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 …

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

The success of clinical genomics using next generation sequencing (NGS) requires the
accurate and consistent identification of personal genome variants. Assorted variant calling …

The Human Phenotype Ontology (HPO) is widely used in the rare disease community for
differential diagnostics, phenotype-driven analysis of next-generation sequence-variation …

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is
characterized by heterogeneous clinical manifestations including primary features of the …

DNA variants represent an important source of genetic variations among individuals. Next-
generation sequencing (NGS) is the most popular technology for genome-wide variant …

Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1,
ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease …

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by
renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal …

The thrombotic microangiopathies (TMAs) and C3 glomerulopathies (C3Gs) include a
spectrum of rare diseases such as atypical hemolytic uremic syndrome, thrombotic …

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