Estelle Colin

机构：Centre National de la Recherche Scientifique, Inserm, Université de Bourgogne, Centre Hospitalier Universitaire d'Angers, CHU Dijon Bourgogne, Université d'Angers · ORCID：0000-0001-7913-3938

发表论文 141 篇 · 总被引 3805 次 · h-index 35

代表论文

PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 47)
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies (2025 · medRxiv · 被引 8)
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France (2025 · BMJ Open · 被引 7)
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature (2025 · European Journal of Human Genetics · 被引 7)
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models (2025 · Annals of Neurology · 被引 6)
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome (2025 · The American Journal of Human Genetics · 被引 6)