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

TitleRecurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Publication TypeJournal Article
AuthorsHarel, T, Yoon, WHee, Garone, C, Gu, S, Coban-Akdemir, Z, Eldomery, MK, Posey, JE, Jhangiani, SN, Rosenfeld, JA, Cho, MT, Fox, S, Withers, M, Brooks, SM, Chiang, T, Duraine, L, Erdin, S, Yuan, B, Shao, Y, Moussallem, E, Lamperti, C, Donati, MA, Smith, JD, McLaughlin, HM, Eng, CM, Walkiewicz, M, Xia, F, Pippucci, T, Magini, P, Seri, M, Zeviani, M, Hirano, M, Hunter, JV, Srour, M, Zanigni, S, Lewis, RAlan, Muzny, DM, Lotze, TE, Boerwinkle, E, Gibbs, RA, Hickey, SE, Graham, BH, Yang, Y, Buhas, D, Martin, DM, Potocki, L, Graziano, C, Bellen, HJ, Lupski, JR
Corporate AuthorsBaylor-Hopkins Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics
PubMed ID27640307
PubMed Central IDPMC5065660
Grant ListMC_UP_1002/1 / / Medical Research Council / United Kingdom
U54 HG006542 / HG / NHGRI NIH HHS / United States
T32 GM007526 / GM / NIGMS NIH HHS / United States
R01 DC009410 / DC / NIDCD NIH HHS / United States
U54 HD083092 / HD / NICHD NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States
R01 NS058529 / NS / NINDS NIH HHS / United States
U54 NS093793 / NS / NINDS NIH HHS / United States