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International Journal of Neonatal Screening|August 22, 2025
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential PerspectivesAdelaide Ambrosio, Tiziana Fioretti, Barbara D'Andrea, et al.
Antioxidants (Basel, Switzerland)|December 30, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in PathophysiologyDario Zoppi, Anna Russo, Francesca Vallefuoco, et al.
Diagnostics (Basel, Switzerland)|August 12, 2023
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with BurosumabCarmine Pecoraro, Tiziana Fioretti, Assunta Perruno, et al.
BMC Medical Genetics|February 2, 2017
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variantsGabriella Esposito, Francesco Testa, Miriam Zacchia, et al.
Oncogene|October 27, 2023
SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AMLAntonella Di Mambro, Yoana Arroyo-Berdugo, Tiziana Fioretti, et al.
Biomedicines|May 25, 2024
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic IchthyosisTiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, et al.
Medicina (Kaunas, Lithuania)|February 24, 2024
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western SicilyFabiana D'Esposito, Viviana Randazzo, Maria Igea Vega, et al.
Clinical Genetics|February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier ApproachRoberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.
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