Antonella Riva

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa et al. · The American Journal of Human Genetics · 2021 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins et al. · Nature Communications · 2023 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi et al. · Nature Neuroscience · 2024 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus

Antonella Riva, Elisabetta Amadori, Maria Stella Vari et al. · ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics · 2022 · 55 citations · Full text

Medicine, Neurology, Pediatrics +10

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Marcello Scala, Irene Schiavetti, Francesca Madia et al. · Cancers · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +17