换一批
换一批Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
作者：
Harel, Tamar [1]
;
Yoon, Wan Hee [2]
;
Garone, Caterina [3]
;
Gu, Shen [4]
;
Coban-Akdemir, Zeynep [5]
;
Eldomery, Mohammad K. [6]
;
Posey, Jennifer E. [7]
;
Jhangiani, Shalini N. [8]
;
Rosenfeld, Jill A. [9]
;
Cho, Megan T. [10]
;
Fox, Stephanie [11]
;
Withers, Marjorie [12]
;
Brooks, Stephanie M. [13]
;
Chiang, Theodore [14]
;
Duraine, Lita [15]
;
Erdin, Serkan [16]
;
Yuan, Bo [17]
;
Shao, Yunru [18]
;
Moussallem, Elie [19]
;
Lamperti, Costanza ;
Donati, Maria A. ;
Smith, Joshua D. ;
McLaughlin, Heather M. ;
Eng, Christine M. ;
Walkiewicz, Magdalena ;
Xia, Fan ;
Pippucci, Tommaso ;
Magini, Pamela ;
Seri, Marco ;
Zeviani, Massimo ;
Hirano, Michio ;
Hunter, Jill V. ;
Srour, Myriam ;
Zanigni, Stefano ;
Lewis, Richard Alan ;
Muzny, Donna M. ;
Lotze, Timothy E. ;
Boerwinkle, Eric ;
Gibbs, Richard A. ;
Hickey, Scott E. ;
Graham, Brett H. ;
Yang, Yaping ;
Buhas, Daniela ;
Martin, Donna M. ;
Potocki, Lorraine ;
Graziano, Claudio ;
Bellen, Hugo J. ;
Lupski, James R.
作者单位：
Univ Bologna, Med Genet Unit, Policlin St Orsola Malpighi, I-40138 Bologna, Italy
[1]
Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
[2]
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
[3]
Univ Michigan, Dept Pediat & Communicable Dis, Ann Arbor, MI 48109 USA
[4]
Ohio State Univ, Dept Pediat, Coll Med, Div Mol & Human Genet,Nationwide Childrens Hosp, Columbus
[5]
MRC Mitochondrial Biol Unit, Cambridge CB2 OXY, England
[6]
McGill Univ, Dept Pediat Neurol & Neurosurg, Montreal, PQ H4A 3J1, Canada
[7]
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[8]
GeneDx, Gaithersburg, MD 20877 USA
[9]
Montreal Childrens Hosp, Med Genet Dept, Montreal, PQ H4A 3J1, Canada
[10]
Univ Bologna, Dept Med & Surg Sci, Med Genet Unit, I-40138 Bologna, Italy
[11]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[12]
St Orsola Marcello Malpighi Hosp, Funct MR Unit, I-40138 Bologna, Italy
[13]
Texas Childrens Hosp, Houston, TX 77030 USA
[14]
Texas Childrens Hosp, Dept Pediat Radiol, Houston, TX 77030 USA
[15]
Fdn Carlo Besta Inst Neurol IRCCS, Unit Mol Neurogenet, I-20126 Milan, Italy
[16]
Baylor Coll Med, Dept Mol & Human Genet, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
[17]
Univ Florence, Meyer Childrens Hosp, Metab & Muscular Unit, I-50132 Florence, Italy
[18]
Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USA
[19]
发布时间
2017-05-11
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The American Journal of Human Genetics
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