Associated Papers
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.
Satish S et al.
Cancer Genetics, 2025
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Brugmans AK et al.
Cellular and Molecular Neurobiology, 2023
37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM2_ESM.xlsx › COSMIC_Cancer_all_mutations
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
Shirai R et al.
European Journal of Human Genetics : Ejhg, 2020
Functional relevance of genes predicted to be affected by epigenetic alterations in atypical teratoid/rhabdoid tumors.
Tegeder I et al.
Journal of Neuro-oncology, 2019
Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.
Lier A et al.
Jco Precision Oncology, 2018
35135162 (PubMed )
Supplement: ds_po.18.00171-2.pdf
Frequent co-inactivation of the SWI/SNF subunits SMARCB1, SMARCA2 and PBRM1 in malignant rhabdoid tumours.
Rao Q et al.
Histopathology, 2015
Identification of genes involved in the biology of atypical teratoid/rhabdoid tumours using Drosophila melanogaster.
Jeibmann A et al.
Nature Communications, 2014
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