Associated Papers
The multigenerational impact of long QT syndrome: A Gitxsan perspective.
Huisman LA et al.
Journal of Genetic Counseling, 2025
Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.
Guo L et al.
Reviews in Cardiovascular Medicine, 2025
The Impact of Chronic Disease on the Corrected QT (QTc) Value in Women in a British Columbia First Nations Population.
Marchand M et al.
The Canadian Journal of Cardiology, 2024
A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management.
Bene Watts S et al.
Frontiers in Pediatrics, 2024
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA et al.
Human Molecular Genetics, 2023
Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.
York NS et al.
Frontiers in Cardiovascular Medicine, 2022
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Coban-Akdemir ZH et al.
American Journal of Medical Genetics. Part A, 2020
Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans.
Giudicessi JR et al.
Circulation. Genomic and Precision Medicine, 2020
Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome-Susceptibility Gene-Disease Associations.
Giudicessi JR et al.
Circulation, 2020
Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.
Sucharski HC et al.
Biomolecules, 2020
Human ankyrins and their contribution to disease biology: An update.
Sharma N et al.
Journal of Biosciences, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Ankyrin B and Ankyrin B variants differentially modulate intracellular and surface Cav2.1 levels.
Choi CSW et al.
Molecular Brain, 2019
Ankyrin-B Q1283H Variant Linked to Arrhythmias Via Loss of Local Protein Phosphatase 2A Activity Causes Ryanodine Receptor Hyperphosphorylation.
Zhu W et al.
Circulation, 2018
The genetic architecture of long QT syndrome: A critical reappraisal.
Giudicessi JR et al.
Trends in Cardiovascular Medicine, 2018
The evolving role of ankyrin-B in cardiovascular disease.
Koenig SN et al.
Heart Rhythm, 2017
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.
Swayne LA et al.
Circulation. Cardiovascular Genetics, 2017
Ankyrins and Spectrins in Cardiovascular Biology and Disease.
El Refaey MM et al.
Frontiers in Physiology, 2017