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

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

- Tarpey, Patrick S., Smith, Raffaella, Stephens, Phil, Blow, Matt, Greenman, Chris, Xue, Yali, Tyler-Smith, Chris, Thompson, Deborah, Gray, Kristian, Andrews, Jenny, Barthorpe, Syd, Buck, Gemma, Pleasance, Erin, Hackett, Anna, Whibley, Annabel, Edkins, Sarah, Hardy, Claire, O'Meara, Sarah, Latimer, Calli, Dicks, Ed, Menzies, Andrew

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

- Molinari, Florence, Foulquier, François, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian

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