Associated Papers
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically.
van der Sluijs PJ et al.
Genome Medicine, 2025
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ et al.
Genetics in Medicine Open, 2024
39669611 (PubMed )
Supplement: mmc1.pdf
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.
Mouskou S et al.
Molecular Syndromology, 2022
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30349098 (PubMed )
Supplement: 41436_2018_330_MOESM1_ESM.pdf
Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y et al.
Clinical Genetics, 2014
Creating a neural specific chromatin landscape by npBAF and nBAF complexes.
Staahl BT et al.
Current Opinion in Neurobiology, 2013
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