Rationale & Objective The identification of pathogenic variants in genes associated with
chronic kidney disease can provide patients and nephrologists with actionable information …

Advances in biomedical research allow for the capture of an unprecedented level of genetic,
molecular, and clinical information from large patient cohorts, where the quest for precision …

Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is
responsible for only a small percentage of cases of nephrotic syndrome, but information from …

Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

Genome-wide association studies (GWAS) have identified hundreds of loci associated with
kidney-related traits such as glomerular filtration rate, albuminuria, hypertension, electrolyte …

Background Whole-exome sequencing (WES) increases the diagnostic rate of genetic
kidney disorders, but accessibility, interpretation of results, and costs limit use in daily …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

Idiopathic nephrotic syndrome (INS) describes a group of pathologies of the renal
glomerulus that result in the classic triad of heavy proteinuria, oedema and …

Chronic kidney disease (CKD) has a heritable component and is an important global public
health problem because of its high prevalence and morbidity. We conducted genome-wide …

Chronic kidney disease (CKD) is common, affecting about 10% of the general population,
and causing significant morbidity and mortality. Apart from the risk conferred by traditional …