Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM19_ESM.xlsx › extended_data_fig_7_a
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
37556141 (PubMed )
Supplement: jamanetwopen-e2327351-s001.pdf
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C et al.
Cancers, 2019
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S et al.
Journal of the National Cancer Institute, 2018
A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.
Foglizzo M et al.
Nature Communications, 2018
30258054 (PubMed )
Supplement: 41467_2018_6186_MOESM1_ESM.pdf
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