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Molecular Genetics & Genomic Medicine|January 29, 2025
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing LossMargherita Scarpato, Francesco Testa, Anna Nesti, et al.
Cancers|November 24, 2019
High Somatic Mutation and Neoantigen Burden Do Not Correlate with Decreased Progression-Free Survival in HCC Patients not Undergoing ImmunotherapyAngela Mauriello, Roberta Zeuli, Beatrice Cavalluzzo, et al.
Plos One|August 20, 2020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD geneAnnalaura Torella, Mariateresa Zanobio, Roberta Zeuli, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variantsCristina Peduto, Gerarda Cappuccio, Roberta Zeuli, et al.
Journal of Neurology|July 7, 2023
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4AAnnalaura Torella, Ivana Ricca, Giulio Piluso, et al.
HGG Advances|May 31, 2024
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patientsRoberta Zeuli, Marianthi Karali, Suzanne E de Bruijn, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, 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.
European Journal of Human Genetics : EJHG|December 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing lossMarianthi Karali, Gema García-García, Karolina Kaminska, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
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