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Frontiers in Genetics|September 7, 2023
Whole exome sequencing highlights rare variants in <i>CTCF</i>, <i>DNMT1</i>, <i>DNMT3A</i>, <i>EZH2</i> and <i>SUV39H1</i> as associated with FSHDClaudia Strafella, Valerio Caputo, Sara Bortolani, et al.
Cells|December 23, 2022
<i>D4Z4</i> Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD PatientsValerio Caputo, Domenica Megalizzi, Carlo Fabrizio, et al.
Clinical Genetics|August 11, 2025
The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy CasesFrancesca Torri, Claudia Strafella, Liliana Vercelli, et al.
Journal of Personalized Medicine|December 29, 2022
Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among PopulationsCarlo Fabrizio, Andrea Termine, Valerio Caputo, et al.
Frontiers in Aging Neuroscience|March 7, 2022
Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's DiseaseClaudia Strafella, Valerio Caputo, Andrea Termine, et al.
Clinical Genetics|December 2, 2023
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian familiesClaudia Strafella, Luca Colantoni, Domenica Megalizzi, et al.
Journal of Personalized Medicine|September 28, 2021
Age and Sex Modulate SARS-CoV-2 Viral Load Kinetics: A Longitudinal Analysis of 1735 SubjectsValerio Caputo, Andrea Termine, Carlo Fabrizio, et al.
Cell Death & Disease|January 29, 2026
Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophyMassimo Ganassi, Claudia Strafella, Marco Savarese, et al.
Clinical Epigenetics|October 23, 2024
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patientsClaudia Strafella, Domenica Megalizzi, Giulia Trastulli, et al.
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