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, WIlson, Meredith, Futreal, Andrew P., Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F. Lucy, Stratton, Micahel R., Licata, Andrea, Schwartz, Charles E., Abidi, Fatima E., Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E.

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, Tarpey, Patrick S., Hackett, Anna, Edkins, Sarah, Raymond, F. Lucy, Schwartz, Charles E., Turner, Gillian, Iwase, Shigeki, Shi, Yang

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

- Kerzendorfer, Claudia, Whibley, Annabel, Carpenter, Gillian, Outwin, Emily, Chiang, Shih-Chieh, Turner, Gillian, Schwartz, Charles, El-Khamisy, Sherif, Raymond, F. Lucy, O'Driscoll, Mark

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, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Roxrud, Ingrid, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

- Froyen, Guy, Corbett, Mark, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Vandewalle, Joke, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Jarvela, Irma, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde

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, Nevelsteen, Joke, Froyen, Guy, Stratton, Mike, Futreal, Andy, Gecz, Jozef, Stevenson, Roger, Schwartz, Charles E., Rumbaugh, Gavin, Valle, David, Huganir, Richard L., Wang, Tao, Srivastava, Anand K., Turner, Gillian, Hayashi, Takashi, Suzuki, Erika, Jiang, Yuwu, Zhang, Lilei, Rodriguez, Jayson