Associated Papers
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.
Groen K et al.
Diagnostics (basel, Switzerland), 2022
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
Pousada G et al.
Plos One, 2014
Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.
Fedele F et al.
Basic Research in Cardiology, 2013
Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation.
Christophersen IE et al.
European Heart Journal, 2013
Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk.
Mann SA et al.
Journal of the American College of Cardiology, 2012
Channelopathies linked to plasma membrane phosphoinositides.
Logothetis DE et al.
Pflugers Archiv : European Journal of Physiology, 2010
Pharmacogenetics of drug-induced arrhythmias.
Abbott GW et al.
Expert Review of Clinical Pharmacology, 2008
Electrophysiological characterization of three non-synonymous single nucleotide polymorphisms (R87Q, A251T, and P307S) found in hKv1.5.
Plante I et al.
Pflugers Archiv : European Journal of Physiology, 2006
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Polymorphism screening in the cardiac K+ channel gene KCNA5.
Simard C et al.
Clinical Pharmacology and Therapeutics, 2005