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
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations
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
Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.
Johann PD et al.
Brain Pathology (zurich, Switzerland), 2017
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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