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American Journal of Medical Genetics. Part A|September 28, 2020
PPP1R21-related syndromic intellectual disability: Report of an adult patient and reviewSara Loddo, Viola Alesi, Francesca Clementina Radio, et al.American Journal of Medical Genetics. Part A|March 3, 2022
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disabilityGiorgia Catino, Silvia Genovese, Silvia Di Tommaso, et al.Clinical Case Reports|January 28, 2021
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature reviewAurora Arghir, Sorina Mihaela Papuc, Andreea-Cristina Tutulan-Cunita, et al.Cytogenetic and Genome Research|October 30, 2018
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated DisorderSara Loddo, Viola Alesi, Silvia Genovese, et al.American Journal of Medical Genetics. Part A|May 31, 2019
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndromeViola Alesi, Sara Loddo, Federica Calì, et al.Molecular Cytogenetics|October 15, 2025
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangementLudovico Graziani, Silvia Genovese, Maria Luce Genovesi, et al.Biomolecules|November 27, 2024
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic DiagnosticsMaria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo, et al.International Journal of Molecular Sciences|November 11, 2022
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic EncephalopathyValeria Orlando, Silvia Di Tommaso, Viola Alesi, et al.Journal of Cardiovascular Development and Disease|October 26, 2022
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen PatientsAnwar Baban, Viola Alesi, Monia Magliozzi, et al.International Journal of Molecular Sciences|January 16, 2021
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset OsteoporosisViola Alesi, Maria Lisa Dentici, Silvia Genovese, et al.Pageof 4