Associated Papers
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
Comprehensive Analysis of PTEN in Primary Cutaneous Melanoma.
Němejcová K et al.
Folia Biologica, 2020
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
Additional germline findings from a tumor profiling program.
Stjepanovic N et al.
Bmc Medical Genomics, 2018
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
The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis.
Allen MD et al.
Structure (london, England : 1993), 2015
Use of clinical next-generation sequencing to identify melanomas harboring SMARCB1 mutations.
Stockman DL et al.
Journal of Cutaneous Pathology, 2015
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.
van den Munckhof P et al.
Neurogenetics, 2012
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.
Christiaans I et al.
Journal of Medical Genetics, 2011
Select a paper to view details