Debby I. Hellebrekers

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 39 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine

Published: June 15, 2026

Genetic counselling implementation in dilated cardiomyopathy.

Genetic counselling implementation in dilated cardiomyopathy.

Journal: European heart journal

Published: March 20, 2026

Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy.

Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy.

Journal: Circulation. Heart failure

Published: September 24, 2025

Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease.

Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease.

Journal: JACC. Heart failure

Published: June 07, 2024

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Journal: Circulation. Genomic and precision medicine

Published: March 22, 2024

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Journal: Nature communications

Published: December 08, 2023

Genome sequencing as a generic diagnostic strategy for rare disease.

Genome sequencing as a generic diagnostic strategy for rare disease.

Journal: Genome medicine

Published: September 21, 2023

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.

Journal: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

Published: May 30, 2023

Couples with risk of a child with a mitochondrial disease: wat are the reproductive options?

Couples with risk of a child with a mitochondrial disease: wat are the reproductive options?

Journal: Nederlands tijdschrift voor geneeskunde

Published: May 10, 2023

Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.

Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine

Published: March 27, 2023

Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI.

Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI.

Journal: Radiology. Cardiothoracic imaging

Published: January 16, 2023

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.

Journal: Nature communications

Published: November 22, 2022

Showing 1-12 of 39

Last Updated: 09/26/2026