When genetic burden reaches threshold

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

(2019) Ozlem Senol-Cosar et al.   GENETICS IN MEDICINE

Genome-Wide Analysis of Left Ventricular Image-Derived Phenotypes Identifies Fourteen Loci Associated with Cardiac Morphogenesis and Heart Failure Development

(2019) Nay Aung et al.   CIRCULATION

Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores

(2019) Rafik Tadros et al.   EUROPEAN HEART JOURNAL

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

(2018) Francesco Mazzarotto et al.   GENETICS IN MEDICINE

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant

(2018) Conor M. Lane et al.   HEART RHYTHM

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

(2017) Philipp S. Wild et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

(2017) Ulrike Esslinger et al.   PLoS One

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Genetics of Sudden Cardiac Death

(2015) C. R. Bezzina et al.   CIRCULATION RESEARCH

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2CLINICAL PERSPECTIVE

(2015) Iris C.R.M. Kolder et al.   Circulation-Cardiovascular Genetics

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2CLINICAL PERSPECTIVE

(2015) Iris C.R.M. Kolder et al.   Circulation-Cardiovascular Genetics

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

(2014) Dan E Arking et al.   NATURE GENETICS

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome

(2013) Sabine Duchatelet et al.   Circulation-Cardiovascular Genetics

Obesity and its Association to Phenotype and Clinical Course in Hypertrophic Cardiomyopathy

(2013) Iacopo Olivotto et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

(2013) Connie R Bezzina et al.   NATURE GENETICS

Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy

(2012) Eric C. Wooten et al.   Circulation-Cardiovascular Genetics

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

KCNE1D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?

(2011) Annukka M Lahtinen et al.   BMC Medical Genetics

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

(2010) S. Wordsworth et al.   EUROPEAN HEART JOURNAL

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

(2009) Vincent Probst et al.   Circulation-Cardiovascular Genetics

D85N, a KCNE1 Polymorphism, Is a Disease-Causing Gene Variant in Long QT Syndrome

(2009) Yukiko Nishio et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY