Maria E. Onore

Naples, 80138, Italy

Last Updated: 09/26/2026

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Found 18 publications

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP.

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP.

Journal: Genes

Published: November 17, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

Journal: American journal of medical genetics. Part A

Published: November 20, 2024

Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

Journal: Human mutation

Published: September 13, 2024

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.

Journal: Biomolecules

Published: March 28, 2024

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: December 05, 2023

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

Journal: Genes

Published: December 04, 2023

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Journal: European journal of human genetics : EJHG

Published: August 25, 2023

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: February 22, 2023

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

Journal: International journal of molecular sciences

Published: November 09, 2022

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Journal: Genes

Published: November 07, 2022

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Journal: Scientific reports

Published: May 28, 2022

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Last Updated: 09/26/2026