Associated Papers
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses.
Patel M et al.
Neurogenetics, 2025
A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Guo Z et al.
Acta Biochimica Et Biophysica Sinica, 2024
39563460 (PubMed )
Supplement: Table_S1.case_details.xlsx › Sheet1
A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation.
Lee JH et al.
Medicina (kaunas, Lithuania), 2022
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
27921248 (PubMed )
Supplement: 439_2016_1753_MOESM1_ESM.doc
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Smith MJ et al.
Neurogenetics, 2012
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.
Christiaans I et al.
Journal of Medical Genetics, 2011
SMARCB1 mutations are not a common cause of multiple meningiomas.
Hadfield KD et al.
Journal of Medical Genetics, 2010
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.
Bacci C et al.
Neurogenetics, 2010
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