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

Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

African Americans have a significantly higher risk of develo** chronic kidney disease,
especially focal segmental glomerulosclerosis-, than European Americans. Two coding …

Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have
a family history. Genetic testing is supportive in identifying and possibly confirming …

Rationale & Objective Alport syndrome is a common genetic kidney disease accounting for
approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by …

Energy metabolism failure in proximal tubule cells (PTCs) is a hallmark of chronic kidney
injury. We combined transcriptomic, metabolomic, and lipidomic approaches in experimental …

Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …

BACKGROUND It is unknown whether the risk of kidney disease progression and failure
differs between patients with and without genetic kidney disorders. METHODS Three cohorts …

Background: Spontaneous coronary artery dissection (SCAD) occurs when an epicardial
coronary artery is narrowed or occluded by an intramural hematoma. SCAD mainly affects …

Importance Sequencing studies have identified causal genetic variants for distinct subtypes
of heart failure (HF) such as hypertrophic or dilated cardiomyopathy. However, the role of …