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Circulation. Genomic and Precision Medicine|July 2, 2021
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric MyocarditisFranziska Seidel, Manuel Holtgrewe, Nadya Al-Wakeel-Marquard, et al.
Circulation|May 29, 2008
Mutations in sarcomere protein genes in left ventricular noncompactionSabine Klaassen, Susanne Probst, Erwin Oechslin, et al.
Stem Cell Research|August 10, 2021
Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathyNele Warnecke, Bärbel M Ulmer, Sandra D Laufer, et al.
Clinical Genetics|October 1, 2019
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3Jirko Kühnisch, Christopher Herbst, Nadya Al-Wakeel-Marquard, et al.
Cardiovascular Research|October 16, 2023
Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulatorsJirko Kühnisch, Simon Theisen, Josephine Dartsch, et al.
Journal of the American Heart Association|May 16, 2020
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin GeneWolfgang Poller, Jan Haas, Karin Klingel, et al.
Circulation. Cardiovascular Genetics|December 4, 2010
Mutations in the sarcomere gene MYH7 in Ebstein anomalyAlex V Postma, Klaartje van Engelen, Judith van de Meerakker, et al.
European Journal of Preventive Cardiology|October 31, 2021
External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathyGabrielle Norrish, Chen Qu, Ella Field, et al.
American Journal of Human Genetics|June 18, 2013
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathyAnne-Karin Arndt, Sebastian Schafer, Jorg-Detlef Drenckhahn, et al.
NPJ Genomic Medicine|June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome studyEnrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
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