Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2025
Prioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.
Leung HT et al.
Pediatric Cardiology, 2024
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Biorxiv : the Preprint Server for Biology, 2023
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.
Garmany R et al.
Heart Rhythm, 2020
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Roberts JD et al.
Circulation, 2020
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Marcondes L et al.
Plos One, 2018
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
Genetic variation in human drug-related genes.
Schärfe CPI et al.
Genome Medicine, 2017
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
Coll M et al.
Plos One, 2017
Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.
Hayashi K et al.
Jacc. Clinical Electrophysiology, 2016
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
Interpreting secondary cardiac disease variants in an exome cohort.
Ng D et al.
Circulation. Cardiovascular Genetics, 2013
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.
Skinner JR et al.
Heart Rhythm, 2011
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
Mechanisms of disease pathogenesis in long QT syndrome type 5.
Harmer SC et al.
American Journal of Physiology. Cell Physiology, 2010
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Ohno S et al.
Heart Rhythm, 2007
Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function.
Wu DM et al.
Heart Rhythm, 2006
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000