Mattia T. Gentile

Bari, 70012, Italy

Last Updated: 09/26/2026

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Found 62 publications

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. Pediatr. Rep. 2026, 18, 14.

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. Pediatr. Rep. 2026, 18, 14.

Journal: Pediatric reports

Published: February 07, 2026

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.

Journal: Pediatric reports

Published: November 30, 2025

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).

Journal: Case reports in genetics

Published: November 21, 2025

Correction: RUNX1A isoform is overexpressed in acute myeloid leukemia and is associated with FLT3 internal tandem duplications.

Correction: RUNX1A isoform is overexpressed in acute myeloid leukemia and is associated with FLT3 internal tandem duplications.

Journal: Cancer gene therapy

Published: November 03, 2025

Brittle Cornea Syndrome: Molecular Diagnosis and Management.

Brittle Cornea Syndrome: Molecular Diagnosis and Management.

Journal: Diagnostics (Basel, Switzerland)

Published: May 19, 2025

RUNX1A isoform is overexpressed in acute myeloid leukemia and is associated with FLT3 internal tandem duplications.

RUNX1A isoform is overexpressed in acute myeloid leukemia and is associated with FLT3 internal tandem duplications.

Journal: Cancer gene therapy

Published: April 24, 2025

Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications.

Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications.

Journal: Molecular cytogenetics

Published: October 21, 2024

Cardiac Phenotype and Gene Mutations in RASopathies.

Cardiac Phenotype and Gene Mutations in RASopathies.

Journal: Genes

Published: June 13, 2024

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.

Journal: Frontiers in genetics

Published: May 07, 2024

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.

Journal: Genes

Published: November 09, 2023

Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.

Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.

Journal: Annals of clinical and translational neurology

Published: October 21, 2023

First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.

First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: August 09, 2023

Showing 1-12 of 62

Last Updated: 09/26/2026