Associated Papers
Sudden death-associated KCNH2 variants exert opposing effects on a nuclear subdomain of the cardiac potassium channel hERG1.
Sanchez-Conde FG et al.
The Journal of Biological Chemistry, 2026
Sudden Death-Associated KCNH2 Variants Have Opposing Effects on hERG1NP Function.
Sanchez-Conde FG et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.
Gibbs C et al.
Journal of the American Heart Association, 2018
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
Andreasen C et al.
The Canadian Journal of Cardiology, 2013
Current pharmacogenomic studies on hERG potassium channels.
He FZ et al.
Trends in Molecular Medicine, 2013
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Opioid maintenance patients with QTc prolongation: congenital long QT syndrome mutation may be a contributing risk factor.
Anchersen K et al.
Drug and Alcohol Dependence, 2010
Cardiac potassium channel dysfunction in sudden infant death syndrome.
Rhodes TE et al.
Journal of Molecular and Cellular Cardiology, 2008
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
Berge KE et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2008