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PreviewIssue DateTitleAuthor(s)
2007Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyField, M.; Tarpey, P.; Smith, R.; Edkins, S.; O'Meara, S.; Stevens, C.; Tofts, C.; Teague, J.; Butler, A.; Dicks, E.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; Mironenko, T.; et al.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
2010Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityShoubridge, C.; Tarpey, P.; Abidi, F.; Ramsden, S.; Rujirabanjerd, S.; Murphy, J.; Boyle, J.; Shaw, M.; Gardner, A.; Proos, A.; Puusepp, H.; Raymond, F.; Schwartz, C.; Stevenson, R.; Turner, G.; Field, M.; Walikonis, R.; Harvey, R.; Hackett, A.; Futreal, P.; et al.