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Communications Biology|June 17, 2022
MALAT1-dependent hsa_circ_0076611 regulates translation rate in triple-negative breast cancerChiara Turco, Gabriella Esposito, Alessia Iaiza, 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.
Scientific Reports|December 2, 2022
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in ItalyMarianthi Karali, Francesco Testa, Valentina Di Iorio, et al.
Iscience|March 22, 2021
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, et al.
Genes|July 2, 2021
The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern ItalyRoberta Russo, Immacolata Andolfo, Vito Alessandro Lasorsa, 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.
Journal of the Peripheral Nervous System : JPNS|September 9, 2024
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathiesAlessandro Geroldi, Andrea La Barbera, Alessia Mammi, 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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