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2020
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results., Cho, Ahra, de Carvalho Jose Ronaldo Li, Tanaka Akemi J., Jauregui Ruben, Levi Sarah R., Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Orphanet J Rare Dis, 2020 Jan 30, Volume 15, Issue 1, p.32, (2020)
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration., Wert, Katherine J., Velez Gabriel, Kanchustambham Vijaya L., Shankar Vishnu, Evans Lucy P., Sengillo Jesse D., Zare Richard N., Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , EBioMedicine, 2020 Feb 03, Volume 52, p.102636, (2020)
Modulation of Post-Traumatic Immune Response Using the IL-1 Receptor Antagonist Anakinra for Improved Visual Outcomes., Evans, Lucy P., Woll Addison W., Wu Shu, Todd Brittany P., Hehr Nicole, Hedberg-Buenz Adam, Anderson Michael G., Newell Elizabeth A., Ferguson Polly J., Mahajan Vinit B., et al. , J Neurotrauma, 2020 Mar 16, (2020)
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa., Y., Lin, C.L. Xu, G. Velez, J. Yang, A.J. Tanaka, M.P. Breazzano, V.B. Mahajan, J.R. Sparrow, and S.H. Tsang , Doc Ophthalmol. 2020 Feb;140(1):67-75. doi: 10.1007/s10633-019-09719-1. Epub 2019 Sep 19., (2020)
Phenotypic variance in Calpain-5 retinal degeneration., Tang, Peter H., Chemudupati Teja, Wert Katherine J., Folk James C., Mahajan Maryann, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Am J Ophthalmol Case Rep, 2020 Jun, Volume 18, p.100627, (2020)
Proteomic analysis of intermediate uveitis suggests myeloid cell recruitment and implicates IL-23 as a therapeutic target., Sepah, Yasir J., Velez Gabriel, Tang Peter H., Yang Jing, Chemudupati Teja, Li Angela S., Nguyen Quan D., Bassuk Alexander G., and Mahajan Vinit B. , Am J Ophthalmol Case Rep, 2020 Jun, Volume 18, p.100646, (2020)
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants., Velez, Gabriel, Sun Young Joo, Khan Saif, Yang Jing, Herrmann Jonathan, Chemudupati Teja, MacLaren Robert E., Gakhar Lokesh, Wakatsuki Soichi, Bassuk Alexander G., et al. , Cell Rep, 2020 Jan 21, Volume 30, Issue 3, p.881-892.e5, (2020)
2019
Bilateral Endophthalmitis after Immediately Sequential Bilateral Cataract Surgery., Callaway, Natalia F., Ji Marco H., Mahajan Vinit B., and Moshfeghi Darius M. , Ophthalmol Retina, 2019 Jul, Volume 3, Issue 7, p.618-619, (2019)
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials., Wert, Katherine J., Koch Susanne F., Velez Gabriel, Hsu Chun-Wei, Mahajan Maryann, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Hum Mutat, 2019 Aug 12, (2019)
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa., Takahashi, Vitor K. L., Xu Christine L., Takiuti Julia T., Apatoff Mary Ben L., Duong Jimmy K., Mahajan Vinit B., and Tsang Stephen H. , Orphanet J Rare Dis, 2019 08 01, Volume 14, Issue 1, p.187, (2019)
Compound heterozygous novel frameshift variants in the gene result in Leber congenital amaurosis., Ragi, Sara D., de Carvalho Jose Ronaldo Li, Tanaka Akemi J., Park Karen Sophia, Mahajan Vinit B., Maumenee Irene H., and Tsang Stephen H. , Cold Spring Harb Mol Case Stud, 2019 Dec, Volume 5, Issue 6, (2019)
CRISPR Base Editing in Induced Pluripotent Stem Cells., Chang, Ya-Ju, Xu Christine L., Cui Xuan, Bassuk Alexander G., Mahajan Vinit B., Tsai Yi-Ting, and Tsang Stephen H. , Methods Mol Biol, 2019 Jun 28, (2019)
Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa., Takahashi, Vitor K. L., Takiuti Julia T., Carvalho-Jr Jose R. L., Xu Christine L., Duong Jimmy K., Mahajan Vinit B., and Tsang Stephen H. , Graefes Arch Clin Exp Ophthalmol, 2019 Apr, Volume 257, Issue 4, p.725-731, (2019)
Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans., Abe, Koichiro, Cox Allison, Takamatsu Nobuhiko, Velez Gabriel, Laxer Ronald M., Tse Shirley M. L., Mahajan Vinit B., Bassuk Alexander G., Fuchs Helmut, Ferguson Polly J., et al. , Proc Natl Acad Sci U S A, 2019 Jun 11, Volume 116, Issue 24, p.11872-11877, (2019)
Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration., Zhang, Lijuan, Cui Xuan, Han Yangjun, Park Karen Sophia, Gao Xiaohong, Zhang Ximei, Yuan Zhigang, Hu Yong, Hsu Chun-Wei, Li Xiaorong, et al. , Hum Mol Genet, 2019 10 15, Volume 28, Issue 20, p.3475-3485, (2019)
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth., Cox, Allison J., Grady Fillan, Velez Gabriel, Mahajan Vinit B., Ferguson Polly J., Kitchen Andrew, Darbro Benjamin W., and Bassuk Alexander G. , Genet Res (Camb), 2019 Jun 13, Volume 101, p.e8, (2019)
In Vivo Expression of Mutant Calpains in the Eye Using Lentivirus., Wert, Katherine J., and Mahajan Vinit B. , Methods Mol Biol, 2019, Volume 1915, p.233-247, (2019)
Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia., Wert, Katherine J., Bakall Benjamin, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Ophthalmic Surg Lasers Imaging Retina, 2019 May 01, Volume 50, Issue 5, p.e158-e162, (2019)
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation., J, Sancho-Pelluz, X Lee W. Cui, YT Tsai, WH Wu, S Justus, I Washington, CW Hsu, KS Park, S Koch, G Velez, et al. , Cell Mol Life Sci. 2019 Sep;76(18):3657-3665. doi: 10.1007/s00018-019-03090-9. Epub 2019 Apr 11., (2019)
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. , JK, Oh, JR, Jr Lima de Carvalh, YJ Ragi S. Sun, J, SR Levi Yang, J Ryu, AG Bassuk, VB Mahajan, and SH Tsang , Orphanet J Rare Dis. 2019 Dec 19;14(1):295. doi: 10.1186/s13023-019-1275-2., (2019)
Opposing T cell responses in experimental autoimmune encephalomyelitis., Saligrama, Naresha, Zhao Fan, Sikora Michael J., Serratelli William S., Fernandes Ricardo A., Louis David M., Yao Winnie, Ji Xuhuai, Idoyaga Juliana, Mahajan Vinit B., et al. , Nature, 2019 Aug 07, (2019)
Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss., Tang, Peter H., Jauregui Ruben, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Ophthalmic Surg Lasers Imaging Retina, 2019 02 01, Volume 50, Issue 2, p.e44-e48, (2019)
Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy., Velez, Gabriel, Yang Jing, Li Angela S., Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Sci Rep, 2019 May 20, Volume 9, Issue 1, p.7608, (2019)
A Reversible Silicon Oil-Induced Ocular Hypertension Model in Mice., Zhang, Jie, Fang Fang, Li Liang, Huang Haoliang, Webber Hannah C., Sun Yang, Mahajan Vinit B., and Hu Yang , J Vis Exp, 2019 Nov 15, Issue 153, (2019)
Silicone oil-induced ocular hypertension and glaucomatous neurodegeneration in mouse., Zhang, Jie, Li Liang, Huang Haoliang, Fang Fang, Webber Hannah C., Zhuang Pei, Liu Liang, Dalal Roopa, Tang Peter H., Mahajan Vinit B., et al. , Elife, 2019 May 15, Volume 8, (2019)

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