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

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects …

Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly
syndrome caused by mutations in genes encoding proteins that are structural or functional …

The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …

Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder
characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …

Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …

Centrosome and spindle pole-associated protein (CSPP1) is a centrosome and microtubule-
binding protein that plays a role in cell cycle-dependent cytoskeleton organization and cilia …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …