Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma

por Richter, Suzanne, Vandezande, Kirk, Chen, Ning, Zhang, Katherine, Sutherland, Joanne, Anderson, Julie, Han, Liping, Panton, Rachel, Branco, Patricia, Gallie, Brenda
Publicado 2003

Eight previously unidentified mutations found in the OA1 ocular albinism gene

por Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc
Publicado 2006

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

por Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Publicado en Genet Med (2018)