PhenomeGene — Human Disease Gene Website SeriesSMARCB1

Publications

Diets IJ et al.A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. Genet Med. 2018;[Epub ahead of print].  PMID: 29907796.

Firth HV et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Am J Hum Genet. 2009;84(4):524-533. PMID: 19344873.

Gossai N et al.Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.Am J Med Genet A. 2015;167A(12):3186-91. PMID: 26364901.

Holsten T et al.Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. Eur J Hum Genet. 2018;26(8):1083-1093. PMID: 29706634.

Kleefstra T et al.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.Am J Hum Genet. 2012;91(1):73-82. PMID: 22726846.

Kosho T et al.Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A. 2013;161A(6):1221-1237. PMID:23637025.

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.

Kosho T et al.Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet. 2014;166C(3):262-275. PMID:25168959.

Mari F et al.Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. Brain Dev. 2015;37(5):527-36. PMID: 25249037.

Miyake N et al.Numerous BAF complex genes are mutated in Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014;166C(3):257-61. PMID:25081545.

Santen G et al.Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.Hum Mutat. 2013;34(11):1519-1528. PMID:23929686.

Tsurusaki Y et al.Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.Nat Genet. 2012;44(4):376-378. PMID:22426308.

Tsurusaki Y et al.Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2014;85(6):548-554. PMID:23815551.

Wieczorek D et al.A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22(25):5121-35. PMID: 23906836.

This website makes use of data generated by the DECIPHER community. A full list of centres who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust.