SMARCA4

Publications

Bramswig N C, et al. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet. 2015;134(6):553-568. PMID:25724810.

Errichiello E, et al. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. J Pathol. 2017; 243(1):9-15. PMID:28608987.

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.

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.

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.

Witkowski L, et al. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet. 2014; 46(5):438-443. PMID:24658002.

For further information we also refer to https://rarediseases.org/rare-diseases/coffin-siris-syndrome/.