Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
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
Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.
Nichols CG
The Journal of Physiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.
Badura K et al.
International Journal of Molecular Sciences, 2024
Personalized Therapeutics for KATP-Dependent Pathologies.
Nichols CG
Annual Review of Pharmacology and Toxicology, 2023
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.
Shrestha R et al.
Cancer Research, 2021
The Pharmacology of ATP-Sensitive K+ Channels (KATP).
Li Y et al.
Handbook of Experimental Pharmacology, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.
Huang Y et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
Bottillo I et al.
Gene, 2016
Phosphorylation-dependent changes in nucleotide binding, conformation, and dynamics of the first nucleotide binding domain (NBD1) of the sulfonylurea receptor 2B (SUR2B).
de Araujo ED et al.
The Journal of Biological Chemistry, 2015
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
Celestino-Soper PB et al.
Plos One, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.
Hu D et al.
International Journal of Cardiology, 2014
Coronary spasm and acute myocardial infarction due to a mutation (V734I) in the nucleotide binding domain 1 of ABCC9.
Smith KJ et al.
International Journal of Cardiology, 2013
Advances in cardiac ATP-sensitive K+ channelopathies from molecules to populations.
Terzic A et al.
Circulation. Arrhythmia and Electrophysiology, 2011
A novel custom resequencing array for dilated cardiomyopathy.
Zimmerman RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Quaternary structure of KATP channel SUR2A nucleotide binding domains resolved by synchrotron radiation X-ray scattering.
Park S et al.
Journal of Structural Biology, 2010
The sulfonylurea receptor, an atypical ATP-binding cassette protein, and its regulation of the KATP channel.
Burke MA et al.
Circulation Research, 2008
A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction.
Minoretti P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006