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Publications

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Filters: Keyword is Pedigree  [Clear All Filters]
2022
New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family., Vaclavik, Veronika, Tiab Leila, Sun Young Joo, Mahajan Vinit B., Moulin Alexandre, Allaman-Pillet Nathalie, Munier Francis L., and Schorderet Daniel F. , Invest Ophthalmol Vis Sci, 2022 Mar 02, Volume 63, Issue 3, p.23, (2022)
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)
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)
2010
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia., Mahajan, Vinit B., Olney Ann Haskins, Garrett Penny, Chary Ajit, Dragan Ecaterina, Lerner Gary, Murray Jeffrey, and Bassuk Alexander G. , American journal of medical genetics. Part A, 2010 Nov, Volume 152A, Issue 11, p.2875-9, (2010)
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)