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Publications

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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)
Personalized proteomics in proliferative vitreoretinopathy implicate hematopoietic cell recruitment and mTOR as a therapeutic target, C Roybal, Nathaniel, Velez Gabriel, Toral Marcus A., Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , American journal of ophthalmology, (2017)
Proteomic analysis of elevated intraocular pressure with retinal detachment, Velez, Gabriel, C Roybal Nathaniel, Binkley Elaine, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , American journal of ophthalmology case reports, Volume 5, p.107–110, (2017)
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, 2017, Volume 12, Issue 3, p.e0169687, (2017)
Retinal and choroidal angiogenesis: a review of new targets, Cabral, Thiago, Mello Luiz Guilherme, Lima Luiz H., Polido Júlia, Regatieri Caio V., Belfort Rubens, and Mahajan Vinit B. , International journal of retina and vitreous, Volume 3, Number 1, p.31, (2017)
Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging, Cabral, Thiago, Sengillo Jesse D., Duong Jimmy K., Justus Sally, Boudreault Katherine, Schuerch Kaspar, Belfort Rubens, Mahajan Vinit B., Sparrow Janet R., and Tsang Stephen H. , Scientific reports, Volume 7, Number 1, p.10347, (2017)
Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia, Toral, Marcus A., Velez Gabriel, Boudreault Katherine, Schaefer Kellie A., Xu Yu, Saffra Norman, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Molecular genetics & genomic medicine, Volume 5, p.202–209, (2017)
Therapeutic drug repositioning using personalized proteomics of liquid biopsies, Velez, Gabriel, Bassuk Alexander G., Colgan Diana, Tsang Stephen H., and Mahajan Vinit B. , JCI insight, Volume 2, (2017)
Unexpected mutations after CRISPR-Cas9 editing in vivo, Schaefer, Kellie A., Wu Wen-Hsuan, Colgan Diana F., Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Nature methods, Volume 14, Number 6, p.547–548, (2017)
2016
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate., Darbro, Benjamin W., Singh Rohini, M Zimmerman Bridget, Mahajan Vinit B., and Bassuk Alexander G. , PLoS One, 2016, Volume 11, Issue 3, p.e0149041, (2016)

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