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
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
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_MOESM1_ESM.pdf
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
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