Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

The identification of genes causing inherited kidney diseases yielded crucial insights in the
molecular basis of disease and improved our understanding of physiological processes that …

Background Exome sequencing is emerging as a first-line diagnostic method in some
clinical disciplines, but its usefulness has yet to be examined for most constitutional …

The Kidney Disease: Improving Global Outcomes (KDIGO) initiative organized a
Controversies Conference on glomerular diseases in November 2017. The conference …

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 …

Background: Exome sequencing is increasingly being used for clinical diagnostics, with an
impetus to expand reporting of incidental findings across a wide range of disorders. Analysis …

Background Individuals with rare kidney diseases account for 5–10% of people with chronic
kidney disease, but constitute more than 25% of patients receiving kidney replacement …

Advances in next-generation sequencing (NGS) techniques, including whole exome
sequencing, have facilitated cost-effective sequencing of large regions of the genome …

Results Using this workflow, we attempted to recontact a diverse pilot cohort of 104
nephrology research participants with actionable genetic findings, encompassing 34 …

Background Rare diseases may be life-threatening or chronically debilitating conditions.
Patient care needs are often complex and challenging to coordinate and deliver effectively …