Kevin Yauy
Montpellier, 34000, France
Last Updated: 09/26/2026
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Found 29 publications
Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.
Journal: Current issues in molecular biology
Published: June 06, 2026
Large language models for optimizing clinical trial recruitment in ICUs: application to ventilator-induced diaphragm dysfunction.
Journal: Critical care (London, England)
Published: March 23, 2026
Competency-Based Medical Education at the Front Lines of Patient Care.
Journal: The New England journal of medicine
Published: October 15, 2025
Visual Inspection of Sequencing Data for Diagnosis: Practical Guide to Structural Variant Analysis Using Integrative Genomics Viewer (IGV).
Journal: Methods in molecular biology (Clifton, N.J.)
Published: August 30, 2025
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format.
Journal: NAR genomics and bioinformatics
Published: December 18, 2024
Evaluating podcasts as a tool for OSCE training: a randomized trial using generative AI-powered simulation.
Journal: BMC medical education
Published: November 05, 2024
Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.
Journal: American journal of medical genetics. Part A
Published: May 02, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Journal: Scientific reports
Published: December 20, 2023
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Journal: Molecular genetics & genomic medicine
Published: August 03, 2023
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.
Journal: The Journal of allergy and clinical immunology
Published: June 27, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 26, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
Journal: International journal of molecular sciences
Published: March 15, 2023
Last Updated: 09/26/2026