This document describes the contribution of clinical criteria to the interpretation of genetic
variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist …

Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …

According to a rough estimate, one in fifteen people worldwide is affected by a rare disease.
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …

Mitochondria play essential roles in numerous metabolic pathways including the synthesis
of adenosine triphosphate through oxidative phosphorylation. Clinically, mitochondrial …

Primary immunodeficiency disorders (PIDs) are inborn errors of immunity (IEI) that cause
immune system impairment. To date, more than 400 single-gene IEI have been well defined …

There have been two major eras in the history of gene discovery. The first was the era of
linkage analysis, with approximately 1,300 disease-related genes identified by positional …

A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with
complex phenotypes. We investigated a three-generation family with cardiomyopathy and …

Neuromuscular disorders (NMDs) comprise a heterogeneous group of disorders that affect
about one in every thousand individuals worldwide. The vast majority of NMDs has a genetic …

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease
associated with morbidity and mortality at any age. As studies in recent decades have …

Genetic testing in hypertrophic cardiomyopathy (HCM) is a valuable tool to manage patients
and their families. Genetic testing can help inform diagnosis and differentiate HCM from …