Hoyer J et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012;90(3):565-572. PMID: 22405089

Kosho T et al. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. Am J Med Genet C Semin Med Genet. 2014;166C(3):241-251. PMID: 25169878

Santen G et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013;34(11):1519-28. PMID: 23929686

Santen G et al. The ARID1B phenotype: what we have learned so far. Am J Med Genet C Semin Med Genet. 2014;166C(3):276-89. PMID: 25169814

Santen G et al. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
Epigenetics. 2012;7(11):1219-24. PMID: 23010866

Sim JC et al. ARID1B-mediated disorders: Mutations and possible mechanisms. Intractable Rare Dis Res. 2015;4(1):17-23. PMID: 25674384

Smith JA et al. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. Am J Med Genet A. 2016;170(12):3313-3318. PMID: 27570168

Tsurusaki Y et al. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2014;85(6):548-54. PMID: 23815551