Delphine Bouteiller
Centre National de la Recherche Scientifique(FR)Inserm(FR)Sorbonne Université(FR)Pitié-Salpêtrière Hospital(FR)Institut du Cerveau(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Endometriosis Research and Treatment, Endometrial and Cervical Cancer Treatments, Genomics and Rare Diseases
Most-Cited Works
- → Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females(2009)368 cited
- → Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients(2008)362 cited
- → De novo mutations in HCN1 cause early infantile epileptic encephalopathy(2014)234 cited
- → Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3(2019)169 cited
- → Single-cell RNA sequencing of blood antigen-presenting cells in severe COVID-19 reveals multi-process defects in antiviral immunity(2021)161 cited
- → Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders(2009)160 cited