Stéphane Bezieau

机构：Centre National de la Recherche Scientifique, Inserm, Centre Hospitalier Universitaire de Nantes, Institut du Thorax, Nantes Université · ORCID：0000-0003-0095-1319

发表论文 394 篇 · 总被引 13794 次 · h-index 63

代表论文

PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 54)
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025 · Nature Genetics · 被引 51)
Neurodevelopmental Disorder Caused by Deletion of CHASERR , a lncRNA Gene (2024 · New England Journal of Medicine · 被引 42)
Germline mutations in a G protein identify signaling cross-talk in T cells (2024 · Science · 被引 28)
Identification of Hepatic-like EPO as a Cause of Polycythemia (2025 · New England Journal of Medicine · 被引 13)
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder (2024 · Annals of Neurology · 被引 11)