Carmen C. Leitch

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations · Full text

Dentistry, Developmental Biology, Genetics +14

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

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Alison Ross, Helen May‐Simera, Erica R. Eichers et al. · Nature Genetics · 2005 · 552 citations

Life Sciences, Genetics, Molecular Biology +8

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