Carmen C. Leitch
University of Maryland, Baltimore(US)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Hedgehog Signaling Pathway Studies, Pancreatic function and diabetes, Renal and related cancers
Most-Cited Works
- → A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2(2005)1,761 cited
- → Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene(2004)763 cited
- → Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome(2003)687 cited
- → Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates(2005)549 cited
- → Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome(2008)395 cited
- → The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression(2004)394 cited
- → Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response(2007)391 cited
- → Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse(2004)365 cited
- → BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus(2006)285 cited
- → Dissection of epistasis in oligogenic Bardet–Biedl syndrome(2005)277 cited