, Fallet-Bianco, C, Pasquier, L, Toutain, A, Tuy, F, Bienvenu, T, Joriot, S, Odent, S, Ville, D, Desguerre, I, Goldenberg, A, Moutard, M, Fryns, J, van Esch, H, Harvey, R, Siebold, C, Flint, J, Beldjord, C, Chelly, J

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcrip... by Ali, A, Christie, P, Grigorieva, I, Harding, B, Van Esch, H, Ahmed, S, Bitner-Glindzicz, M, Blind, E, Bloch, C, Christin, P, Clayton, P, Gecz, J, Gilbert-Dussardier, B, Guillen-Navarro, E, Hackett, A, Halac, I, Hendy, G, Lalloo, F, Mache, C, Mughal, Z, Ong, A, Rinat, C, Shaw, N, Smithson, S, Tolmie, J

Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative by Nellåker, C, Alkuraya, FS, Baynam, G, Bernier, RA, Bernier, FPJ, Boulanger, V, Brudno, M, Brunner, HG, Clayton-Smith, J, Cogné, B, Dawkins, HJS, Devries, BBA, Douzgou, S, Dudding-Byth, T, Eichler, EE, Ferlaino, M, Fieggen, K, Firth, HV, Fitzpatrick, DR, Gration, D, Groza, T, Haendel, M, Hallowell, N, Hamosh, A, Hehir-Kwa, J, Hitz, M-P, Hughes, M, Kini, U, Kleefstra, T, Kooy, RF, Krawitz, P, Küry, S, Lees, M, Lyon, GJ, Lyonnet, S, Marcadier, JL, Meyn, S, Moslerová, V, Politei, JM, Poulton, CC, Raymond, FL, Reijnders, MRF, Robinson, PN, Romano, C, Rose, CM, Sainsbury, DCG, Schofield, L, Sutton, VR, Turnovec, M, Van Dijck, A, Van Esch, H, Wilkie, AOM