Publications

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2020

Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.   |   Yuchen Lin, Christine L. Xu, Gabriel Velez, Jing Yang, Akemi J. Tanaka, Mark P. Breazzano, Vinit B. Mahajan, Janet R. Sparrow, and Stephen H. Tsang   |   Details
Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.   |   J.Kyun Oh; J.Ronaldo Li de Carvalho; Y. Nuzbrokh; J. Ryu; T. Chemudupati; V.B. Mahajan; J.R. Sparrow; S.H. Tsang   |   Details
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.   |   K.J. Wert; G. Velez; V.L. Kanchustambham; V. Shankar; L.P. Evans; J.D. Sengillo; R.N. Zare; A.G. Bassuk; S.H. Tsang; V.B. Mahajan   |   Details
Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.   |   G. Velez; V.B. Mahajan   |   Details
Reply to Comment on: Sex Differences in the Repair of Retinal Detachments in the United States.   |   N.F. Callaway; D. Vail; A. Al-Moujahed; C. Ludwig; M.H. Ji; V.B. Mahajan; S. Pershing; D.M. Moshfeghi   |   Details

2019

In Vivo Expression of Mutant Calpains in the Eye Using Lentivirus.   |   K.J. Wert; V.B. Mahajan   |   Details
CRISPR Base Editing in Induced Pluripotent Stem Cells.   |   Y.J. Chang; C.L. Xu; X. Cui; A.G. Bassuk; V.B. Mahajan; Y.T. Tsai; S.H. Tsang   |   Details
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.   |   A.J. Cox; F. Grady; G. Velez; V.B. Mahajan; P.J. Ferguson; A. Kitchen; B.W. Darbro; A.G. Bassuk   |   Details
Bilateral Endophthalmitis after Immediately Sequential Bilateral Cataract Surgery.   |   N.F. Callaway; M.H. Ji; V.B. Mahajan; D.M. Moshfeghi   |   Details
Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans.   |   K. Abe; A. Cox; N. Takamatsu; G. Velez; R.M. Laxer; S.M.L. Tse; V.B. Mahajan; A.G. Bassuk; H. Fuchs; P.J. Ferguson; M.Hrabe de Angelis   |   Details
Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.   |   G. Velez; J. Yang; A.S. Li; S.H. Tsang; A.G. Bassuk; V.B. Mahajan   |   Details
Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia.   |   K.J. Wert; B. Bakall; A.G. Bassuk; S.H. Tsang; V.B. Mahajan   |   Details
Silicone oil-induced ocular hypertension and glaucomatous neurodegeneration in mouse.   |   J. Zhang; L. Li; H. Huang; F. Fang; H.C. Webber; P. Zhuang; L. Liu; R. Dalal; P.H. Tang; V.B. Mahajan; Y. Sun; S. Li; M. Zhang; J.L. Goldberg; Y. Hu   |   Details
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.   |   K.J. Wert; S.F. Koch; G. Velez; C.W. Hsu; M. Mahajan; A.G. Bassuk; S.H. Tsang; V.B. Mahajan   |   Details
Opposing T cell responses in experimental autoimmune encephalomyelitis.   |   N. Saligrama; F. Zhao; M.J. Sikora; W.S. Serratelli; R.A. Fernandes; D.M. Louis; W. Yao; X. Ji; J. Idoyaga; V.B. Mahajan; L.M. Steinmetz; Y.H. Chien; S.L. Hauser; J.R. Oksenberg; C. Garcia; M.M. Davis   |   Details
Compound heterozygous novel frameshift variants in the gene result in Leber congenital amaurosis.   |   S.D. Ragi; J.Ronaldo Li de Carvalho; A.J. Tanaka; K.Sophia Park; V.B. Mahajan; I.H. Maumenee; S.H. Tsang   |   Details
A Reversible Silicon Oil-Induced Ocular Hypertension Model in Mice.   |   J. Zhang; F. Fang; L. Li; H. Huang; H.C. Webber; Y. Sun; V.B. Mahajan; Y. Hu   |   Details
Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.   |   L. Zhang; X. Cui; Y. Han; K.Sophia Park; X. Gao; X. Zhang; Z. Yuan; Y. Hu; C.W. Hsu; X. Li; A.G. Bassuk; V.B. Mahajan; N.K. Wang; S.H. Tsang   |   Details
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.   |     |   Details
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.   |     |   Details

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