Cyril Mignot
Centre National de la Recherche Scientifique(FR)Inserm(FR)Sorbonne Université(FR)Hôpital Armand-Trousseau(FR)Sorbonne Paris Cité(FR)Assistance Publique – Hôpitaux de Paris(FR)Tsehootsooi Medical Center(US)Centre de Référence des Maladies Autoinflammatoires et des Amyloses(FR)Pitié-Salpêtrière Hospital(FR)Centre d'Épidémiologie sur les Causes Médicales de Décès(FR)Délégation Paris 6(FR)Institut du Cerveau(FR)University Hospital Carl Gustav Carus(DE)Klinik und Poliklinik für Psychotherapie und Psychosomatik(DE)Technische Universität Dresden(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, RNA regulation and disease
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency(2006)755 cited
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA(2012)358 cited