• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …

Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading
indication for heart transplantation. DCM is often familial, and the most common genetic …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism's …

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …

Background: A better understanding of the factors that contribute to heterogeneous
outcomes and lifetime disease burden in hypertrophic cardiomyopathy (HCM) is critically …

Purpose: The accurate interpretation of variation in Mendelian disease genes has lagged
behind data generation as sequencing has become increasingly accessible. Ongoing large …

Background Patients with dilated cardiomyopathy whose symptoms and cardiac function
have recovered often ask whether their medications can be stopped. The safety of …