换一批
换一批Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
作者：
Wright, Caroline F. [1]
;
Quaife, Nicholas M. [2]
;
Ramos-Hernandez, Laura [3]
;
Danecek, Petr [4]
;
Ferla, Matteo P. [5]
;
Samocha, Kaitlin E. [6]
;
Kaplanis, Joanna [7]
;
Gardner, Eugene J. [8]
;
Eberhardt, Ruth Y. [9]
;
Chao, Katherine R. [10]
;
Karczewski, Konrad J. [11]
;
Morales, Joannella [12]
;
Gallone, Giuseppe [13]
;
Balasubramanian, Meena [14]
;
Banka, Siddharth [15]
;
Gompertz, Lianne [16]
;
Kerr, Bronwyn [17]
;
Kirby, Amelia [18]
;
Lynch, Sally A. ;
Morton, Jenny E., V ;
Pinz, Hailey ;
Sansbury, Francis H. ;
Stewart, Helen ;
Zuccarelli, Britton D. ;
Cook, Stuart A. ;
Taylor, Jenny C. ;
Juusola, Jane ;
Retterer, Kyle ;
Firth, Helen, V ;
Hurles, Matthew E. ;
Lara-Pezzi, Enrique ;
Barton, Paul J. R. ;
Whiffin, Nicola ;
Genomics England Res Consortium
作者单位：
Sch Biol Sci,Univ Manchester
[1]
Dept Pediat,Wake Forest Sch Med
[2]
UCD Acad Ctr Rare Dis,Univ Coll Dublin
[3]
West Midlands Reg Clin Genet Serv,Birmingham Womens & Childrens Hosp NHS Fdn Trust
[4]
Dept Pediat,St Louis Univ
[5]
Univ Hosp Wales,NHS Wales Cardiff & Vale Univ Hlth Board
[6]
Oxford Ctr Genom Med,Oxford Univ Hosp NHS Fdn Trust
[7]
Dept Neurol,Univ Kansas
[8]
Natl Heart & Lung Inst,Imperial Coll London
[9]
Wellcome Ctr Human Genet,Univ Oxford
[10]
GeneDx
[11]
Human Genet Programme,Wellcome Sanger Inst
[12]
Ctr Nacl Invest Cardiovasc Carlos III CNIC
[13]
Inst Biomed & Clin Sci,Univ Exeter
[14]
Analyt & Translat Genet Unit,Massachusetts Gen Hosp
[15]
European Bioinformat Inst EMBL EBI,European Mol Biol Lab
[16]
Sheffield Clin Genet Serv,Sheffield Childrens NHS Fdn Trust
[17]
Manchester Ctr Genom Med,Manchester Univ Hosp NHS Fdn Trust
[18]
发布时间
2022-10-29
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