Amélie Piton

机构：Centre National de la Recherche Scientifique, Inserm, Institut de génétique et de biologie moléculaire et cellulaire, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg · ORCID：0000-0003-0408-7468

发表论文 165 篇 · 总被引 9644 次 · h-index 50

代表论文

• Natural History and Phenotypic Spectrum of GAA‐ FGF14 Sporadic Late‐Onset Cerebellar Ataxia ( SCA27B ) (2023 · Movement Disorders · 被引 59)
• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025 · Nature Genetics · 被引 51)
• Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes (2023 · Brain · 被引 30)
• Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders (2023 · European Journal of Human Genetics · 被引 30)
• The different clinical facets of SYN1-related neurodevelopmental disorders (2022 · Frontiers in Cell and Developmental Biology · 被引 30)
• 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 26)