Giulia Barcia

机构：Hôpital Necker-Enfants Malades, Université de Pau et des Pays de l'Adour, Inserm, Université Paris Cité, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine · ORCID：0000-0001-6657-5040

发表论文 161 篇 · 总被引 3745 次 · h-index 34

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)
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease (2023 · The American Journal of Human Genetics · 被引 44)
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production (2023 · Science Translational Medicine · 被引 37)
Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients (2024 · Epilepsia · 被引 19)
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies (2025 · Epilepsia Open · 被引 13)