Richard A. Lewis

Mutation of the Stargardt Disease Gene ( <i>ABCR</i> ) in Age-Related Macular Degeneration

Rando Allikmets, Noah F. Shroyer, Nanda Singh et al. · Science · 1997 · 878 citations

Medicine, Genetics, Molecular Genetics +17

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

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering et al. · The American Journal of Human Genetics · 2007 · 428 citations

Medicine, Neurobiology, Neuroscience +7

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 397 citations

Life Sciences, Genetics, Molecular Genetics +14