Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 2026
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.
Knoblauch AL et al.
Journal of Neuro-oncology, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.
Pei J et al.
Febs Open Bio, 2024
Relationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.
Kanno H et al.
Journal of Kidney Cancer and Vhl, 2024
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P et al.
The Journal of Pathology. Clinical Research, 2023
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
The Mutational Landscape of Cancer's Vulnerability to Ionizing Radiation.
Gopal P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.
Zengin ZB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.
Sumiyoshi T et al.
Cancer Science, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Role of VHL-JAK-STAT signaling pathway in central nervous system hemangioblastoma associated with von Hippel-Lindau disease.
Kanno H et al.
Journal of Neuro-oncology, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.
Minervini G et al.
Plos Computational Biology, 2019
Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.
Hong B et al.
Frontiers in Genetics, 2019
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.
Liu Q et al.
Endocrine Connections, 2018
VHL missense mutations in the p53 binding domain show different effects on p53 signaling and HIFα degradation in clear cell renal cell carcinoma.
Razafinjatovo CF et al.
Oncotarget, 2017
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
Razafinjatovo C et al.
Bmc Cancer, 2016
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein.
Le Goff X et al.
Journal of Cell Science, 2016
Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.
Arunachal G et al.
Genetics Research International, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 2015
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.
Gossage L et al.
Human Molecular Genetics, 2014
Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.
Muscarella LA et al.
Journal of Neuropathology and Experimental Neurology, 2014
Mutational landscape and significance across 12 major cancer types.
Kandoth C et al.
Nature, 2013
Combined mutation of Vhl and Trp53 causes renal cysts and tumours in mice.
Albers J et al.
Embo Molecular Medicine, 2013
BAP1 loss defines a new class of renal cell carcinoma.
Peña-Llopis S et al.
Nature Genetics, 2012
A validated tumorgraft model reveals activity of dovitinib against renal cell carcinoma.
Sivanand S et al.
Science Translational Medicine, 2012
Epigenetic regulation in RCC: opportunities for therapeutic intervention?
Larkin J et al.
Nature Reviews. Urology, 2012
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011