Associated Papers
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
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.
Liu Y et al.
Journal of Ovarian Research, 2022
Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.
Anno M et al.
Endocrine Journal, 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
VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells.
Ma X et al.
Cell & Bioscience, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.
Charo LM et al.
Molecular Oncology, 2021
Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China.
Li M et al.
Translational Andrology and Urology, 2020
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Salama Y et al.
Clinical Genetics, 2019
EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance.
Li S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Gieldon L et al.
Cancers, 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
Effective osimertinib treatment in a patient with discordant T790 M mutation detection between liquid biopsy and tissue biopsy.
Mambetsariev I et al.
Bmc Cancer, 2018
Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.
Urbini M et al.
International Journal of Genomics, 2018
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
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.
Crona J et al.
Plos One, 2014
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
Burnichon N et al.
Human Molecular Genetics, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.
Miller F et al.
The Journal of Biological Chemistry, 2005