Associated Papers
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Diets IJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten T et al.
European Journal of Human Genetics : Ejhg, 2018
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith MJ et al.
Cancer Genetics, 2014
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Smith MJ et al.
Neurogenetics, 2012
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