Publications

2019

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

2018

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay   |   G. Velez; A.G. Bassuk; K.A. Schaefer; B. Brooks; L. Gakhar; M. Mahajan; P. Kahn; S.H. Tsang; P.J. Ferguson; V.B. Mahajan   |   Details
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity   |   K.Y. Liu; J.D. Sengillo; G. Velez; R. Jauregui; L.Y. Sakai; I.H. Maumenee; A.G. Bassuk; V.B. Mahajan; S.H. Tsang   |   Details
Extracellular superoxide dismutase 3 (SOD3) regulates oxidative stress at the vitreoretinal interface   |   K.J. Wert; G. Velez; M.R. Cross; B.A. Wagner; M.L. Teoh-Fitzgerald; G.R. Buettner; J. McAnany; A. Olivier; S.H. Tsang; M.M. Harper;   |   Details
Quantitative progression of retinitis pigmentosa by optical coherence tomography angiography   |   R. Jauregui; K.Sophia Park; J.K. Duong; V.B. Mahajan; S.H. Tsang   |   Details
Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease.   |   G. Velez; P.H. Tang; T. Cabral; G.Y. Cho; D.A. Machlab; S.H. Tsang; A.G. Bassuk; V.B. Mahajan   |   Details
Rates of Bone Spicule Pigment Appearance in patients with Retinitis Pigmentosa Sine Pigmento.   |   V.K.L. Takahashi; J.T. Takiuti; R. Jauregui; V.B. Mahajan; S.H. Tsang   |   Details
Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases.   |   C.L. Xu; G.Y. Cho; J.D. Sengillo; K.S. Park; V.B. Mahajan; S.H. Tsang   |   Details
PROGRESSION OF SCOTOPIC SINGLE-FLASH ELECTRORETINOGRAPHY IN THE STAGES OF CAPN5 VITREORETINOPATHY.   |   P.H. Tang; T.R. Kinnick; J.C. Folk; M. Mahajan; A.G. Bassuk; S.H. Tsang; V.B. Mahajan   |   Details
Fibrin Glue and Internal Limiting Membrane Abrasion for Optic Disc Pit Maculopathy.   |   D.R.P. Almeida; E.K. Chin; P. Arjmand; G. Velez; L.P. Evans; V.B. Mahajan   |   Details
SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.   |   R. Jauregui; A.L. Thomas; B. Liechty; G. Velez; V.B. Mahajan; L. Clark; S.H. Tsang   |   Details

Pages