Elisabetta Amadori

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 · 58 citations · Full text

Mendelian Disorder, Female Infertility, Whole-exome Sequencing Study +9

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 · 53 citations · Full text

Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

Ganna Balagura, Julie Xian, Antonella Riva et al. · Neurology Genetics · 2022 · 40 citations · Full text

Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants

Federica Malerba, Giulio Alberini, Ganna Balagura et al. · Neurology Genetics · 2020 · 35 citations · Full text

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda et al. · ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics · 2020 · 29 citations · Full text