This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

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

A general principle of biology is the self‐assembly of proteins into functional complexes.
Characterizing their composition is, therefore, required for our understanding of cellular …

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

Congenital heart defects (CHDs) are the most common type of birth defect occurring in% 1%
of live births1 and, if minor cardiac abnormalities such as bicuspid aortic valve are included …

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

Dysfunctional cilia cause pleiotropic human diseases termed ciliopathies. These hereditary
maladies are often caused by defects in cilia assembly, a complex event that is regulated by …

Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically
heterogeneous disorders characterized by defects in the development of the face and oral …

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most
frequent causes of kidney failure in childhood characterized by a broad clinical and genetic …

The human face represents a combined set of highly heritable phenotypes, but knowledge
on its genetic architecture remains limited, despite the relevance for various fields. A series …