Penetrance is the probability that an individual with a pathogenic genetic variant develops a
specific disease. Knowing the penetrance of variants for monogenic disorders is important …

Dilated cardiomyopathy (DCM) is a heart muscle disease that represents an important cause
of morbidity and mortality, yet causal mechanisms remain largely elusive. Here, we perform …

Genome-sequence-based newborn screening (gNBS) has substantial potential to improve
outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major …

Background The alpha-protein kinase 3 (ALPK3) gene (OMIM: 617608) is associated with
autosomal recessive familial hypertrophic cardiomyopathy-27 (CMH27, OMIM: 618052) …

Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes.
Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been …

The heart is the first organ to develop in the mammalian embryo and its architecture is
dependent on the spatial organisation of diverse cell types and morphogenetic …

Although hypertrophic cardiomyopathy (HCM) has traditionally been regarded as an
inherited genetic (ie, Mendelian) disease, carriers of causal pathogenic genetic variants …

The heart employs a specialized ribosome in its muscle cells to translate genetic information
into proteins, a fundamental adaptation with an elusive physiological role. Its significance is …

Background Precision medicine in paediatric cardiac channelopathy and cardiomyopathy
has a rapid advancement over the past years. Compared to conventional gene panel and …