Genetics of long-QT syndrome

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives

(2015) C. Semsarian et al.   EUROPEAN HEART JOURNAL

Autonomic Control of Heart Rate and QT Interval Variability Influences Arrhythmic Risk in Long QT Syndrome Type 1

(2015) Alberto Porta et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Physiological Variations, Environmental Factors, and Genetic Modifications in Inherited LQT Syndromes ∗

(2015) Robert J. Myerburg   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

(2014) N. Makita et al.   Circulation-Cardiovascular Genetics

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes

(2014) Megumi Fukuyama et al.   EUROPACE

Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing

(2014) James R. Priest et al.   HEART RHYTHM

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology

(2014) Oscar Campuzano et al.   PLoS One

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: Disease mechanisms and pharmacological rescue

(2014) Miao Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants

(2013) Lia Crotti et al.   CIRCULATION

Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C , Linked to Autosomal Dominant Long QT Syndrome

(2013) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

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

Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome

(2013) Nikki Earle et al.   HEART RHYTHM

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events

(2012) Alon Barsheshet et al.   CIRCULATION

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

(2012) Lena Refsgaard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome

(2012) Li Liu et al.   HEART RHYTHM

Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics

(2012) Cecile Terrenoire et al.   JOURNAL OF GENERAL PHYSIOLOGY

Cardiac Sodium Channel Nav1.5 Mutations and Cardiac Arrhythmia

(2012) Weihua Song et al.   PEDIATRIC CARDIOLOGY

L-Type Ca2+ Channel Function During Timothy Syndrome

(2012) Rose E. Dixon et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Exome Sequencing Deciphers Rare Diseases

(2011) Amy Maxmen   CELL

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

(2011) Peter J. Schwartz et al.   CIRCULATION

Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Sodium Channel

(2011) Arthur A.M. Wilde et al.   CIRCULATION RESEARCH

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

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

Mechanisms of disease pathogenesis in long QT syndrome type 5

(2009) Stephen C. Harmer et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

(2009) Wataru Shimizu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

(2009) Arne Pfeufer et al.   NATURE GENETICS

Common variants at ten loci influence QT interval duration in the QTGEN Study

(2009) Christopher Newton-Cheh et al.   NATURE GENETICS

Exome sequencing makes medical genomics a reality

(2009) Leslie G Biesecker   NATURE GENETICS

Clinical Impact of Genetic Studies in Lethal Inherited Cardiac Arrhythmias

(2008) Wataru Shimizu   CIRCULATION JOURNAL