PMC Links for OMIM (Select 604958) - PMC

Select item 89572921.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies

Chun-An Chen, John Lattier, Wenmiao Zhu, Jill Rosenfeld, Lei Wang, Tiana M. Scott, Haowei Du, Vipulkumar Patel, Anh Dang, Pilar Magoulas, Haley Streff, Jessica Sebastian, Shayna Svihovec, Kathryn Curry, Mauricio R. Delgado, Neil Hanchard, Seema Lalani, Ronit Marom, Suneeta Madan-Khetarpal, Margarita Saenz, Hongzheng Dai, Linyan Meng, Fan Xia, Weimin Bi, Pengfei Liu, Jennifer E. Posey, Daryl A. Scott, James R. Lupski, Christine M. Eng, Rui Xiao, Bo Yuan

Genet Med. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Genet Med. 2022 Feb; 24(2): 364–373. Published online 2021 Nov 30. doi: 10.1016/j.gim.2021.09.017

PMCID:: PMC8957292

Abstract Article PDF–253K

Select item 84145712.

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

Zhuang-Zhuang Yuan, Xiao-Hui Xie, Heng Gu, Wei-Zhi Zhang, Yi-Qiao Hu, Yi-Feng Yang, Zhi-Ping Tan

Front Cardiovasc Med. 2021; 8: 708033. Published online 2021 Aug 13. doi: 10.3389/fcvm.2021.708033

PMCID:: PMC8414571

Abstract Article PDF–3.0M

Select item 55993253.

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

Ronit Marom, Mahim Jain, Lindsay C. Burrage, I-Wen Song, Brett H. Graham, Chester W. Brown, Servi J.C. Stevens, Alexander P.A. Stegmann, Andrew T. Gunter, Julie D. Kaplan, Ralitza H. Gavrilova, Marwan Shinawi, Jill A. Rosenfeld, Yangjin Bae, Alyssa A. Tran, Yuqing Chen, James T. Lu, Richard A. Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B.A. de Vries, Philippe M. Campeau, Brendan Lee

Hum Mutat. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Hum Mutat. 2017 Oct; 38(10): 1365–1371. Published online 2017 Jul 10. doi: 10.1002/humu.23282

PMCID:: PMC5599325

Abstract Article PDF–549K

Select item 29215804.

MicroRNA-mediated switching of chromatin-remodelling complexes in neural development

Andrew S. Yoo, Brett T. Staahl, Lei Chen, Gerald R. Crabtree

Nature. Author manuscript; available in PMC 2010 Aug 15.

Published in final edited form as: Nature. 2009 Jul 30; 460(7255): 642–646. Published online 2009 Jun 28. doi: 10.1038/nature08139

Correction in:: volume 461 on page 296

PMCID:: PMC2921580

Abstract Article PDF–2.8M

Select item 3505605.

Structural and Functional Conservation of the NuA4 Histone Acetyltransferase Complex from Yeast to Humans

Yannick Doyon, William Selleck, William S. Lane, Song Tan, Jacques Côté

Mol Cell Biol. 2004 Mar; 24(5): 1884–1896. doi: 10.1128/MCB.24.5.1884-1896.2004

PMCID:: PMC350560

Abstract Article PDF–743K

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