Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Authors: Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban‐Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stéphanie Fox, Marjorie Withers, Stephanie Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria Alice Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard A. Lewis, Donna M. Muzny, Timothy Lotze, Eric Boerwinkle, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhaş, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski - The American Journal of Human Genetics 2016 cited by 192