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
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419
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
Creating a neural specific chromatin landscape by npBAF and nBAF complexes.
Staahl BT et al.
Current Opinion in Neurobiology, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW et al.
Human Mutation, 2013
Select a paper to view details