Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease.
HCM is a highly complex and heterogeneous disease regarding not only the number of …

Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic
architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked …

Purpose Dilated cardiomyopathy is characterized by substantial locus, allelic, and clinical
heterogeneity that necessitates testing of many genes across clinically overlapping …

Purpose: Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in
genes encoding sarcomere proteins. We report genetic testing results for HCM in 2,912 …

Background The frequency of a variant in the general population is a key criterion used in
the clinical interpretation of sequence variants. With certain exceptions, such as founder …

Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and
their family members. Recent advances in low‐cost, high‐throughput DNA sequencing and …

Next‐generation sequencing methods have revolutionized the speed of generating variation
information. Sequence data have a plethora of applications and will increasingly be used for …

BACKGROUND: Familial involvement is common in dilated cardiomyopathy (DCM) and> 40
genes have been implicated in causing disease. However, the role of genetic testing in …

One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …

Background: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited
disorder of muscle calcium metabolism, triggered by anesthetics and depolarizing muscle …