Claudia Bianchini

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Elena Parrini, Carla Marini, Davide Mei et al. · Human Mutation · 2016 · 162 citations

<i>GNAO1</i> encephalopathy

Federica Rachele Danti, Serena Galosi, Marta Romani et al. · Neurology Genetics · 2017 · 102 citations · Full text

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

Henrike Heyne, Mykyta Artomov, Florian Battke et al. · Genetics in Medicine · 2019 · 60 citations · Full text