Luca Colantoni

Rome, Italy

Last Updated: 09/26/2026

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Found 13 publications

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

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

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

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.

Journal: Cells

Published: September 28, 2022

Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.

Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.

Journal: Genes

Published: July 29, 2022

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.

Journal: Cells

Published: July 20, 2022

Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samples.

Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samples.

Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Published: March 04, 2021

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

Journal: Human molecular genetics

Published: July 29, 2019

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Journal: Neurogenetics

Published: January 14, 2019

Showing 1-12 of 13

Last Updated: 09/26/2026