Andrée Delahaye‐Duriez

机构：Sorbonne Université, Université Sorbonne Paris Nord, Assistance Publique – Hôpitaux de Paris, Hôpital Jean-Verdier · ORCID：0000-0003-4324-7372

发表论文 95 篇 · 总被引 2526 次 · h-index 29

代表论文

• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025 · Nature Genetics · 被引 47)
• PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 46)
• Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes (2023 · Brain · 被引 28)
• Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes (2024 · The American Journal of Human Genetics · 被引 27)
• Accelerated aging in bipolar disorders: An exploratory study of six epigenetic clocks (2023 · Psychiatry Research · 被引 24)
• Using multiomic integration to improve blood biomarkers of major depressive disorder: a case-control study (2025 · EBioMedicine · 被引 13)