Skip to content Skip to navigation

Publications

Export 156 results:
2018
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1, Lin, Michael K., Yang Jin, Hsu Chun Wei, Gore Anuradha, Bassuk Alexander G., Brown Lewis M., Colligan Ryan, Sengillo Jess D., Mahajan Vinit B., and Tsang Stephen H. , Aging Cell, 05/2018, (2018)
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity, Liu, Katherine Y., Sengillo Jesse D., Velez Gabriel, Jauregui Ruben, Sakai Lynn Y., Maumenee Irene H., Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Orphanet journal of rare diseases, Volume 13, p.138, (2018)
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay, Velez, Gabriel, Bassuk Alexander G., Schaefer Kellie A., Brooks Brian, Gakhar Lokesh, Mahajan Maryann, Kahn Philip, Tsang Stephen H., Ferguson Polly J., and Mahajan Vinit B. , Molecular Case Studies, p.mcs–a002519, (2018) PDF icon PDF Download (16.06 MB)
Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease., Velez, Gabriel, Tang Peter H., Cabral Thiago, Cho Galaxy Y., Machlab Daniel A., Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Transl Vis Sci Technol, 2018 Sep, Volume 7, Issue 5, p.12, (2018)
PROGRESSION OF SCOTOPIC SINGLE-FLASH ELECTRORETINOGRAPHY IN THE STAGES OF CAPN5 VITREORETINOPATHY., Tang, Peter H., Kinnick Tyson R., Folk James C., Mahajan Maryann, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Retin Cases Brief Rep, 2018 Oct 08, (2018)
ProSave: an application for restoring quantitative data to manipulated subsets of protein lists., Machlab, Daniel A., Velez Gabriel, Bassuk Alexander G., and Mahajan Vinit B. , Source Code Biol Med, 2018, Volume 13, p.3, (2018)
Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic-and oxidative stress-related diseases, Velez, Gabriel, Machlab Daniel A., Tang Peter H., Sun Yang, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , PloS one, Volume 13, p.e0193250, (2018) PDF icon PDF Download (4.78 MB)
Quantitative progression of retinitis pigmentosa by optical coherence tomography angiography, Jauregui, Ruben, Park Karen Sophia, Duong Jimmy K., Mahajan Vinit B., and Tsang Stephen H. , Scientific reports, Volume 8, p.13130, (2018)
Rates of Bone Spicule Pigment Appearance in patients with Retinitis Pigmentosa Sine Pigmento., Takahashi, Vitor K. L., Takiuti Julia T., Jauregui Ruben, Mahajan Vinit B., and Tsang Stephen H. , Am J Ophthalmol, 2018 Aug 03, (2018)
Review of Ocular Manifestations of Joubert Syndrome., Wang, Stephanie F., Kowal Tia J., Ning Ke, Koo Euna B., Wu Albert Y., Mahajan Vinit B., and Sun Yang , Genes (Basel), 2018 Dec 04, Volume 9, Issue 12, (2018)
SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa., Jauregui, Ruben, Thomas Amanda L., Liechty Benjamin, Velez Gabriel, Mahajan Vinit B., Clark Lorraine, and Tsang Stephen H. , Am J Med Genet A, 2018 Dec 18, (2018)
Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases., Xu, Christine L., Cho Galaxy Y., Sengillo Jesse D., Park Karen S., Mahajan Vinit B., and Tsang Stephen H. , Front Cell Dev Biol, 2018, Volume 6, p.46, (2018)
2017
Acanthamoeba Endophthalmitis After Recurrent Keratitis And Nodular Scleritis, Mammo, Zaid, Almeida David R. P., Cunningham Matthew A., Chin Eric K., and Mahajan Vinit B. , Retinal Cases and Brief Reports, Volume 11, p.180–182, (2017)
Calpain-5 gene expression in the mouse eye and brain, Schaefer, Kellie, Mahajan Maryann, Gore Anuradha, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , BMC research notes, Volume 10, Number 1, p.602, (2017)
Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO), Cox, Allison J., Darbro Benjamin W., Laxer Ronald M., Velez Gabriel, Bing Xinyu, Finer Alexis L., Erives Albert, Mahajan Vinit B., Bassuk Alexander G., and Ferguson Polly J. , PloS one, Volume 12, Number 7, p.e0181222, (2017)
CRISPR-Cas Genome Surgery in Ophthalmology, DiCarlo, James E., Sengillo Jesse D., Justus Sally, Cabral Thiago, Tsang Stephen H., and Mahajan Vinit B. , Translational vision science & technology, Volume 6, p.13–13, (2017)
CRISPR-Mediated Ophthalmic Genome Surgery, Cho, Galaxy Y., Abdulla Yazeed, Sengillo Jesse D., Justus Sally, Schaefer Kellie A., Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Current ophthalmology reports, Volume 5, p.199–206, (2017)
Diagnostic and Therapeutic Challenges., Mishra, Priyadarshini, Kanaujia Vikas, Sharma Kumudini, Mahajan Vinit B., and Chin Eric K. , Retina, 2017 Aug 08, (2017)
Dissection of Human Retina and RPE-Choroid for Proteomic Analysis., Cabral, Thiago, Toral Marcus A., Velez Gabriel, DiCarlo James E., Gore Anuradha M., Mahajan M, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Journal of visualized experiments: JoVE, (2017)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial., Russell, Stephen, Bennett Jean, Wellman Jennifer A., Chung Daniel C., Yu Zi-Fan, Tillman Amy, Wittes Janet, Pappas Julie, Elci Okan, McCague Sarah, et al. , Lancet, 2017 Aug 26, Volume 390, Issue 10097, p.849-860, (2017)
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients, Sengillo, Jesse D., Cabral Thiago, Schuerch Kaspar, Duong Jimmy, Lee Winston, Boudreault Katherine, Xu Yu, Justus Sally, Sparrow Janet R., Mahajan Vinit B., et al. , Scientific reports, Volume 7, Number 1, p.11170, (2017)
Gene Therapy Restores Mfrp and Corrects Axial Eye Length, Velez, Gabriel, Tsang Stephen H., Tsai Yi-Ting, Hsu Chun-Wei, Gore Anuradha, Abdelhakim Aliaa H., Mahajan Maryann, Silverman Ronald H., Sparrow Janet R., Bassuk Alexander G., et al. , Scientific reports, Volume 7, p.16151, (2017)

Genome Surgery and Gene Therapy in Retinal Disorders., Chan, Lawrence, Mahajan Vinit B., and Tsang Stephen H. , Yale J Biol Med, 2017 Dec, Volume 90, Issue 4, p.523-532, (2017)
Limbal Trocar-Cannulas for Complex Vitrectomy Surgery., Mears, Katrina A., and Mahajan Vinit B. , Retina, 2017 Jul 21, (2017)
Ocular hypertension after intravitreal dexamethasone (Ozurdex) sustained-release implant, Chin, Eric K., Almeida David R. P., Velez Gabriel, Xu Kunyong, Peraire Maria, Corbella Maria, Elshatory Yasser M., Kwon Young H., Gehrs Karen M., H Boldt Culver, et al. , Retina, Volume 37, p.1345–1351, (2017)

Pages