Concepedia

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

Nuria C. Bramswig, Oana Caluseriu, H.‐J. Lüdecke, François V. Bolduc, Nicole C. L. Noel, Thomas Wieland, Harald Surowy, H.‐J. Christen, Hartmut Engels, Tim M. Strom,

Human Genetics · 2017 · 74 citations · 21 references

DOI

Concepts

References

21

De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K 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

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 350 citations · Full text

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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele et al. · The American Journal of Human Genetics · 2012 · 267 citations · Full text

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PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes

Zhijiang Yan, Kairong Cui, Darryl Murray et al. · Genes & Development · 2005 · 253 citations · Full text

, , +17