Marlène Rio

机构：Hôpital Necker-Enfants Malades, Institut Necker Enfants Malades · ORCID：0000-0003-2049-5058

发表论文 262 篇 · 总被引 10705 次 · h-index 59

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)
• Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies (2025 · Epilepsia Open · 被引 12)
• Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies (2025 · medRxiv · 被引 8)
• Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech (2025 · Molecular Autism · 被引 8)
• RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures (2024 · Genetics in Medicine · 被引 8)