换一批
换一批Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
作者：
Dong,Li [1]
;
Qin,Wang [2]
;
Naihua N,Gong [3]
;
Alina,Kurolap [4]
;
Hagit Baris,Feldman [5]
;
Nikolas,Boy [6]
;
Melanie,Brugger [7]
;
Katheryn,Grand [8]
;
Kirsty,McWalter [9]
;
Maria J,Guillen Sacoto [9]
;
Emma,Wakeling [10]
;
Jane,Hurst [10]
;
Michael E,March [11]
;
Elizabeth J,Bhoj [11]
;
Małgorzata J M,Nowaczyk [12]
;
Claudia,Gonzaga-Jauregui [13]
;
Mariam,Mathew [14]
;
Ashita,Dava-Wala [14]
;
Amy,Siemon [15]
;
Dennis,Bartholomew [15]
;
Yue,Huang [16]
;
Hane,Lee [17]
;
Julian A,Martinez-Agosto [16]
;
Eva M C,Schwaibold [17]
;
Theresa,Brunet [18]
;
Daniela,Choukair [19]
;
Lynn S,Pais [20]
;
Susan M,White [21]
;
John,Christodoulou [21]
;
Dana,Brown [22]
;
Kristin,Lindstrom [22]
;
Theresa,Grebe [23]
;
Dov,Tiosano [24]
;
Matthew S,Kayser [3]
;
Tiong Yang,Tan [21]
;
Matthew A,Deardorff [25]
;
Yuanquan,Song [26]
;
Hakon,Hakonarson [27]
作者单位：
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu.
[1]
Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[2]
Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
[3]
The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
[4]
The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.;Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[5]
Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
[6]
Institute of Human Genetics, Technical University Munich, Munich, Germany.;Institute of Human Genetics, University Hospital LMU Munich, Goethestr. 29, Munich, Germany.
[7]
Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
[8]
GeneDx, Gaithersburg, MD, USA.
[9]
North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
[10]
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[11]
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
[12]
Regeneron Genetics Center, Tarrytown, New York, NY, USA.
[13]
Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
[14]
Department of Pediatrics and Clinical Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
[15]
Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
[16]
Department of Pathology and Laboratory Medicine; Department of Human Genetics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
[17]
Institute of Human Genetics, Technical University Munich, Munich, Germany.
[18]
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.
[19]
Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
[20]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, Australia.
[21]
Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
[22]
Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.;College of Medicine, University of Arizona, Phoenix, 475 N. 5th Street, Phoenix, AZ, USA.
[23]
Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, Haifa, Israel.;The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
[24]
Departments of Pathology and Pediatrics, Children's Hospital Los Angeles, and University of Southern California, Los Angeles, CA, USA.
[25]
Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu.;Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[26]
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
[27]
DOI
10.1126/sciadv.abf2066
PMID
33980485
发布时间
2024-12-05
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Science advances
Science advances
2021年7卷20期
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