Bethan E. Hoskins

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Stephen J. Ansley, José L. Badano, Oliver E. Blacque et al. · Nature · 2003 · 686 citations

Clinical Disorders, Physiology, Degenerative Disease +9

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 653 citations

Mendelian Disorder, Genetic Disorder, Genetics +14

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 557 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Jun Chul Kim, José L. Badano, Sonja Sibold et al. · Nature Genetics · 2004 · 394 citations · Full text

Microtubule Anchoring, Protein Function, Signal Transduction +11

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Heather Kulaga, Carmen C. Leitch, Erica R. Eichers et al. · Nature Genetics · 2004 · 364 citations · Full text

Signal Transduction, Allergy, Olfactory Cilia Structure +7