Associated Papers
Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.
Muniroh M et al.
Scientific Reports, 2025
Mapping cryptic phosphorylation sites in the human proteome.
Gasparotto D et al.
The Embo Journal, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 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
Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.
Pei J et al.
Febs Open Bio, 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
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.
Johnson TA et al.
Human Molecular Genetics, 2023
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.
Labriola MK et al.
Journal for Immunotherapy of Cancer, 2020
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Papillary pattern in clear cell renal cell carcinoma: Clinicopathologic, morphologic, immunohistochemical and molecular genetic analysis of 23 cases.
Alaghehbandan R et al.
Annals of Diagnostic Pathology, 2019
Somatic mutations in renal cell carcinomas from Chinese patients revealed by whole exome sequencing.
Wang J et al.
Cancer Cell International, 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
Genomic Characterization of Renal Cell Carcinoma with Sarcomatoid Dedifferentiation Pinpoints Recurrent Genomic Alterations.
Malouf GG et al.
European Urology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
Papathomas TG et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.
Ding X et al.
Journal of Neurosurgery, 2014
Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.
Kumar PS et al.
Indian Journal of Human Genetics, 2013
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
Rechsteiner MP et al.
Cancer Research, 2011
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Dalgliesh GL et al.
Nature, 2010
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
Forman JR et al.
Proteins, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
Patocs A et al.
Bmc Medical Genetics, 2008
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
Hes FJ et al.
Clinical Genetics, 2007