Associated Papers
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 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
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
Yeh CN et al.
Npj Precision Oncology, 2025
39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf
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
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H et al.
Human Genetics, 2017
Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors.
Hulsebos TJ et al.
Acta Neuropathologica, 2014
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Smith MJ et al.
Neurogenetics, 2012
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.
Rousseau G et al.
Bmc Neurology, 2011
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.
Hadfield KD et al.
Journal of Medical Genetics, 2008
Germline mutation of INI1/SMARCB1 in familial schwannomatosis.
Hulsebos TJ et al.
American Journal of Human Genetics, 2007
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