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
Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma.
Cole YC et al.
Cancers, 2022
36077643 (PubMed )
Supplement: cancers-14-04105-s001.zip › Table_S3._Mutational_and_Chromosomal_characteristics_of_UM_Tumours_and_Accompanying_Clinical_Data_of_Patients.xlsx › Table_S3.
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
Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.
Carbone M et al.
Plos Genetics, 2015
26683624 (PubMed )
Supplement: pgen.1005633.s003.pdf
Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.
Aoude LG et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2015
AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.
Taylor Gonzalez DJ et al.
Ophthalmology Science, 0
40114711 (PubMed )
Supplement: mmc1.docx
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