Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability-Reference-Cited by-同舟云学术

Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability

Published:2017-07-10 Issue:10 Volume:38 Page:1365-1371
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Marom Ronit¹,Jain Mahim¹,Burrage Lindsay C.¹,Song I-Wen¹,Graham Brett H.¹,Brown Chester W.²,Stevens Servi J.C.³,Stegmann Alexander P.A.³,Gunter Andrew T.⁴,Kaplan Julie D.⁴,Gavrilova Ralitza H.⁵⁶,Shinawi Marwan⁷,Rosenfeld Jill A.¹,Bae Yangjin¹,Tran Alyssa A.¹,Chen Yuqing¹,Lu James T.⁸,Gibbs Richard A.¹⁹,Eng Christine¹,Yang Yaping¹,Rousseau Justine¹⁰,de Vries Bert B.A.¹¹,Campeau Philippe M.¹⁰,Lee Brendan¹

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Department of Pediatrics/Genetics Division; University of Tennessee Health Science Center Memphis; Memphis Tennessee

3. Department of Human Genetics; Maastricht University Hospital; Maastricht The Netherlands

4. Department of Pediatrics; Division of Medical Genetics; University of Mississippi Medical Center; Jackson Mississippi

5. Department of Medical Genetics; Mayo Clinic; Rochester Minnesota

6. Department of Neurology; Mayo Clinic; Rochester Minnesota

7. Department of Pediatrics; Division of Genetics and Genomic Medicine; Washington University School of Medicine; St. Louis Missouri

8. Helix; San Carlos California

9. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

10. Department of Pediatrics; CHU Ste-Justine and University of Montreal; Montreal Canada

11. Department of Human Genetics and Donders Centre for Neuroscience; Radboud University Medical Center; Nijmegen The Netherlands

Funder

ACMG Foundation for Genetic and Genomic Medicine

Osteogenesis Imperfecta Foundation

Baylor College of Medicine Intellectual and Developmental Disabilities Research

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institutes of Health

Netherlands Organization for Health Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23282/fullpdf

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