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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 A. Rosenfeld, Lei Wang, Tiana M. Scott, Haowei Du, Vipulkumar Patel, Anh Dang, Pilar Magoulas,

Genetics in Medicine · 2021 · 27 citations · 33 references

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33

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations

, , +7

ES cell pluripotency and germ-layer formation require the SWI/SNF chromatin remodeling component BAF250a

Xiaolin Gao, Peri Tate, Ping Hu et al. · Proceedings of the National Academy of Sciences · 2008 · 347 citations · Full text

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