Associated Papers
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.
Satish S et al.
Cancer Genetics, 2025
High-throughput screening of human genetic variants by pooled prime editing.
Herger M et al.
Cell Genomics, 2025
40120586 (PubMed )
Supplement: mmc5.xlsx › Table_supp_SMARCB1-VariantData
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
37436963 (PubMed )
Supplement: noad121_suppl_supplementary_tables.xlsx › Table_S2
Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.
Li Y et al.
Journal of Clinical Laboratory Analysis, 2022
Detection of Germline Mutations of the SMARCB1 Gene in a Chinese Family with Intraspinal Schwannomatosis.
Ding Y et al.
World Neurosurgery, 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/INI1 maternal germ line mosaicism in schwannomatosis.
Hulsebos TJ et al.
Clinical Genetics, 2010
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