CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D'Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C.M. Hennekam, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. PhadkeLuciana Rigoli, Stephane Romano, Carmelo D. Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil, Adnan Yuksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson, Padraic Grattan-Smith, Richard Leventer, Andreas Janecke, Rudy Van Coster, Karin Dias, Carla Moco, Ana Moreira, Ae Kim Chong, Gustavo Maegawa, Ghada M.H. Abdel-Salam, Alice Abdel-Aleem, Maha S. Zaki, Itxaso Marti, Susana Quijano-Roy, Pascale De Lonlay, Alain Verloes, Renaud Touraine, Michel Koenig, Clotilde Lagier-Tourenne, Jean Messer, Heike Philippi, Sofia Kitsiou Tzeli, Saevar Halldorsson, Jonina Johannsdottir, Peter Ludvigsson, Alex Magee, Dorit Lev, Marina Michelson, Bruria Ben-Zeev, Rita Fischetto, Mattia Gentile, Silvia Battaglia, Lucio Giordano, Loredana Boccone, Martino Ruggieri, Stefania Bigoni, Alessandra Ferlini, Maria Alice Donati, Elena Procopio, Gianluca Caridi, Francesca Faravelli, Gianmarco Ghiggeri, Silvana Briuglia, Gaetano Tortorella, Stefano D'Arrigo, Chiara Pantaleoni, Daria Riva, Graziella Uziel, Anna Maria Lavercla, Alberto Permunian, Stefania Bova, Roberta Battini, Maria Roberta Cilio, Marilù Di Sabato, Francesco Emma, Vincenzo Leuzzi, Pasquale Parisi, Alessandro Simonati, Asma A. Al-Tawari, Laila Bastaki, Ahmad Aqeel, Mirjam M. De Jong, Roshan Koul, Anna Rajab, Matloob Azam, Clara Barbot, Berta Rodriguez, Ignacio Pascual-Castroviejo, Sinan Comu, Mustafa Akcakus, David Nicholl, C. Geoffrey Woods, Christopher Bennett, Jane Hurst, Christopher A. Walsh, Saunder Bernes, Henry Sanchez, Aldon E. Clark, Clement Donahue, Jin Hahn, Terence D. Sanger, Tomas E. Gallager, William B. Dobyns, Cynthia Daugherty, Kalpathy S. Krishnamoorthy, Dean Sarco, Trudy McKanna, Joanne Milisa, Wendy K. Chung, Darryl C. De Vivo, Hillary Raynes, Romaine Schubert, Alison Seward, David G. Brooks, Amy Goldstein, James Caldwell, Eco Finsecke, Bernard L. Maria, Kenton Holden, Robert P. Cruse, Kathryn J. Swoboda

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Neuroscience

Biochemistry, Genetics and Molecular Biology