Kévin Yauy

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

Kévin Yauy, Nicole de Leeuw, Helger G. Yntema et al. · Genetics in Medicine · 2019 · 61 citations · Full text

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Quentin Testard, Xavier Vanhoye, Kévin Yauy et al. · Journal of Medical Genetics · 2022 · 52 citations

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes

Reda Zenagui, Delphine Lacourt, Henri Pégeot et al. · Journal of Molecular Diagnostics · 2018 · 36 citations · Full text

Giant Titin, Functional Genomics, Engineering +12

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kévin Yauy, Frédéric Tran Mau‐Them, Marjolaine Willems et al. · Genetics in Medicine · 2017 · 28 citations · Full text

B3gat3-related Disorder, Bone Fragility, Sclerostin +7

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Kévin Yauy, David Baux, Henri Pégeot et al. · Journal of Molecular Diagnostics · 2018 · 22 citations

Bioinformatics, Long-read Sequencing, Dna Sequencing +15