Benjamin Dauriat

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 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Severe Phenotype in Patients with Large Deletions of NF1

Laurence Pacot, Dominique Vidaud, Audrey Sabbagh et al. · Cancers · 2021 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson, François Lecoquierre, Gaël Nicolas et al. · European Journal of Human Genetics · 2023 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Catherine Schramm, Camille Charbonnier, Aline Zaréa et al. · Genome Medicine · 2022 · 25 citations · Full text

Life Sciences, Biostatistics, Genetics +17