Emma Colao

Catanzaro, 88100, Italy

Last Updated: 09/26/2026

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Found 23 publications

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Journal: Genes
Published: May 07, 2026

Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.

Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.

Journal: Genes
Published: July 08, 2025

Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.

Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.

Journal: Genes
Published: May 23, 2025

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Journal: Current issues in molecular biology
Published: October 21, 2024

Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.

Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.

Journal: Genes
Published: December 11, 2023

Kinase Inhibitors in Genetic Diseases.

Kinase Inhibitors in Genetic Diseases.

Journal: International journal of molecular sciences
Published: January 13, 2023

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.

Journal: Genes
Published: October 26, 2022

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Journal: Genes
Published: June 23, 2022

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.

Journal: Genes
Published: August 30, 2021

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Journal: Genes
Published: August 19, 2021

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome.

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome.

Journal: Frontiers in genetics
Published: July 01, 2021

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

Journal: American journal of human genetics
Published: October 07, 2020
Showing 1-12 of 23

Last Updated: 09/26/2026