The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …

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 …

Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

Basement membranes (BMs) are ubiquitous extracellular matrices whose composition
remains elusive, limiting our understanding of BM regulation and function. By developing a …

Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …

Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with> 100
purported disease genes tested in clinical laboratories. However, many genes were …

Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of
1,000,000 live births and has been associated with mutations in components of the …

Objectives The majority of people with suspected genetic dystonia remain undiagnosed after
maximal investigation, implying that a number of causative genes have not yet been …

Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders
that result in clinically apparent immune dysfunction. Although PIDs are classically …