Primary cilia are specialized sensory organelles that protrude from the apical surface of most
cell types. Over the past two decades, they have been found to play important roles in tissue …

Long-read DNA sequencing technologies have been rapidly evolving in recent years, and
their ability to assess large and complex regions of the genome makes them ideal for clinical …

Australian Genomics is a national collaborative partnership of more than 100 organizations
piloting a whole-of-system approach to integrating genomics into healthcare, based on …

Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more
than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated …

Genome-wide association studies (GWASs) of medication use may contribute to
understanding of disease etiology, could generate new leads relevant for drug discovery …

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

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

Background Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to
gather data on treatment and long-term outcome. Methods We contacted paediatric and …

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes
contributing to specific phenotypes and single gene defects having multiple clinical …

Background There are an established and growing number of Mendelian genetic causes for
chronic kidney disease (CKD) in adults, though estimates of prevalence have been …