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Journal of Cardiovascular Development and Disease|November 25, 2021
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature ReviewValentina Lodato, Valeria Orlando, Viola Alesi, et al.Genes|September 27, 2025
Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue DisordersAlessandra Di Pede, Monia Magliozzi, Laura Valfré, 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.Frontiers in Psychiatry|January 30, 2024
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reportsFederica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, et al.Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, 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.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.Frontiers in Psychiatry|February 28, 2024
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reportsFederica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, et al.Biomolecules|May 27, 2023
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated RearrangementsViola Alesi, Silvia Genovese, Francesca Romana Lepri, et al.Pageof 7