De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
作者:
Sacoto, Maria J. Guillen [1]
;
Tchasovnikarova, Iva A. [2]
;
Torti, Erin [3]
;
Forster, Cara [4]
;
Andrew, E. Hallie [5]
;
Anselm, Irina [6]
;
Baranano, Kristin W. [7]
;
Briere, Lauren C. [8]
;
Cohen, Julie S. [9]
;
Craigen, William J. [10]
;
Cytrynbaum, Cheryl [11]
;
Ekhilevitch, Nina [12]
;
Elrick, Matthew J. [13]
;
Fatemi, Ali [14]
;
Fraser, Jamie L. [15]
;
Gallagher, Renata C. [16]
;
Guerin, Andrea [17]
;
Haynes, Devon [18]
;
High, Frances A. [19]
;
Inglese, Cara N. [20]
;
Kiss, Courtney [21]
;
Koenig, Mary Kay [22]
;
Krier, Joel [23]
;
Lindstrom, Kristin [24]
;
Marble, Michael [25]
;
Meddaugh, Hannah [26]
;
Moran, Ellen S. [27]
;
Morel, Chantal F. ;
Mu, Weiyi ;
Muller, Eric A., II ;
Nance, Jessica ;
Natowicz, Marvin R. ;
Numis, Adam L. ;
Ostrem, Bridget ;
Pappas, John ;
Stafstrom, Carl E. ;
Streff, Haley ;
Sweetser, David A. ;
Szybowska, Marta ;
Walker, Melissa A. ;
Wang, Wei ;
Weiss, Karin ;
Weksberg, Rosanna ;
Wheeler, Patricia G. ;
Yoon, Grace ;
Kingston, Robert E. ;
Juusola, Jane
作者单位:
Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD 21287 USA
[1]
Stanford Childrens Hlth, Clin Genet, San Francisco, CA 94109 USA
[2]
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA
[3]
Arnold Palmer Hosp Children, Div Genet, Orlando Hlth, Orlando, FL 32806 USA
[4]
Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Sch Med, Baltimore, MD 21287 USA
[5]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[6]
Childrens Natl Hosp, Rare Dis Inst, Myelin Disorders Program, Washington, DC 20010 USA
[7]
Queens Univ, Dept Pediat, Div Med Genet, Kingston, ON K7L 2V7, Canada
[8]
Cleveland Clin, Inst Pathol & Lab Med, Cleveland, OH 44195 USA
[9]
Massachusetts Gen Hosp, Dept Med Genet & Metab, Boston, MA 02114 USA
[10]
LSU Hlth Sci Ctr, Dept Pediat, Div Clin Genet & Metab, New Orleans, LA 70112 USA
[11]
NYU, Langone Orthoped Hosp, Hassenfeld Childrens Hosp, New York Univ Langone, New York, NY 10003 USA
[12]
Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
[13]
Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94158 USA
[14]
Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
[15]
Massachusetts Gen Hosp, Dept Neurol, Div Neurogenet, Boston, MA 02114 USA
[16]
GeneDx Inc, Gaithersburg, MD 20877 USA
[17]
Univ Texas Houston, Dept Pediat, McGovern Med Sch, Houston, TX 77030 USA
[18]
Genet Inst Inc, Rambam Hlth Care Campus, IL-3109601 Haifa, Israel
[19]
Univ Hlth Network, Fred A Litwin Family Ctr Genet Med, Toronto, ON M5T 3L9, Canada
[20]
NYU, Clin Genet Serv, Pediat, Grossman Sch Med, New York, NY 10016 USA
[21]
Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA
[22]
Brigham & Womens Hosp, Dept Med, Div Genet, 75 Francis St, Boston, MA 02115 USA
[23]
Univ Calif San Francisco, Dept Neurol & Pediat, San Francisco, CA 94158 USA
[24]
Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada
[25]
Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ 85016 USA
[26]
Childrens Hosp New Orleans, Dept Clin Genet & Metab, New Orleans, LA 70118 USA
[27]
发布时间
2021-04-24
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The American Journal of Human Genetics
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