Associated Papers
Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.
Domenico D et al.
Nature Communications, 2025
A Corticotropin-Secreting Adenoma in the Setting of von Hippel-Lindau Disease.
Chen X et al.
Jcem Case Reports, 2025
Genomic analysis of small renal masses reveals mutations linked with renal cell carcinoma and fast-growing tumors.
Vaicekauskaitė I et al.
Journal of Cancer Research and Clinical Oncology, 2025
Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
Puttonen M et al.
Plos One, 2025
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.
Basyuni S et al.
Nature Communications, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.
Hamadamin PS et al.
Molecular and Clinical Oncology, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.
Szegedi K et al.
Journal of Clinical Medicine, 2023
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
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.
Feng H et al.
Translational Andrology and Urology, 2023
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Loughrey PB et al.
Endocrine-related Cancer, 2022
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 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
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.
Guo K et al.
Cell Death & Disease, 2022
Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort.
William D et al.
Metabolites, 2021
Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.
Penitenti F et al.
Endocrine, 2021
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
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
In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease.
Tirosh A et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
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
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
Dénes J et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS 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
Mutational landscape and significance across 12 major cancer types.
Kandoth C et al.
Nature, 2013
Proteostasis modulators prolong missense VHL protein activity and halt tumor progression.
Yang C et al.
Cell Reports, 2013
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
Taylor C et al.
International Journal of Oncology, 2012
A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report.
Asakawa T et al.
Bmc Medical Genetics, 2012
Von Hippel-Lindau disease and aggressive GH-PRL pituitary adenoma in a young boy.
Tudorancea A et al.
Annales D'endocrinologie, 2012