Edgar T. Hoorntje

Groningen, GR 9713GZ, Netherlands

Last Updated: 09/26/2026

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Found 22 publications

Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.

Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.

Journal: International journal of cardiology

Published: January 31, 2025

A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers.

A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers.

Journal: European heart journal

Published: May 20, 2023

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Journal: Circulation. Genomic and precision medicine

Published: December 29, 2022

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

Journal: Journal of cardiovascular translational research

Published: December 21, 2022

Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST).

Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST).

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

Published: May 03, 2021

Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.

Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.

Journal: Circulation. Genomic and precision medicine

Published: February 10, 2021

Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy.

Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy.

Journal: Scientific reports

Published: October 03, 2020

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Journal: Nature genetics

Published: February 28, 2020

The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.

The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.

Journal: Scientific reports

Published: January 28, 2020

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Journal: Circulation. Genomic and precision medicine

Published: May 22, 2019

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.

Journal: Nature communications

Published: October 22, 2018

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.

Journal: The Journal of clinical investigation

Published: October 15, 2018

Showing 1-12 of 22

Last Updated: 09/26/2026