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Article
Open AccessAAV9:PKP2 improves heart function and survival in a Pkp2-deficient mouse model of arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial cardiac disease associated with ventricular arrhythmias and an increased risk of sudden cardiac death. Currently, there are no approved trea...
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Article
Open AccessTargeting HDAC6 to treat heart failure with preserved ejection fraction in mice
Heart failure with preserved ejection fraction (HFpEF) poses therapeutic challenges due to the limited treatment options. Building upon our previous research that demonstrates the efficacy of histone deacetyla...
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Article
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
Enlargement of the aorta is an important risk factor for aortic aneurysm and dissection, a leading cause of morbidity in the developed world. Here we performed automated extraction of ascending aortic diameter...
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Article
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions
Hypertrophic cardiomyopathy (HCM) has historically been diagnosed phenotypically. Through genetic testing, identification of a molecular diagnosis (MolDx) is increasingly common but the impact on pediatric pat...
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Article
Open AccessAssociation between the 4p16 genomic locus and different types of congenital heart disease: results from adult survivors in the UK Biobank
Congenital heart disease is the most common birth defect in newborns and the leading cause of death in infancy, affecting nearly 1% of live births. A locus in chromosome 4p16, adjacent to MSX1 and STX18, has been...
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Article
Open AccessWeakly supervised classification of aortic valve malformations using unlabeled cardiac MRI sequences
Biomedical repositories such as the UK Biobank provide increasing access to prospectively collected cardiac imaging, however these data are unlabeled, which creates barriers to their use in supervised machine ...
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Article
Open AccessMedical implications of technical accuracy in genome sequencing
As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be te...
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Article
Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease
Recent human genetic studies suggest that allelic variants of leukotriene pathway genes influence the risk of clinical and subclinical atherosclerosis. We sequenced the promoter, exonic, and splice site region...
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Protocol
Comparative Genomics
The availability of an increasing number of vertebrate genomes has enabled comparative methods to infer functional sequences based on evolutionary constraint. Although this has proved powerful for gene identif...
