Associated Papers
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_j
The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group.
van Poppelen NM et al.
Investigative Ophthalmology & Visual Science, 2024
Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.
Wadt KAW et al.
Plos One, 2024
39378214 (PubMed )
Supplement: pone.0306386.s001.xlsx › Ark2
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma.
Sharma A et al.
Cancers, 2019
31635116 (PubMed )
Supplement: cancers-11-01600-s001.pdf
Germline BRCA1-associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma.
Watchorn RE et al.
Pediatric Dermatology, 2018
Systematic Analysis of Splice-Site-Creating Mutations in Cancer.
Jayasinghe RG et al.
Cell Reports, 2018
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.
Haugh AM et al.
Jama Dermatology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_6._Type_1_Cryptic_Splice_Site_Variantsv2.xlsx › Supplementary_Table_6
Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.
Cheung M et al.
Cancer Genetics, 2013
A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma.
Wadt K et al.
Pigment Cell & Melanoma Research, 2012
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