Sophie Julia

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

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 236 citations · Full text

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 134 citations · Full text

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley C. Adès et al. · The American Journal of Human Genetics · 2012 · 110 citations · Full text

Developmental Anomaly, In-frame Mutations, Mendelian Disorder +6

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre, Véronique Abadie, Tania Attié‐Bitach et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 75 citations · Full text