Christel Depienne

机构：Essen University Hospital, University of Duisburg-Essen · ORCID：0000-0002-7212-9554

发表论文 330 篇 · 总被引 18792 次 · h-index 72

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)
• Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders (2025 · medRxiv · 被引 13)
• Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies (2025 · medRxiv · 被引 8)
• Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism (2025 · Brain · 被引 7)
• Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing (2025 · Brain · 被引 6)