换一批De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
第一作者：
Weng, Patricia L.
作者：
Weng, Patricia L. [1]
;
Majmundar, Amar J. [2]
;
Khan, Kamal [3]
;
Lim, Tze Y. [4]
;
Shril, Shirlee [5]
;
Jin, Gina [6]
;
Musgrove, John [7]
;
Wang, Minxian [8]
;
Ahram, Dina F. [9]
;
Aggarwal, Vimla S. [10]
;
Bier, Louise E. [11]
;
Heinzen, Erin L. [12]
;
Onuchic-Whitford, Ana C. [13]
;
Mann, Nina [14]
;
Buerger, Florian [15]
;
Schneider, Ronen [16]
;
Deutsch, Konstantin [17]
;
Kitzler, Thomas M. [18]
;
Klambt, Verena [19]
;
Kolb, Amy [20]
;
Mao, Youying [21]
;
El Achkar, Christelle Moufawad [22]
;
Mitrotti, Adele [23]
;
Martino, Jeremiah [24]
;
Beck, Bodo B. [25]
;
Altmuller, Janine [26]
;
Benz, Marcus R. [27]
;
Yano, Shoji [28]
;
Mikati, Mohamad A. ;
Gunduz, Talha ;
Cope, Heidi ;
Shashi, Vandana ;
Trachtman, Howard ;
Bodria, Monica ;
Caridi, Gianluca ;
Pisani, Isabella ;
Fiaccadori, Enrico ;
AbuMaziad, Asmaa S. ;
Martinez-Agosto, Julian A. ;
Yadin, Ora ;
Zuckerman, Jonathan ;
Kim, Arang ;
John-Kroegel, Ulrike ;
Tyndall, Amanda, V ;
Parboosingh, Jillian S. ;
Innes, A. Micheil ;
Bierzynska, Agnieszka ;
Koziell, Ania B. ;
Muorah, Mordi ;
Saleem, Moin A. ;
Hoefele, Julia ;
Riedhammer, Korbinian M. ;
Gharavi, Ali G. ;
Jobanputra, Vaidehi ;
Pierce-Hoffman, Emma ;
Seaby, Eleanor G. ;
O'Donnell-Luria, Anne ;
Rehm, Heidi L. ;
Mane, Shrikant ;
D'Agati, Vivette D. ;
Pollak, Martin R. ;
Ghiggeri, Gian Marco ;
Lifton, Richard P. ;
Goldstein, David B. ;
Davis, Erica E. ;
Hildebrandt, Friedhelm ;
Sanna-Cherchi, Simone ;
Undiagnosed Dis Network ;
UCLA Clinical Genomics Ctr
作者单位：
Dept Neurol,Boston Childrens Hosp
[1]
Div Nephrol,Columbia Univ
[2]
Fac Med,Univ Cologne
[3]
Univ Hosp Cologne,Univ Cologne
[4]
Pediat Nephrol Dachau
[5]
Keck Sch Med,Univ Southern Calif
[6]
Med Ctr,Duke Univ
[7]
Div Pediat Nephrol,Univ Calif Los Angeles
[8]
Dept Pediat,Boston Childrens Hosp
[9]
Ctr Dis Modeling,Duke Univ
[10]
Cardiovasc Dis Initiat,Broad Inst MIT & Harvard
[11]
Inst Genom Med,Columbia Univ
[12]
Pediat Nephrol,Univ Childrens Hosp
[13]
Cumming Sch Med,Univ Calgary
[14]
Dept Pediat,New York Univ Langone Hlth
[15]
Ist Ricovero & Cura Carattere Sci,Ist Giannina Gaslini
[16]
Azienda Osped Univ Parma,Univ Parma
[17]
Div Pediat Nephrol,Univ Arizona
[18]
Div Med Genet,Univ Calif Los Angeles
[19]
Dept Pathol & Lab Med,Univ Calif Los Angeles
[20]
Bristol Renal,Univ Bristol
[21]
Dept Paediat Nephrol,Evelina London
[22]
Renal Unit,Birmingham Childrens Hosp
[23]
Sch Med,Tech Univ Munich
[24]
Dept Pathol & Cell Biol,Columbia Univ
[25]
Broad Ctr Mendelian Genet,Broad Inst MIT & Harvard
[26]
Sch Med,Yale Univ
[27]
Beth Israel Deaconess Med Ctr,Harvard Med Sch
[28]
发布时间
2022-12-22
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