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PreviewIssue DateTitleAuthor(s)
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.
2007Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansWu, Y.; Arai, A.; Rumbaugh, G.; Srivastava, A.; Turner, G.; Hayashi, T.; Suzuki, E.; Jiang, Y.; Zhang, L.; Rodriguez, J.; Boyle, J.; Tarpey, P.; Raymond, F.; Nevelsteen, J.; Froyen, G.; Stratton, M.; Futreal, P.; Gecz, J.; Stevenson, R.; Schwartz, C.; et al.
2010CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesHackett, A.; Tarpey, P.; Licata, A.; Cox, J.; Whibley, A.; Boyle, J.; Rogers, C.; Grigg, J.; Partington, M.; Stevenson, R.; Tolmie, J.; Yates, J.; Turner, G.; Wilson, M.; Futreal, P.; Corbett, M.; Shaw, M.; Gecz, J.; Raymond, F.; Stratton, M.
2010Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationRujirabanjerd, S.; Nelson, J.; Tarpey, P.; Hackett, A.; Edkins, S.; Raymond, F.; Schwartz, C.; Turner, G.; Iwase, S.; Shi, Y.; Futreal, P.; Stratton, M.; Gecz, J.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.