Domenica Megalizzi

Rome, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 19 publications

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Journal: Cell death & disease
Published: September 30, 2025

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.

Journal: Clinical genetics
Published: December 18, 2024

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Journal: Genes
Published: December 03, 2024

Federated Learning: Breaking Down Barriers in Global Genomic Research.

Federated Learning: Breaking Down Barriers in Global Genomic Research.

Journal: Genes
Published: December 02, 2024

Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.

Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.

Journal: Diagnostics (Basel, Switzerland)
Published: November 27, 2024

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Journal: Genes
Published: August 01, 2024

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.

Journal: International journal of molecular sciences
Published: July 31, 2024

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Journal: Clinical epigenetics
Published: June 18, 2024

Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.

Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.

Journal: Genes
Published: February 29, 2024

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Journal: Clinical genetics
Published: October 04, 2023

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.

Journal: Frontiers in genetics
Published: June 06, 2023

Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.

Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.

Journal: Electrophoresis
Published: March 21, 2023
Showing 1-12 of 19

Last Updated: 09/26/2026