@article{ae51efbf05334097821ad3689fe2c17f,
title = "Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability",
keywords = "ACTL6A, BAF complex, intellectual disability, speech delay, ACTIN-RELATED PROTEINS, COFFIN-SIRIS SYNDROME, CHROMATIN-REMODELING COMPLEX, BARAITSER-WINTER SYNDROME, DE-NOVO MUTATIONS, MENTAL-RETARDATION, NUCLEAR ACTIN, HAPLOINSUFFICIENCY CAUSES, SWI/SNF COMPLEX, GENE",
author = "Ronit Marom and Mahim Jain and Burrage, {Lindsay C.} and I-Wen Song and Graham, {Brett H.} and Brown, {Chester W.} and Stevens, {Servi J. C.} and Stegmann, {Alexander P. A.} and Gunter, {Andrew T.} and Kaplan, {Julie D.} and Gavrilova, {Ralitza H.} and Marwan Shinawi and Rosenfeld, {Jill A.} and Yangjin Bae and Tran, {Alyssa A.} and Yuqing Chen and Lu, {James T.} and Gibbs, {Richard A.} and Christine Eng and Yaping Yang and Justine Rousseau and {de Vries}, {Bert B. A.} and Campeau, {Philippe M.} and Brendan Lee",
year = "2017",
month = oct,
doi = "10.1002/humu.23282",
language = "English",
volume = "38",
pages = "1365--1371",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley",
number = "10",
}