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
AMPK-activated BAP1 regulates pVHL stability and tumor-suppressive functions.
Li M et al.
Cell Death and Differentiation, 2025
Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review.
Skrehot HC et al.
American Journal of Ophthalmology Case Reports, 2025
Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.
Nell RJ et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2025
Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.
Peng Y et al.
Molecular Medicine (cambridge, Mass.), 2025
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.
Vasudev NS et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.
Abbassi YA et al.
Familial Cancer, 2023
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
Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.
Wang XY et al.
Theranostics, 2022
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health.
Vimercati L et al.
Frontiers in Oncology, 2022
Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma.
Bi H et al.
Translational Andrology and Urology, 2020
Functional Genomic Complexity Defines Intratumor Heterogeneity and Tumor Aggressiveness in Liver Cancer.
Kwon SM et al.
Scientific Reports, 2019
A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.
Foglizzo M et al.
Nature Communications, 2018
Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.
Farshidfar F et al.
Cell Reports, 2017
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