Associated Papers
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Research progress of ankyrin repeat domain 1 protein: an updated review.
Xu X et al.
Cellular & Molecular Biology Letters, 2024
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Niskanen JE et al.
Genome Medicine, 2023
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Savatt JM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.
Li M et al.
Journal of Translational Medicine, 2021
Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.
Micheu MM et al.
Diagnostics (basel, Switzerland), 2020
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E et al.
Plos One, 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
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
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
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N et al.
Circulation. Cardiovascular Genetics, 2012
[Clinical and genetic aspects of hypertrophic and dilated cardiomyopathy].
Meder B et al.
Der Internist, 2012
Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.
Duboscq-Bidot L et al.
European Heart Journal, 2009