A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
- Creator: Kumar, Raman , Ha, Thuong , Pham, Duyen , Shaw, Marie , Mangelsdorf, Marie , Friend, Kathryn L. , Hobson, Lynne , Turner, Gillian , Boyle, Jackie , Field, Michael , Hackett, Anna , Corbett, Mark , Gecz, Jozef
- Resource Type: journal article
- Date: 2016
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
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 ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
- Creator: 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
- Resource Type: journal article
- Date: 2007