Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
A high proportion of germline variants in pediatric chronic myeloid leukemia.
Krumbholz M et al.
Molecular Cancer, 2024
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 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
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 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
Clinical utility of Next Generation Sequencing of plasma cell-free DNA for the molecular profiling of patients with NSCLC at diagnosis and disease progression.
Del Re M et al.
Translational Oncology, 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
A Phase II trial of alternating osimertinib and gefitinib therapy in advanced EGFR-T790M positive non-small cell lung cancer: OSCILLATE.
Tan L et al.
Nature Communications, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.
Taher MM et al.
Cureus, 2023
PIN1 and CDK1 cooperatively govern pVHL stability and suppressive functions.
Chen J et al.
Cell Death and Differentiation, 2023
Comprehensive mutation profiling from wastewater in southern Germany extends evidence of circulating SARS-CoV-2 diversity beyond mutations characteristic for Omicron.
Agrawal S et al.
Fems Microbes, 2023
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR et al.
Plos Genetics, 2022
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC.
Chesnel F et al.
British Journal of 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
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
Rana HQ et al.
European Journal of Medical Genetics, 2021
Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.
Taher MM et al.
The Gulf Journal of Oncology, 2021
Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.
Bratslavsky G et al.
Cancers, 2021
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome.
Sandoval RL et al.
Jco Global Oncology, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.
Argyropoulos KV et al.
Blood Cancer Journal, 2020
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
The incidence of consecutive manifestations in Von Hippel-Lindau disease.
van der Horst-Schrivers ANA et al.
Familial Cancer, 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