Jirko Kuhnisch

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 24 publications

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy.

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy.

Journal: HGG advances

Published: November 07, 2025

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Journal: Frontiers in neuroscience

Published: August 29, 2024

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.

Journal: Cardiovascular research

Published: January 19, 2023

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Journal: Journal of cardiovascular development and disease

Published: May 19, 2022

Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.

Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.

Journal: Journal of cardiovascular development and disease

Published: April 19, 2022

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.

Journal: Scientific reports

Published: January 12, 2022

Midwall Fibrosis and Cardiac Mechanics: Rigid Body Rotation Is a Novel Marker of Disease Severity in Pediatric Primary Dilated Cardiomyopathy.

Midwall Fibrosis and Cardiac Mechanics: Rigid Body Rotation Is a Novel Marker of Disease Severity in Pediatric Primary Dilated Cardiomyopathy.

Journal: Frontiers in cardiovascular medicine

Published: November 05, 2021

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.

Journal: Circulation. Genomic and precision medicine

Published: July 02, 2021

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.

Journal: Frontiers in pediatrics

Published: June 09, 2021

Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.

Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.

Journal: Stem cell research

Published: June 07, 2021

Diffuse myocardial fibrosis by T1 mapping is associated with heart failure in pediatric primary dilated cardiomyopathy.

Diffuse myocardial fibrosis by T1 mapping is associated with heart failure in pediatric primary dilated cardiomyopathy.

Journal: International journal of cardiology

Published: June 22, 2020

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.

Journal: Journal of the American Heart Association

Published: May 16, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026