Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 972 citations · Full text

Medicine, Genetics, Pediatrics +9

Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

Jin Billy Li, Jantje M. Gerdes, Courtney J. Haycraft et al. · Cell · 2004 · 768 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

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 · 690 citations

Life Sciences, Endocrinology, Human Genetics +5

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

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 655 citations

Life Sciences, Genetics, Molecular Genetics +17

Decoding Cilia Function

Tomer Avidor‐Reiss, Andreia M Maer, Edmund J. Koundakjian et al. · Cell · 2004 · 512 citations · Full text