Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …

During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …

Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in
patients with suspected monogenic kidney disease. Methods We performed clinically …

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

Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

Purpose The success of genomic medicine hinges on the implementation of genetic
knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients …

Introduction Genomic testing is becoming widely available as a diagnostic tool, although
widespread implementation is not yet established in nephrology. Methods An anonymous …

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

Methods In this prospective cohort study, we undertook genetic testing in adults with
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …

Chronic kidney disease (CKD) is a major healthcare issue worldwide. However, the
prevalence of pediatric CKD has never been systematically assessed and consistent …