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

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