Diane Doummar
Sorbonne Université(FR)Hôpital Armand-Trousseau(FR)Assistance Publique – Hôpitaux de Paris(FR)Laboratoire National de Référence(MA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurological disorders and treatments, Metabolism and Genetic Disorders, Neurogenetic and Muscular Disorders Research
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
- → GRIN2A -related disorders: genotype and functional consequence predict phenotype(2018)223 cited
- → cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing(2020)188 cited
- → Mutations disrupting neuritogenesis genes confer risk for cerebral palsy(2020)172 cited
- → Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients(2015)153 cited