Delphine Bouteiller

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren et al. · PLoS Genetics · 2009 · 368 citations · Full text

Mainly Affects Females, Dravet Syndrome, Mendelian Disorder +15

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava, Carine Dalle, Agnès Rastetter et al. · Nature Genetics · 2014 · 230 citations · Full text

Genetic Disorder, Genetics, Neuroscience +4

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Rahel T. Florian, Florian Kraft, Elsa Leitão et al. · Nature Communications · 2019 · 161 citations · Full text

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron et al. · Biological Psychiatry · 2009 · 159 citations · Full text

Methylation Abnormalities, Autism Spectrum Disorders, Medicine +11

Single-cell RNA sequencing of blood antigen-presenting cells in severe COVID-19 reveals multi-process defects in antiviral immunity

Mélissa Saichi, Maha Zohra Ladjemi, Sarantis Korniotis et al. · Nature Cell Biology · 2021 · 156 citations · Full text