Associated Papers
Efficient Installation of Heterozygous Mutations in Human Pluripotent Stem Cells Using Prime Editing.
Suter A et al.
The Crispr Journal, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.
Mansoorshahi S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death.
Vokač D et al.
Genes, 2024
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.
Tambi R et al.
Physiological Genomics, 2023
Elucidation of the genetic causes of bicuspid aortic valve disease.
Gehlen J et al.
Cardiovascular Research, 2023
Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.
Anfinson M et al.
Journal of Cardiovascular Development and Disease, 2022
Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta.
Zhu W et al.
Genes, 2022
Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.
van Wijk SW et al.
Cells, 2022
Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.
Hsieh J et al.
Frontiers in Cell and Developmental Biology, 2022
Association of the MYH6 Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy.
Fu T et al.
Genetic Testing and Molecular Biomarkers, 2021
Genetic insight into sick sinus syndrome.
Thorolfsdottir RB et al.
European Heart Journal, 2021
Genetic insight into sick sinus syndrome.
Thorolfsdottir RB et al.
European Heart Journal, 2021
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Genome-wide association studies of structural birth defects: A review and commentary.
Lupo PJ et al.
Birth Defects Research, 2019
Sequence variants with large effects on cardiac electrophysiology and disease.
Norland K et al.
Nature Communications, 2019
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.
Bjornsson T et al.
European Heart Journal, 2018
Congenital heart and aortic disease: novel genetic causes, biomarkers, and effect of pregnancy.
Lüscher TF
European Heart Journal, 2018
Genotype Imputation from Large Reference Panels.
Das S et al.
Annual Review of Genomics and Human Genetics, 2018
Genome-wide analysis yields new loci associating with aortic valve stenosis.
Helgadottir A et al.
Nature Communications, 2018
Inherited bradyarrhythmia: A diverse genetic background.
Ishikawa T et al.
Journal of Arrhythmia, 2016
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Bowles NE et al.
American Journal of Medical Genetics. Part A, 2015
Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.
Lam L et al.
Heartrhythm Case Reports, 2015
Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome.
Ishikawa T et al.
Circulation. Arrhythmia and Electrophysiology, 2015
The personal genome browser: visualizing functions of genetic variants.
Juan L et al.
Nucleic Acids Research, 2014
[Genetic predictors of sick sinus node syndrome].
Chernova AA et al.
Kardiologiia, 2013
Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.
Zhu Q et al.
American Journal of Human Genetics, 2012
Common genetic variation modulating cardiac ECG parameters and susceptibility to sudden cardiac death.
Kolder IC et al.
Journal of Molecular and Cellular Cardiology, 2012
Blindly using Wald's test can miss rare disease-causal variants in case-control association studies.
Xing G et al.
Annals of Human Genetics, 2012
Next-generation association studies for complex traits.
Zeggini E
Nature Genetics, 2011
A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Holm H et al.
Nature Genetics, 2011