Dorothée Ville
Hôpital Femme Mère Enfant(FR)Centre de Recherche en Neurosciences de Lyon(FR)Hospices Civils de Lyon(FR)Hôpital Pierre Wertheimer(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction(2013)438 cited
- → Key clinical features to identify girls with CDKL5 mutations(2008)286 cited
- → De novo mutations in HCN1 cause early infantile epileptic encephalopathy(2014)234 cited
- → Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)(2007)231 cited
- → GRIN2A -related disorders: genotype and functional consequence predict phenotype(2018)223 cited