Benjamin Dauriat
Centre Hospitalier Universitaire de Limoges(FR)Hôpital Mère-Enfant(FR)Génétique Médicale & Génomique Fonctionelle(FR)Association pour l'Utilisation du Rein Artificiel(FR)Biologie de la Reproduction, Environnement, Epigénétique et Développement(FR)Université de Limoges(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, Acute Myeloid Leukemia Research
Most-Cited Works
- → Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases(2022)54 cited
- → Severe Phenotype in Patients with Large Deletions of NF1(2021)38 cited
- → Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption(2025)28 cited
- → Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders(2023)25 cited
- → Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes(2022)23 cited
- → Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening