Martina A. Muggenthaler - Publications

Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel disease.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: December 30, 2025

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Journal: Circulation. Genomic and precision medicine

Published: November 09, 2020

MNS1 variant associated with situs inversus and male infertility.

Journal: European journal of human genetics : EJHG

Published: March 27, 2019

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

Journal: PLoS genetics

Published: May 05, 2016

Hyaluronidase 2 deficiency is a molecular cause of cor triatriatum sinister in mice.

Journal: International journal of cardiology

Published: December 29, 2015

Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.

Journal: International journal of cardiology

Published: November 16, 2015

Relationship between echocardiographic right-ventricular dimensions and signal-averaged electrocardiogram abnormalities in endurance athletes.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: December 02, 2014

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

Journal: The Journal of clinical investigation

Published: December 04, 2013

Characterization of early repolarization during ajmaline provocation and exercise tolerance testing.

Journal: Heart rhythm

Published: July 24, 2012