Competitive athletes are often exposed to extreme physiological loading, resulting in over
excessive mechanotransduction during their acute intensive training sessions and …

Objective The objective of the study is to characterize the pathomechanisms underlying
actininopathies. Distal myopathies are a group of rare, inherited muscular disorders …

Approximately 200 critically ill infants and children in New Zealand are in high-dependency
care, many suspected of having genetic conditions, requiring scalable genomic testing. We …

Background Cardiomyopathies are clinically important conditions, with a strong genetic
component. National genomic initiatives such as 100,000 Genome Project (100KGP) …

Innovative and easy-to-implement strategies are needed to improve the pathogenicity
assessment of rare germline missense variants. Somatic cancer driver mutations identified …

In silico variant interpretation pipelines have become an integral part of genetics research
and genome diagnostics. However, challenges remain for automated variant interpretation …

Abstract Purpose Biallelic INPP4A variants have recently been associated with severe
neurodevelopmental disease in single-case reports. Here, we expand and elucidate the …

Context Hyperinsulinemic hypoglycemia (HI) can be the presenting feature of Kabuki
syndrome (KS), which is caused by loss-of-function variants in KMT2D or KDM6A. As these …

The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS
panels, whereas exome sequencing (ES) has occasionally been employed. In this …

Background: An estimated 10–15% of all genetic diseases are attributable to variants in
noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these …