Associated Papers
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
Functional and Molecular Heterogeneity in Glioma Stem Cells Derived from Multiregional Sampling.
Brynjulvsen M et al.
Cancers, 2023
38136371 (PubMed )
Supplement: cancers-15-05826-s001.zip › cancers-2734281-supplementary › Supplementary_Table_S3_-_Mutations.xlsx › Mutations
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3
Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.
Finkle JD et al.
Npj Precision Oncology, 2021
34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf
Functional characterisation guides classification of novel BAP1 germline variants.
Hong JH et al.
Npj Genomic Medicine, 2020
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.
Ossio R et al.
Bioinformatics (oxford, England), 2019
31161195 (PubMed )
Supplement: btz458_supplementary_materials.zip › btz458-suppl_data › Supplementary_text.docx
A population-based analysis of germline BAP1 mutations in melanoma.
O'Shea SJ et al.
Human Molecular Genetics, 2017
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