The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage. by Donnai, D, Clayton-Smith, J, Gibbons, R, Higgs, D

Screening for subtelomeric chromosome deletions in children with idiopathic mental retardation by Slavotinek, A, Knight, S, Tassabehji, M, ClaytonSmith, J, Kingston, H, Gaunt, L, Flint, J, Donnai, D

The detection of submicroscopic chromosome rearrangements in children with idiopathic mental retardation and physical differences by Slavotinek, A, Rosenberg, M, Knight, S, Fergusson, W, Gaunt, L, Clayton-Smith, J, Kingston, H, Flint, J, Biesecker, L, Donnai, D

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). by Gibbons, R, Brueton, L, Buckle, V, Burn, J, Clayton-Smith, J, Davison, B, Gardner, R, Homfray, T, Kearney, L, Kingston, H

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. by Slavotinek, A, Rosenberg, M, Knight, S, Gaunt, L, Fergusson, W, Killoran, C, Clayton-Smith, J, Kingston, H, Campbell, R, Flint, J, Donnai, D, Biesecker, L

RAC1 missense mutations in developmental disorders with diverse phenotypes by Reijnders, MRF, Ansor, NM, Kousi, M, Yue, WW, Tan, PL, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, JR, Lam, WWK, Mancini, GMS, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chitayat, D, Millard, TH, Katsanis, N, Brunner, HG, Banka, S

A recurrent mosaic mutation of SMO, encoding the hedgehog signal transducer Smoothened, is the major cause of Curry-Jones syndrome by Twigg, S, Wilkie, A, Hufnagel, R, Miller, K, Zhou, Y, McGowan, S, Taylor, J, Craft, J, Taylor, J, Santoro, S, Huang, T, Hopkin, R, Brady, A, Clayton-Smith, J, Clericuzio, C, Grange, D, Groesser, L, Hafner, C, Horn, D, Temple, I, Dobyns, W, Curry, C, Jones, M, Wilkie, A

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. by Mefford, H, Sharp, A, Baker, C, Itsara, A, Jiang, Z, Buysse, K, Huang, S, Maloney, V, Crolla, J, Baralle, D, Collins, A, Mercer, C, Norga, K, de Ravel, T, Devriendt, K, Bongers, E, de Leeuw, N, Reardon, W, Gimelli, S, Bena, F, Hennekam, R, Male, A, Gaunt, L, Clayton-Smith, J, Simonic, I

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. by Conti, V, Carabalona, A, Pallesi-Pocachard, E, Parrini, E, Leventer, R, Buhler, E, McGillivray, G, Michel, F, Striano, P, Mei, D, Watrin, F, Lise, S, Pagnamenta, A, Taylor, J, Kini, U, Clayton-Smith, J, Novara, F, Zuffardi, O, Dobyns, W, Scheffer, I, Robertson, S, Berkovic, S, Represa, A, Keays, D, Cardoso, C

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. by Hennies, H, Kornak, U, Zhang, H, Egerer, J, Zhang, X, Seifert, W, Kühnisch, J, Budde, B, Nätebus, M, Brancati, F, Wilcox, W, Müller, D, Kaplan, P, Rajab, A, Zampino, G, Fodale, V, Dallapiccola, B, Newman, W, Metcalfe, K, Clayton-Smith, J, Tassabehji, M, Steinmann, B, Barr, F, Nürnberg, P, Wieacker, P

Mutations in the BAF-complex subunit DPF2 associated with Coffin-Siris syndrome by Vasileiou, G, Vergarajauregui, S, Endele, S, Popp, B, Büttner, C, Ekici, AB, Gerard, M, Bramswig, NC, Albrecht, B, Clayton-Smith, J, Morton, J, Tomkins, S, Low, K, Weber, A, Wenzel, M, Altmüller, J, Li, Y, Wollnik, B, Hoganson, G, Plona, MR, Cho, MT, Thiel, CT, Lüdecke, HJ, Strom, TM, Calpena, E, Wilkie, AOM, Wieczorek, D, Engel, FB, Reis, A

Clinical and molecular consequences of disease-associated de novo mutations in SATB2 by Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, S, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnugn, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, UK10K Consortium, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, M, Firth, H, Raymond, F, Kini, U, Nellaker, C, DDD Study, FitzPatrick, D

Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia by Gorman, KM, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, KJ, Bryant, E, Reich, A, Schneider, AL, Pressler, RM, Simpson, MA, Debelle, GD, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, AR, King, MD, Cross, JH, Poduri, A, Mefford, HC, Scheffer, IE, Haack, TB, McCullagh, G, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Rue-Albrecht, K, Millichap, JJ, Carvill, GL, Clayton-Smith, J, Maher, ER, Raymond, FL, Kurian, MA

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. by Broix, L, Jagline, H, L Ivanova, E, Schmucker, S, Drouot, N, Clayton-Smith, J, Pagnamenta, A, Metcalfe, K, Isidor, B, Louvier, U, Poduri, A, Taylor, J, Tilly, P, Poirier, K, Saillour, Y, Lebrun, N, Stemmelen, T, Rudolf, G, Muraca, G, Saintpierre, B, Elmorjani, A, Deciphering Developmental Disorders study, Moïse, M, Weirauch, N, Guerrini, R, Boland, A, Olaso, R, Masson, C, Tripathy, R, Keays, D, Beldjord, C, Nguyen, L, Godin, J, Kini, U, Nischké, P, Deleuze, J, Bahi-Buisson, N, Sumara, I, Hinckelmann, M, Chelly, 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