Associated Papers
Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.
Gaspar LM et al.
Journal of Clinical & Translational Endocrinology, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.
Pérez-Ibave DC et al.
Genes, 2023
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
Sculco M et al.
European Journal of Cancer (oxford, England : 1990), 2022
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 2021
Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.
Murro V et al.
Molecular Vision, 2021
Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.
Alanazi M et al.
Saudi Journal of Biological Sciences, 2020
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
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.
Carlo MI et al.
Jama Oncology, 2018
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.
Newey PJ et al.
Journal of the Endocrine Society, 2017
Combined mutation in Vhl, Trp53 and Rb1 causes clear cell renal cell carcinoma in mice.
Harlander S et al.
Nature Medicine, 2017
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
Cheng DT et al.
Bmc Medical Genomics, 2017
Lost in translation: returning germline genetic results in genome-scale cancer research.
Johns AL et al.
Genome Medicine, 2017
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.
Leonardi E et al.
Annals of Human Genetics, 2011