Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

(2020) Najim Lahrouchi et al.   CIRCULATION

High-Throughput Reclassification of SCN5A Variants

(2020) Andrew M. Glazer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

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

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

(2018) Latrice G. Landry et al.   JAMA Cardiology

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Systematic Re-evaluation of SCN5A Variants Associated with Brugada Syndrome

(2018) Nathan C Denham et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

(2017) Najim Lahrouchi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Enhanced Classification of Brugada Syndrome–Associated and Long-QT Syndrome–Associated Genetic Variants in theSCN5A-Encoded Nav1.5 Cardiac Sodium ChannelCLINICAL PERSPECTIVE

(2015) Jamie D. Kapplinger et al.   Circulation-Cardiovascular Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

(2015) Jamie D. Kapplinger et al.   Journal of Cardiovascular Translational Research

Enhanced Classification of Brugada Syndrome–Associated and Long-QT Syndrome–Associated Genetic Variants in theSCN5A-Encoded Nav1.5 Cardiac Sodium ChannelCLINICAL PERSPECTIVE

(2015) Jamie D. Kapplinger et al.   Circulation-Cardiovascular Genetics

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa 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

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM