Associated Papers
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
Malignant rhabdoid tumors of the vulva versus epithelioid sarcomas: a clinicopathologic, immunohistochemical, and molecular genetics study.
Espinosa I et al.
Human Pathology, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel
Potential Targeted Therapies in Ovarian Cancer.
Sisman Y et al.
Pharmaceuticals (basel, Switzerland), 2022
36355495 (PubMed )
Supplement: pharmaceuticals-15-01324-s001.zip › Supplementary_material_Table_S3_.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
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.
Eaton KW et al.
Pediatric Blood & Cancer, 2011
Molecular genetics of atypical teratoid/rhabdoid tumor.
Biegel JA
Neurosurgical Focus, 2006
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