Related references
Note: Only part of the references are listed.Monogenic and Polygenic Contributions to QTc Prolongation in the Population
Victor Nauffal et al.
CIRCULATION (2022)
GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes
Rachel L. Draelos et al.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2022)
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Julien Barc et al.
NATURE GENETICS (2022)
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2
Chai-Ann Ng et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2022)
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Xiaolei Zhang et al.
GENETICS IN MEDICINE (2021)
Structure of human Nav1.5 reveals the fast inactivation-related segments as a mutational hotspot for the long QT syndrome
Zhangqiang Li et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)
Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease
Victoria N. Parikh
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2021)
MLb-LDLr A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
Asier Larrea-Sebal et al.
JACC-BASIC TO TRANSLATIONAL SCIENCE (2021)
Mutation location and IKs requlation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region
Peter J. Schwartz et al.
EUROPEAN HEART JOURNAL (2021)
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants
Krystian Kozek et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2021)
Structural Basis of Human KCNQ1 Modulation and Gating
Ji Sun et al.
CELL (2020)
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
Arnon Adler et al.
CIRCULATION (2020)
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
Najim Lahrouchi et al.
CIRCULATION (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Inherited cardiac arrhythmias
Peter J. Schwartz et al.
NATURE REVIEWS DISEASE PRIMERS (2020)
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Henrike O. Heyne et al.
SCIENCE TRANSLATIONAL MEDICINE (2020)
A Bayesian method to estimate variant-induced disease penetrance
Brett M. Kroncke et al.
PLOS GENETICS (2020)
Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening
Po Wei Kang et al.
SCIENCE ADVANCES (2020)
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Caroline F. Wright et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1
Brett M. Kroncke et al.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2019)
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing
John R. Giudicessi et al.
CIRCULATION (2018)
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
S. Mohsen Hosseini et al.
CIRCULATION (2018)
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant
Conor M. Lane et al.
HEART RHYTHM (2018)
Predicting changes to INa from missense mutations in human SCN5A
Michael Clerx et al.
SCIENTIFIC REPORTS (2018)
Clinical Spectrum of SCN5A Mutations Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy
Arthur A. M. Wilde et al.
JACC-CLINICAL ELECTROPHYSIOLOGY (2018)
Cryo-EM Structure of a KCNQ1/CaM Complex Reveals Insights into Congenital Long QT Syndrome
Ji Sun et al.
CELL (2017)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Yongwook Choi et al.
BIOINFORMATICS (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
Inappropriate Implantable Cardioverter-Defibrillator Shocks Incidence, Predictors, and Impact on Mortality
Johannes B. van Rees et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)
Genetic Heterogeneity in Human Disease
Jon McClellan et al.
CELL (2010)
Who Are the Long-QT Syndrome Patients Who Receive an Implantable Cardioverter-Defibrillator and What Happens to Them? Data From the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry
Peter J. Schwartz et al.
CIRCULATION (2010)
Genetic Testing for Long-QT Syndrome Distinguishing Pathogenic Mutations From Benign Variants
Suraj Kapa et al.
CIRCULATION (2009)
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test
Jamie D. Kapplinger et al.
HEART RHYTHM (2009)
Genetic testing in the long QT syndrome - Development and validation of an efficient approach to genotyping in clinical practice
C Napolitano et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Share Paper
