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

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Published in Nat Genet on May 30, 2010

Authors

Enza Maria Valente1, 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 Szymanska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C Tolentino, Dominika Swistun, Carmelo D 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, Tally Lerman Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, Joelle Roume, Stavit Shalev, Arnold Munnich, Sophie Saunier, Chris Inglehearn, Ali Saad, Adila Alkindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A Johnson, Tania Attié-Bitach, Joseph G Gleeson

Author Affiliations

1: Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. e.valente@css-mendel.it

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