Mitochondria are essential for the viability of eukaryotic cells as they perform crucial
functions in bioenergetics, metabolism and signalling and have been associated with …

Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked
inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem …

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

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic
cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or …

Primary cilia are generally solitary organelles that emanate from the surface of almost all
vertebrate cell types. Until recently, details regarding the function of these structures were …

Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by
extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here …

At least 10% of adults and nearly all children who receive renal-replacement therapy have
an inherited kidney disease. These patients rarely die when their disease progresses and …

Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney
diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only …

Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant
polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1–32 as six …