Associated Papers
Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.
Rao VJ et al.
Journal of the American Heart Association, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Micolonghi C et al.
International Journal of Molecular Sciences, 2024
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation Journal, 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
Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims.
Holmström L et al.
Scientific Reports, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.
Sicko RJ et al.
Plos One, 2016
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG et al.
Plos One, 2011
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.
Carniel E et al.
Circulation, 2005