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PreviewIssue DateTitleAuthor(s)
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2008Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMolinari, F.; Foulquier, F.; Tarpey, P.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.; Stratton, M.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
2003Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationKalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J.
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, 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.; et al.