Viola Doccini

发表论文 19 篇 · 总被引 1049 次 · h-index 14

代表论文

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019 · bioRxiv · 被引 262)
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. (2013 · European journal of paediatric neurology · 被引 206)
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture (2023 · Nature Genetics · 被引 186)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020 · Brain : a journal of neurology · 被引 74)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021 · American Journal of Human Genetics · 被引 54)
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study (2020 · Epilepsia · 被引 49)