Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by
defects in genes encoding for proteins that localize to the primary cilium/basal body …

Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

Obesity is a common complex trait that elevates the risk for various diseases, including type
2 diabetes and cardiovascular disease. A combination of environmental and genetic factors …

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 …

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 …

Obesity rates have escalated to the point of a global pandemic with varying prevalence
across ethnic groups. These differences are partially explained by lifestyle factors in addition …

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

Studies of human genetic disorders have traditionally followed a reductionist paradigm.
Traits are defined as Mendelian or complex based on family pedigree and population data …

Bardet-Biedl syndrome (BBS) is a currently incurable ciliopathy caused by the failure to
correctly establish or maintain cilia-dependent signaling pathways. Eight proteins …

Bardet‐Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by
retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic …