Associated Papers
Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.
Testa U et al.
Medicines (basel, Switzerland), 2020
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ et al.
Human Molecular Genetics, 2012
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.
Boyd C et al.
Clinical Genetics, 2008
Hotspot mutations in polyomavirus positive and negative Merkel cell carcinomas.
Veija T et al.
Cancer Genetics, 0
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