A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

- 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

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

- Hynes, Kim, Tarpey, Patrick, Haan, Eric, Turner, Gillian, Christodoulou, John, Leonard, Helen, Gill, Deepak, Stratton, Michael R., Gecz, Jozef, Scheffer, Ingrid E., Dibbens, Leanne M., Bayly, Marta A., Berkovic, Samuel F., Smith, Raffaella, Al Raisi, Zahyia, Turner, Samantha J., Brown, Natasha J., Desai, Tarishi D.

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

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