CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Creator: 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.
- Resource Type: journal article
- Date: 2010
Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks
- Creator: Kerzendorfer, Claudia , Whibley, Annabel , Carpenter, Gillian , Outwin, Emily , Chiang, Shih-Chieh , Turner, Gillian , Schwartz, Charles , El-Khamisy, Sherif , Raymond, F. Lucy , O'Driscoll, Mark
- Resource Type: journal article
- Date: 2010
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- Creator: 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
- Resource Type: journal article
- Date: 2009
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
- Creator: 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
- Resource Type: journal article
- Date: 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: 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
- Resource Type: journal article
- Date: 2008