Associated Papers
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.
Satish S et al.
Cancer Genetics, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
36869079 (PubMed )
Supplement: 41598_2023_30624_MOESM2_ESM.xlsx › Table_S3
Primary adult sellar SMARCB1/INI1-deficient tumor represents a subtype of atypical teratoid/rhabdoid tumor.
Duan Z et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
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
Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.
Richer W et al.
Oncotarget, 2017
28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.
Sévenet N et al.
Human Molecular Genetics, 1999
Select a paper to view details