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Journal of Medical Genetics|September 17, 2025
GAPO syndrome: a comprehensive examination and review of 105 clinical casesClarissa Modafferi, Pino D'Ambrosio, Silvia Andaloro, et al.
Genes|July 27, 2022
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant PhenotypeFilomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, et al.
NAR Molecular Medicine|February 4, 2026
FMR1 RNA interaction with DNMT1 blocks DNA methylation at the FMR1 locusVeronica Nobile, Benedetta Niccolini, Cecilia Pucci, et al.
Journal of Crohn'S & Colitis|December 29, 2025
Inflammatory Bowel Disease is associated with increased intestinal extrachromosomal circular DNA: an emerging biomarker for IBD type and activityValentina Petito, Daniela Gerovska, Antonia Piazzesi, et al.
Human Genetics|January 11, 2020
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 geneVeronica Nobile, Federica Palumbo, Stella Lanni, et al.
American Journal of Medical Genetics. Part A|February 21, 2008
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boysM Giulia Torrioli, Silvia Vernacotola, Laura Peruzzi, et al.
Genes|April 1, 2020
DNA Methylation in the Diagnosis of Monogenic DiseasesFlavia Cerrato, Angela Sparago, Francesca Ariani, et al.
Stem Cell Reports|November 15, 2016
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full MutationsUrszula Brykczynska, Eline Pecho-Vrieseling, Anke Thiemeyer, et al.
Plos One|January 17, 2025
Environmental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposomeLeonardo Villani, Angelo Maria Pezzullo, Roberta Pastorino, et al.
Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.
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