Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

著者: Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymańska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica E. Davis, Mario Mikula, Charles M. Strom, Bruria Ben‐Zeev, Dorit Lev, T. Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, J. Roume, Stavit A. Shalev, Arnold Münnich, Sophie Saunier, Chris F. Inglehearn, Ali Saâd, Adila Al‐Kindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson - Nature Genetics 2010 被引用: 285