José L. Badano
Institut Pasteur de Montevideo(UY)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Hedgehog Signaling Pathway Studies, Renal and related cancers, Microtubule and mitosis dynamics
Most-Cited Works
- → The Ciliopathies: An Emerging Class of Human Genetic Disorders(2006)1,147 cited
- → Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome(2003)687 cited
- → Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder(2001)654 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
- → Beyond Mendel: an evolving view of human genetic disease transmission(2002)367 cited
- → Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse(2004)365 cited
- → Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport(2004)348 cited
- → Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome(2004)333 cited