Raffaella Minardi

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

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

Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients

Laura Licchetta, Tommaso Pippucci, Sara Baldassari et al. · Seizure · 2019 · 47 citations · Full text

Sleep Disorders, Sleep, Sleep Disorder +10

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Vilma Mantovani, Sofia Bin, Claudio Graziano et al. · Frontiers in Genetics · 2020 · 44 citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +22

Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late

Raffaella Minardi, Laura Licchetta, Maria Chiara Baroni et al. · Clinical Genetics · 2020 · 43 citations

Neurogenomics, Brain Development, Neurological Disorder +21