A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disabilityMirella Vinci, Francesco Calı̀, Salvatore Saccone et al.|Scientific Reports|2024Cited by 20
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic EncephalopathyMirella Vinci, Luigi Vetri, Carola Costanza et al.|International Journal of Molecular Sciences|2023Cited by 20
NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific ApplicationsDesiree Brancato, Concetta Federico, Simone Treccarichi et al.|International Journal of Molecular Sciences|2025Cited by 15
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance PathwaysSimone Treccarichi, Francesco Calı̀, Pinella Failla et al.|Genes|2024Cited by 11
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in MyopathyMirella Vinci, Maurizio Elia, Girolamo Aurelio Vitello et al.|Current Issues in Molecular Biology|2024Cited by 7