Anne‐Sophie Denommé‐Pichon

发表论文 160 篇 · 总被引 2654 次 · h-index 29

代表论文

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (2025 · Nature Medicine · 被引 58)
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)
RNA variant assessment using transactivation and transdifferentiation (2024 · The American Journal of Human Genetics · 被引 20)
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140 (2024 · American Journal of Kidney Diseases · 被引 13)
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia (2024 · Brain · 被引 11)