Population-based prospective studies, such as UK Biobank, are valuable for generating and
testing hypotheses about the potential causes of human disease. We describe how UK …

Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …

Background Inherited cardiomyopathies present with broad variation of phenotype. Data are
limited regarding genetic screening strategies and outcomes associated with predicted …

Understanding the penetrance of pathogenic variants identified as secondary findings (SFs)
is of paramount importance with the growing availability of genetic testing. We estimated …

Aims Prediction and early detection of heart failure (HF) is crucial to mitigate its impact on
quality of life, survival, and healthcare expenditure. Here, we explored the predictive value of …

Dilated cardiomyopathy (DCM) is a common cause of heart failure and is the primary
indication for heart transplantation. A genetic etiology can be found in 20-35% of patients …

The voltage-gated sodium channel NaV1. 8 is prominently expressed in the soma and
axons of small-caliber sensory neurons, and pathogenic variants of the corresponding gene …

Background Disease penetrance in genotype-positive (G+) relatives of families with dilated
cardiomyopathy (DCM) and the characteristics associated with DCM onset in these …

Cardiac genetic counseling is the process of helping individuals with a personal or family
history of an inherited heart condition understand the benefits and limitations of genetic …

Dilated cardiomyopathy (DCM) is a primary heart muscle disorder that has been associated
with both monogenic and polygenic architectures, with the majority of cases having no …