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Author

Xavier Vanhoye

Observed name: X. Vanhoye
Institution: Eurofins (France)
ORCID: 0000-0001-8875-5851
Observed ORCID: 0000-0001-8875-5851
OpenAlex ID: A5009211715
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
2022 · Quentin Testard, Xavier Vanhoye, et al. · Journal of Medical Genetics · 49
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Exome-First Strategy in Adult Patients With CKD: A Cohort Study
2022 · Alice Doreille, Yannis Lombardi, et al. · Kidney International Reports · 30
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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
2020 · Antoine Rimbert, Xavier Vanhoye, et al. · Arteriosclerosis Thrombosis and Vascular Biology · 30
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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia
2020 · Oriane Marmontel, Pierre Antoine Rollat‐Farnier, et al. · Clinical Genetics · 30
New psychoactive substances in oral fluid of drivers around a music festival in south-west France in 2017
2019 · Camille Richeval, Véronique Dumestre-Toulet, et al. · Forensic Science International · 28
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A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia
2022 · Xavier Vanhoye, Claire Bardel, et al. · Translational research · 25
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Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease–MUC1 27dupC Pathogenic Variant through Exome Sequencing
2024 · Ilias Bensouna, Thomas Robert, et al. · Journal of the American Society of Nephrology · 17
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
2022 · Xavier Vanhoye, Alexandre Janin, et al. · International Journal of Molecular Sciences · 12
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LSD Detection and Interpretation in Hair
2018 · Camille Richeval, Delphine Allorge, et al. · Current Pharmaceutical Design · 7
Dried Saliva Spots (DSS), tests immunochimiques de dépistage salivaire et produits stupéfiants
2017 · C. Richeval, M. Nachon-Phanithavong, et al. · Annales de Toxicologie Analytique · 7
NPS dans la salive de conducteurs aux abords de festivals de musique dans le sud-ouest à l’été 2017
2018 · V. Dumestre-Toulet, C. Richeval, et al. · Annales de Toxicologie Analytique · 2
Consommation de nouveaux produits de synthèse identifiée par analyse salivaire de conducteurs festivaliers aux abords de festivals de musique électronique dans le Sud-Ouest en 2017
2018 · V. Dumestre-Toulet, C. Richeval, et al. · Annales de Toxicologie Analytique · 2
Analyses capillaires d’un cas d’intoxication par la diphénidine et le 5-MeO-DALT fournissant des données sur les concentrations dans les cheveux de nombreux nouveaux produits de synthèse
2017 · J.-F. Wiart, M. Nachon-Phanithavong, et al. · Annales de Toxicologie Analytique · 2
Authors' Reply: Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene
2024 · Ilias Bensouna, Thomas Robert, et al. · Journal of the American Society of Nephrology · 1
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever
2024 · X. Vanhoye, P. Mouty, et al. · Practical Laboratory Medicine · 1
#6812 on the Top Pharmacogenetics Study Extracted From Exome Sequencing Done for Chronic Kidney Diseases of Unknow Origin
2023 · Fanny Ponce, Xavier Vanhoye, et al. · Nephrology Dialysis Transplantation · 1
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Systematic overestimation using in silico-driven curation in a population database caused reevaluation of the genetic prevalence of Alport Syndrome
2026 · Thomas Robert, Laure Raymond, et al. · Kidney International
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F42. Pharmacogenomic Profiling From Long-read Whole-genome Sequencing Data
2026 · Aleksandra Grujic, Fanny Ponce, et al. · European Neuropsychopharmacology
Complete pharmacogenomic profile from exome sequencing
2026 · Ilias Bensouna, Aleksandra Grujic, et al. · medRxiv
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Clinical biology and artificial intelligence: Objectives of the SFBC Workgroup
2025 · Walid Sabeur, Pierre-Adrien Bihl, et al. · Annales de biologie clinique
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification
2025 · Mario Abaji, Laurent Nasca, et al. · Prenatal Diagnosis
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Incidence of hypercholesterolemia actionable variants in a 10000+ exome cohort
2024 · Xavier Vanhoye, Laure Raymond · Atherosclerosis
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Leu351Arg in apoB, a new missense variant causing familial hypobetalipoproteinemia
2022 · X. Vanhoye, A. Janin, et al. · Atherosclerosis
Evaluation of new polygenic risk scores in the diagnosis of familial hypercholesterolemia
2021 · X. Vanhoye, C. Bardel, et al. · Atherosclerosis
Evaluation of new polygenic risk scores in the diagnosis of familial hypobetalipoproteinemia
2021 · X. Vanhoye, A. Rimbert, et al. · Atherosclerosis
Works count: 29
Citation count: 244
H-index: 8
I10-index: 8
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