Philip L. Beales

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 · 962 citations · Full text

Improved Diagnosis, Diagnosis, Pathology +16

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 · 763 citations · Full text

Basal Body Proteome, Genetic Disorder, Comparative Genomics +9

Bardet–Biedl syndrome

Elizabeth Forsythe, Philip L. Beales · European Journal of Human Genetics · 2012 · 725 citations · Full text

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