Associated Papers
Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Sticchi E et al.
Diagnostics (basel, Switzerland), 2025
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G et al.
Journal of Medical 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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Benetti A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Salehipour D et al.
Database : the Journal of Biological Databases and Curation, 2023
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR et al.
Plos Genetics, 2022
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 2022
Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.
Cyrta J et al.
The Journal of Pathology, 2022
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Tracing Clonal Dynamics Reveals that Two- and Three-dimensional Patient-derived Cell Models Capture Tumor Heterogeneity of Clear Cell Renal Cell Carcinoma.
Bolck HA et al.
European Urology Focus, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.
Fojo T et al.
Bmc Medical Genomics, 2020
Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
De Silva DL et al.
Bmj Case Reports, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.
Fagundes GFC et al.
Journal of the Endocrine Society, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genetic associations between genes in the renin-angiotensin-aldosterone system and renal disease: a systematic review and meta-analysis.
Smyth LJ et al.
Bmj Open, 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
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Sun JX et al.
Plos Computational Biology, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Tuberous sclerosis complex protein 1 expression is affected by VHL Gene alterations and HIF-1α production in sporadic clear-cell renal cell carcinoma.
Damjanovic SS et al.
Experimental and Molecular Pathology, 2016
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
Isoform-specific interactions of the von Hippel-Lindau tumor suppressor protein.
Minervini G et al.
Scientific Reports, 2015
New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.
Costa V et al.
Oncotarget, 2015
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E et al.
Ophthalmic 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
Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.
Churi CR et al.
Plos One, 2014
Mutation screening in a Norwegian cohort with pheochromocytoma.
Sjursen W et al.
Familial Cancer, 2013
VHL gene alterations in Italian patients with isolated renal cell carcinomas.
Muscarella LA et al.
The International Journal of Biological Markers, 2013
Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms.
Klingler JH et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2013
Investigation of genetic disturbances in oxygen sensing and erythropoietin signaling pathways in cases of idiopathic erythrocytosis.
Dinardo CL et al.
Genetics Research International, 2013
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
Taylor C et al.
International Journal of Oncology, 2012
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
Dandanell M et al.
Bmc Medical Genetics, 2012
Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.
Moore LE et al.
Plos Genetics, 2011