Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Prediction tools for assessing functional impacts of gene mutations in Clear Cell Renal Cell Carcinoma: A comparative study.
Yang CH et al.
Computers in Biology and Medicine, 2025
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
BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.
West EC et al.
Clinical Genetics, 2024
H2A monoubiquitination: insights from human genetics and animal models.
Ryan CW et al.
Human Genetics, 2024
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer.
Bell HN et al.
Cold Spring Harbor Molecular Case Studies, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.
Testa U et al.
Medicines (basel, Switzerland), 2020
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Abdel-Rahman MH et al.
Ophthalmology, 2020
Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.
Pasculli B et al.
Frontiers in Oncology, 2020
32903519 (PubMed )
Supplement: Table_1.xlsx › Supplemental_Table_7_
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
Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.
Piva F et al.
Oncotarget, 2015
BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies.
Piva F et al.
Expert Review of Molecular Diagnostics, 2015
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment.
Battaglia A
Clinical Medicine Insights. Oncology, 2014
Germline BAP1 mutations predispose to renal cell carcinomas.
Popova T et al.
American Journal of Human Genetics, 2013
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