Publications by authors named "A Ciolfi"

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Andrea Ciolfi

J Clin Invest· November 2025

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Advancing epigenetic signatures as functional biomarkers in rare diseases.
Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Marco Tartaglia

Epigenomics· November 2025

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To sign or not to sign: Is this still the question?
Marco Tartaglia, Andrea Ciolfi

Eur J Hum Genet· October 2025

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The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.
Cecilia Mancini, Luigi Chiriatti, Alessandro Bruselles, Paola D'ambrosio, Andrea Ciolfi

Genes (Basel)· October 2025

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Interacts with Hormone-Related Gene Regulatory Networks Involved in Biotic and Abiotic Stress Responses in .
Valentina Forte, Sabrina Lucchetti, Andrea Ciolfi, Barbara Felici, Marco Possenti

Cells· September 2025

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