The presence of single, non-motile “primary” cilia on the surface of epithelial cells has been
well described since the 1960s. However, for decades these organelles were believed to be …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Mutations affecting ciliary components cause ciliopathies. As described here, we
investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Genome-wide association (GWA) studies have identified numerous, replicable, genetic
associations between common single nucleotide polymorphisms (SNPs) and risk of …

The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely
vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal …