Frédéric Bilan

机构：Inserm, Université de Poitiers, Centre Hospitalier Universitaire de Poitiers, Laboratoire de Génétique Cellulaire · ORCID：0000-0001-8589-6018

发表论文 83 篇 · 总被引 2126 次 · h-index 27

代表论文

• PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 46)
• MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects (2021 · Human Genetics · 被引 36)
• Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications (2022 · Brain · 被引 32)
• Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders (2023 · European Journal of Human Genetics · 被引 29)
• De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission (2022 · Annals of Neurology · 被引 25)
• ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks (2023 · Human Molecular Genetics · 被引 24)