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 …

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

Obesity represents a major health burden to both developed and developing countries.
Furthermore, the incidence of obesity is increasing in children. Obesity contributes …

Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of
disorders characterized by renal tubular and interstitial abnormalities, leading to slow …

Genomic disorders result from copy‐number variants (CNVs) or submicroscopic
rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse …

Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic
kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young …

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 …

Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …

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

Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and
genetic heterogeneity, almost all of which has been identified through sequencing. Recent …