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Title Author/Creator Date Full Text Reviewed
Add CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Hackett, Anna; Tarpey, Patrick S.; Tolmie, John; Yates, John R. W.; Turner, Gillian... More 2010 — Reviewed
Add Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families Hynes, Kim; Tarpey, Patrick; Haan, Eric; Turner, Gillian; Christodoulou, John... More 2010 — Reviewed
Add Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation Rujirabanjerd, Sinitdhorn; Nelson, John; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef... More 2010 — Reviewed
Add A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family Burdon, Kathryn P.; Durkin, Shane R.; Burke, Mary; Edwards, Matthew; Pater, John... More 2009 — Reviewed
Add Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation Molinari, Florence; Foulquier, François; Matthijs, Gert; Gecz, Jozef; Munnich, Arnold... More 2008 — Reviewed
Add SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome Gilfillan, Gregor D.; Selmer, Kaja K.; Sjøholm, Hans; Server, Andres; Samuelsson, Lena... More 2008 — Reviewed
Add Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans Wu, Ye; Arai, Amy C.; Boyle, Jackie; Tarpey, Patrick; Raymond, F. Lucy... More 2007 — Reviewed
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