An International Multicenter Evaluation of Type 5 Long QT Syndrome

From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome Type 2

(2019) Peter J Schwartz et al.   EUROPEAN HEART JOURNAL

Mexiletine Shortens the QT Interval in Patients With Potassium Channel–Mediated Type 2 Long QT Syndrome

(2019) J. Martijn Bos et al.   Circulation-Arrhythmia and Electrophysiology

Clinical aspects of the three major genetic forms of long QT syndrome (LQT1, LQT2, LQT3)

(2018) Valentina Kutyifa et al.   ANNALS OF NONINVASIVE ELECTROCARDIOLOGY

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

(2018) John R. Giudicessi et al.   CIRCULATION

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

Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome

(2018) Andrea Mazzanti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3

(2016) Andrea Mazzanti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The KCNE2 K+ channel regulatory subunit: Ubiquitous influence, complex pathobiology

(2015) Geoffrey W. Abbott   GENE

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

Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome

(2014) Peter Weeke et al.   JOURNAL OF THE AMERICAN COLLEGE OF 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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols