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Publications

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Filters: Keyword is Phenotype  [Clear All Filters]
2015
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment., Bassuk, Alexander G., Yeh Steven, Wu Shu, Martin Daniel F., Tsang Stephen H., Gakhar Lokesh, and Mahajan Vinit B. , PLoS One, 2015, Volume 10, Issue 4, p.e0122352, (2015)
2013
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes., White, Jacqueline K., Gerdin Anna-Karin, Karp Natasha A., Ryder Ed, Buljan Marija, Bussell James N., Salisbury Jennifer, Clare Simon, Ingham Neil J., Podrini Christine, et al. , Cell, 2013 Jul 18, Volume 154, Issue 2, p.452-64, (2013)
2012
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration., Mahajan, Vinit B., Skeie Jessica M., Bassuk Alexander G., Fingert John H., Braun Terry A., Daggett Heather T., Folk James C., Sheffield Val C., and Stone Edwin M. , PLoS Genet, 2012, Volume 8, Issue 10, p.e1003001, (2012)
2011
Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration., Quellec, Gwénolé, Russell Stephen R., Seddon Johanna M., Reynolds Robyn, Scheetz Todd, Mahajan Vinit B., Stone Edwin M., and Abràmoff Michael D. , Invest Ophthalmol Vis Sci, 2011 Nov 25, Volume 52, Issue 12, p.9195-206, (2011)
Mouse eye enucleation for remote high-throughput phenotyping., Mahajan, Vinit B., Skeie Jessica M., Assefnia Amir H., Mahajan Maryann, and Tsang Stephen H. , Journal of visualized experiments : JoVE, 2011, Issue 57, (2011)
Mutations in prickle orthologs cause seizures in flies, mice, and humans., Tao, Hirotaka, J Manak Robert, Sowers Levi, Mei Xue, Kiyonari Hiroshi, Abe Takaya, Dahdaleh Nader S., Yang Tian, Wu Shu, Chen Shan, et al. , American journal of human genetics, 2011 Feb 11, Volume 88, Issue 2, p.138-49, (2011)
2009
A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization., Mahajan, Vinit B., Russell Stephen R., and Stone Edwin M. , Archives of ophthalmology, 2009 Nov, Volume 127, Issue 11, p.1449-57, (2009)