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Epigenomics|November 5, 2025
Advancing epigenetic signatures as functional biomarkers in rare diseasesAndrea Ciolfi, Marco Ferilli, Camilla Cappelletti, et al.
Biotechnology for Biofuels and Bioproducts|April 8, 2024
Structural and functional analysis of the active cow rumen's microbial community provides a catalogue of genes and microbes participating in the deconstruction of cardoon biomassAndrea Firrincieli, Andrea Minuti, Martina Cappelletti, et al.
Clinical Genetics|June 16, 2025
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation ProfilingMathis Hildonen, Marco Ferilli, Ilona Krey, et al.
Clinical Genetics|January 27, 2023
DNA methylation signature classification of rare disorders using publicly available methylation dataMathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, et al.
Genes|February 26, 2025
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear AnomaliesLuigi Chiriatti, Manuela Priolo, Roberta Onesimo, et al.
Genes|October 29, 2025
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular MusclesCecilia Mancini, Luigi Chiriatti, Alessandro Bruselles, et al.
Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
Genes|July 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide DeficiencyDavide Politano, Cecilia Mancini, Massimiliano Celario, et al.
Brain Communications|December 9, 2022
Adult-onset KMT2B-related dystoniaEdoardo Monfrini, Andrea Ciolfi, Francesco Cavallieri, et al.
European Journal of Human Genetics : EJHG|March 26, 2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicismMarcello Niceta, Andrea Ciolfi, Marco Ferilli, et al.
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