Annick Toutain

机构：Université de Tours, Inserm, Imaging, Brain, and Neuropsychiatry, Centre Hospitalier Universitaire de Tours, Hôpital Bretonneau · ORCID：0000-0002-5999-5300

发表论文 356 篇 · 总被引 15148 次 · h-index 69

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)
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands (2022 · Brain · 被引 46)
X‐Linked intellectual disability update 2022 (2022 · American Journal of Medical Genetics Part A · 被引 22)
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome (2024 · Scientific Reports · 被引 21)
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance (2022 · Human Molecular Genetics · 被引 18)