Matteo Iacoviello

Castellana, Italy

Last Updated: 09/26/2026

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Found 15 publications

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Journal: Human mutation

Published: May 13, 2026

Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing.

Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing.

Journal: Biomedicines

Published: October 29, 2025

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion.

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion.

Journal: International journal of molecular sciences

Published: June 30, 2025

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience.

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience.

Journal: Biomedicines

Published: May 09, 2024

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.

Journal: Genes

Published: November 05, 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

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Journal: Genes

Published: June 23, 2023

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

Journal: Genes, chromosomes & cancer

Published: April 22, 2023

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.

Journal: European journal of internal medicine

Published: March 27, 2023

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Journal: Genes, chromosomes & cancer

Published: March 28, 2022

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Journal: Cancers

Published: December 09, 2021

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Journal: Journal of medical genetics

Published: July 11, 2021

Showing 1-12 of 15

Last Updated: 09/26/2026