Reclassification of genetic variants in children with long QT syndrome

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

(2020) Arnon Adler et al.   CIRCULATION

Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign

(2019) Connor L. Mattivi et al.   HEART RHYTHM

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing

(2018) John R. Giudicessi et al.   CIRCULATION

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign

(2018) Daniel J. Clemens et al.   HEART RHYTHM

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

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

2017 ACC/AHA/HRS guideline for the evaluation and management of patients with syncope

(2017) Win-Kuang Shen et al.   HEART RHYTHM

Molecular Pathophysiology of Congenital Long QT Syndrome

(2017) M. S. Bohnen et al.   PHYSIOLOGICAL REVIEWS

Inherited ion channel diseases: a brief review

(2015) Krystien V.V. Lieve et al.   EUROPACE

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

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome

(2014) Corey L. Anderson et al.   Nature Communications

An In Vivo Cardiac Assay to Determine the Functional Consequences of Putative Long QT Syndrome Mutations

(2013) Chuanchau J. Jou et al.   CIRCULATION RESEARCH

Genotype- and Phenotype-Guided Management of Congenital Long QT Syndrome

(2013) John R. Giudicessi et al.   CURRENT PROBLEMS IN CARDIOLOGY

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

Long-QT Syndrome

(2012) Peter J. Schwartz et al.   Circulation-Arrhythmia and Electrophysiology

QTc Behavior During Exercise and Genetic Testing for the Long-QT Syndrome

(2011) Peter J. Schwartz et al.   CIRCULATION

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

(2011) A. L. Lahti et al.   Disease Models & Mechanisms

The crystal structure of a voltage-gated sodium channel

(2011) Jian Payandeh et al.   NATURE

Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals

(2010) Ilan Goldenberg et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

High prevalence of four long QT syndrome founder mutations in the Finnish population

(2009) Annukka Marjamaa et al.   ANNALS OF MEDICINE

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION