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Items: 1 to 50 of 154

1.

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

Cox AJ, Grady F, Velez G, Mahajan VB, Ferguson PJ, Kitchen A, Darbro BW, Bassuk AG.

Genet Res (Camb). 2019 Jun 13;101:e8. doi: 10.1017/S0016672319000065.

PMID:
31190668
2.

Bilateral Endophthalmitis after Immediately Sequential Bilateral Cataract Surgery.

Callaway NF, Ji MH, Mahajan VB, Moshfeghi DM.

Ophthalmol Retina. 2019 Apr 11. pii: S2468-6530(19)30121-6. doi: 10.1016/j.oret.2019.04.007. [Epub ahead of print] No abstract available.

PMID:
31153851
3.

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans.

Abe K, Cox A, Takamatsu N, Velez G, Laxer RM, Tse SML, Mahajan VB, Bassuk AG, Fuchs H, Ferguson PJ, Hrabe de Angelis M.

Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):11872-11877. doi: 10.1073/pnas.1819825116. Epub 2019 May 28.

4.

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.

Velez G, Yang J, Li AS, Tsang SH, Bassuk AG, Mahajan VB.

Sci Rep. 2019 May 20;9(1):7608. doi: 10.1038/s41598-019-44031-7.

5.

Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia.

Wert KJ, Bakall B, Bassuk AG, Tsang SH, Mahajan VB.

Ophthalmic Surg Lasers Imaging Retina. 2019 May 1;50(5):e158-e162. doi: 10.3928/23258160-20190503-15.

PMID:
31100169
6.

Silicone oil-induced ocular hypertension and glaucomatous neurodegeneration in mouse.

Zhang J, Li L, Huang H, Fang F, Webber HC, Zhuang P, Liu L, Dalal R, Tang PH, Mahajan VB, Sun Y, Li S, Zhang M, Goldberg JL, Hu Y.

Elife. 2019 May 15;8. pii: e45881. doi: 10.7554/eLife.45881.

7.

Therapeutic Window for Phosphodiesterase 6-Related Retinitis Pigmentosa.

Wang NK, Mahajan VB, Tsang SH.

JAMA Ophthalmol. 2019 Apr 18. doi: 10.1001/jamaophthalmol.2018.6381. [Epub ahead of print] No abstract available.

PMID:
30998807
8.

Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.

O'Keefe G, Hanif AM, Mahajan VB, Jain N.

Ocul Immunol Inflamm. 2019 Apr 15:1-3. doi: 10.1080/09273948.2019.1582783. [Epub ahead of print]

PMID:
30986125
9.

Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation.

Sancho-Pelluz J, Cui X, Lee W, Tsai YT, Wu WH, Justus S, Washington I, Hsu CW, Park KS, Koch S, Velez G, Bassuk AG, Mahajan VB, Lin CS, Tsang SH.

Cell Mol Life Sci. 2019 Apr 11. doi: 10.1007/s00018-019-03090-9. [Epub ahead of print]

PMID:
30976840
10.

Traumatic chorioretinitis sclopetaria: Risk factors, management, and prognosis.

Ludwig CA, Shields RA, Do DV, Moshfeghi DM, Mahajan VB.

Am J Ophthalmol Case Rep. 2019 Feb 16;14:39-46. doi: 10.1016/j.ajoc.2019.02.004. eCollection 2019 Jun.

11.

Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.

Tang PH, Jauregui R, Tsang SH, Bassuk AG, Mahajan VB.

Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):e44-e48. doi: 10.3928/23258160-20190129-18.

PMID:
30768229
12.

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.

Tang PH, Velez G, Tsang SH, Bassuk AG, Mahajan VB.

Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):282-293. doi: 10.1167/iovs.18-25624.

PMID:
30657523
13.

Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa.

Takahashi VKL, Takiuti JT, Carvalho-Jr JRL, Xu CL, Duong JK, Mahajan VB, Tsang SH.

Graefes Arch Clin Exp Ophthalmol. 2019 Apr;257(4):725-731. doi: 10.1007/s00417-018-04234-6. Epub 2019 Jan 11.

PMID:
30635721
14.

Viral Delivery Systems for CRISPR.

Xu CL, Ruan MZC, Mahajan VB, Tsang SH.

Viruses. 2019 Jan 4;11(1). pii: E28. doi: 10.3390/v11010028. Review.

15.

In Vivo Expression of Mutant Calpains in the Eye Using Lentivirus.

Wert KJ, Mahajan VB.

Methods Mol Biol. 2019;1915:233-247. doi: 10.1007/978-1-4939-8988-1_18.

PMID:
30617808
16.

Fibrin Glue and Internal Limiting Membrane Abrasion for Optic Disc Pit Maculopathy.

Almeida DRP, Chin EK, Arjmand P, Velez G, Evans LP, Mahajan VB.

Ophthalmic Surg Lasers Imaging Retina. 2018 Dec 1;49(12):e271-e277. doi: 10.3928/23258160-20181203-18.

PMID:
30566713
17.

SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.

Jauregui R, Thomas AL, Liechty B, Velez G, Mahajan VB, Clark L, Tsang SH.

Am J Med Genet A. 2019 Feb;179(2):312-316. doi: 10.1002/ajmg.a.61001. Epub 2018 Dec 18.

PMID:
30561111
18.

Review of Ocular Manifestations of Joubert Syndrome.

Wang SF, Kowal TJ, Ning K, Koo EB, Wu AY, Mahajan VB, Sun Y.

Genes (Basel). 2018 Dec 4;9(12). pii: E605. doi: 10.3390/genes9120605. Review.

19.

ProSave: an application for restoring quantitative data to manipulated subsets of protein lists.

Machlab DA, Velez G, Bassuk AG, Mahajan VB.

Source Code Biol Med. 2018 Nov 12;13:3. doi: 10.1186/s13029-018-0070-0. eCollection 2018.

20.

PROGRESSION OF SCOTOPIC SINGLE-FLASH ELECTRORETINOGRAPHY IN THE STAGES OF CAPN5 VITREORETINOPATHY.

Tang PH, Kinnick TR, Folk JC, Mahajan M, Bassuk AG, Tsang SH, Mahajan VB.

Retin Cases Brief Rep. 2018 Oct 8. doi: 10.1097/ICB.0000000000000828. [Epub ahead of print]

PMID:
30300311
21.

Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease.

Velez G, Tang PH, Cabral T, Cho GY, Machlab DA, Tsang SH, Bassuk AG, Mahajan VB.

Transl Vis Sci Technol. 2018 Sep 26;7(5):12. doi: 10.1167/tvst.7.5.12. eCollection 2018 Sep.

22.

Quantitative progression of retinitis pigmentosa by optical coherence tomography angiography.

Jauregui R, Park KS, Duong JK, Mahajan VB, Tsang SH.

Sci Rep. 2018 Sep 3;8(1):13130. doi: 10.1038/s41598-018-31488-1.

23.

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.

Liu KY, Sengillo JD, Velez G, Jauregui R, Sakai LY, Maumenee IH, Bassuk AG, Mahajan VB, Tsang SH.

Orphanet J Rare Dis. 2018 Aug 15;13(1):138. doi: 10.1186/s13023-018-0885-4.

24.

Rates of Bone Spicule Pigment Appearance in Patients With Retinitis Pigmentosa Sine Pigmento.

Takahashi VKL, Takiuti JT, Jauregui R, Mahajan VB, Tsang SH.

Am J Ophthalmol. 2018 Nov;195:176-180. doi: 10.1016/j.ajo.2018.07.036. Epub 2018 Aug 4.

PMID:
30081015
25.

Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface.

Wert KJ, Velez G, Cross MR, Wagner BA, Teoh-Fitzgerald ML, Buettner GR, McAnany JJ, Olivier A, Tsang SH, Harper MM, Domann FE, Bassuk AG, Mahajan VB.

Free Radic Biol Med. 2018 Aug 20;124:408-419. doi: 10.1016/j.freeradbiomed.2018.06.024. Epub 2018 Jun 22.

26.

Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases.

Xu CL, Cho GY, Sengillo JD, Park KS, Mahajan VB, Tsang SH.

Front Cell Dev Biol. 2018 May 23;6:46. doi: 10.3389/fcell.2018.00046. eCollection 2018. Review.

27.

Gene therapy and genome surgery in the retina.

DiCarlo JE, Mahajan VB, Tsang SH.

J Clin Invest. 2018 Jun 1;128(6):2177-2188. doi: 10.1172/JCI120429. Epub 2018 Jun 1. Review.

28.

Deferoxamine-induced electronegative ERG responses.

Jauregui R, Park KS, Bassuk AG, Mahajan VB, Tsang SH.

Doc Ophthalmol. 2018 Aug;137(1):15-23. doi: 10.1007/s10633-018-9640-3. Epub 2018 May 16.

PMID:
29770904
29.

CRISPR GENOME SURGERY IN THE RETINA IN LIGHT OF OFF-TARGETING.

Cho GY, Schaefer KA, Bassuk AG, Tsang SH, Mahajan VB.

Retina. 2018 Aug;38(8):1443-1455. doi: 10.1097/IAE.0000000000002197. Review.

PMID:
29746416
30.

HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1.

Lin MK, Yang J, Hsu CW, Gore A, Bassuk AG, Brown LM, Colligan R, Sengillo JD, Mahajan VB, Tsang SH.

Aging Cell. 2018 Aug;17(4):e12710. doi: 10.1111/acel.12710. Epub 2018 May 5.

31.

Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice.

Evans LP, Newell EA, Mahajan M, Tsang SH, Ferguson PJ, Mahoney J, Hue CD, Vogel EW 3rd, Morrison B 3rd, Arancio O, Nichols R, Bassuk AG, Mahajan VB.

Ann Clin Transl Neurol. 2018 Feb 26;5(3):240-251. doi: 10.1002/acn3.523. eCollection 2018 Mar.

32.

Caring for Hereditary Childhood Retinal Blindness.

Jauregui R, Cho GY, Takahashi VKL, Takiuti JT, Bassuk AG, Mahajan VB, Tsang SH.

Asia Pac J Ophthalmol (Phila). 2018 May-Jun;7(3):183-191. doi: 10.22608/APO.201851. Epub 2018 Mar 14. Review.

33.

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

Velez G, Bassuk AG, Schaefer KA, Brooks B, Gakhar L, Mahajan M, Kahn P, Tsang SH, Ferguson PJ, Mahajan VB.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002519. doi: 10.1101/mcs.a002519. Print 2018 Jun.

34.

Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.

Velez G, Machlab DA, Tang PH, Sun Y, Tsang SH, Bassuk AG, Mahajan VB.

PLoS One. 2018 Feb 21;13(2):e0193250. doi: 10.1371/journal.pone.0193250. eCollection 2018.

35.

Bevacizumab Injection in Patients with Neovascular Age-Related Macular Degeneration Increases Angiogenic Biomarkers.

Cabral T, Lima LH, Mello LGM, Polido J, Correa ÉP, Oshima A, Duong J, Serracarbassa P, Regatieri CV, Mahajan VB, Belfort R Jr.

Ophthalmol Retina. 2018 Jan;2(1):31-37. doi: 10.1016/j.oret.2017.04.004.

36.

Autologous stem cell therapy for inherited and acquired retinal disease.

Apatoff MBL, Sengillo JD, White EC, Bakhoum MF, Bassuk AG, Mahajan VB, Tsang SH.

Regen Med. 2018 Jan;13(1):89-96. doi: 10.2217/rme-2017-0089. Epub 2018 Jan 23. Review.

37.

Therapeutic drug repositioning using personalized proteomics of liquid biopsies.

Velez G, Bassuk AG, Colgan D, Tsang SH, Mahajan VB.

JCI Insight. 2017 Dec 21;2(24). pii: 97818. doi: 10.1172/jci.insight.97818.

38.

Genome Surgery and Gene Therapy in Retinal Disorders.

Chan L, Mahajan VB, Tsang SH.

Yale J Biol Med. 2017 Dec 19;90(4):523-532. eCollection 2017 Dec. Review.

39.

Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target.

Roybal CN, Velez G, Toral MA, Tsang SH, Bassuk AG, Mahajan VB.

Am J Ophthalmol. 2018 Feb;186:152-163. doi: 10.1016/j.ajo.2017.11.025. Epub 2017 Dec 13.

40.

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa: A Brief Methodology.

Wu WH, Tsai YT, Justus S, Cho GY, Sengillo JD, Xu Y, Cabral T, Lin CS, Bassuk AG, Mahajan VB, Tsang SH.

Methods Mol Biol. 2018;1715:191-205. doi: 10.1007/978-1-4939-7522-8_13.

PMID:
29188514
41.

Gene Therapy Restores Mfrp and Corrects Axial Eye Length.

Velez G, Tsang SH, Tsai YT, Hsu CW, Gore A, Abdelhakim AH, Mahajan M, Silverman RH, Sparrow JR, Bassuk AG, Mahajan VB.

Sci Rep. 2017 Nov 23;7(1):16151. doi: 10.1038/s41598-017-16275-8.

42.

Calpain-5 gene expression in the mouse eye and brain.

Schaefer K, Mahajan M, Gore A, Tsang SH, Bassuk AG, Mahajan VB.

BMC Res Notes. 2017 Nov 21;10(1):602. doi: 10.1186/s13104-017-2927-8.

43.

Dissection of Human Retina and RPE-Choroid for Proteomic Analysis.

Cabral T, Toral MA, Velez G, DiCarlo JE, Gore AM, Mahajan M, Tsang SH, Bassuk AG, Mahajan VB.

J Vis Exp. 2017 Nov 12;(129). doi: 10.3791/56203.

44.

CRISPR-mediated Ophthalmic Genome Surgery.

Cho GY, Abdulla Y, Sengillo JD, Justus S, Schaefer KA, Bassuk AG, Tsang SH, Mahajan VB.

Curr Ophthalmol Rep. 2017 Sep;5(3):199-206. doi: 10.1007/s40135-017-0144-1. Epub 2017 Jun 15.

45.

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Sengillo JD, Cabral T, Schuerch K, Duong J, Lee W, Boudreault K, Xu Y, Justus S, Sparrow JR, Mahajan VB, Tsang SH.

Sci Rep. 2017 Sep 11;7(1):11170. doi: 10.1038/s41598-017-11679-y.

46.

Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging.

Cabral T, Sengillo JD, Duong JK, Justus S, Boudreault K, Schuerch K, Belfort R Jr, Mahajan VB, Sparrow JR, Tsang SH.

Sci Rep. 2017 Sep 4;7(1):10347. doi: 10.1038/s41598-017-10473-0.

47.

Retinal and choroidal angiogenesis: a review of new targets.

Cabral T, Mello LGM, Lima LH, Polido J, Regatieri CV, Belfort R Jr, Mahajan VB.

Int J Retina Vitreous. 2017 Aug 21;3:31. doi: 10.1186/s40942-017-0084-9. eCollection 2017. Review.

48.

Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment.

Velez G, Roybal CN, Binkley E, Bassuk AG, Tsang SH, Mahajan VB.

Am J Ophthalmol Case Rep. 2017 Apr;5:107-110. doi: 10.1016/j.ajoc.2016.12.023. Epub 2017 Jan 3.

49.

Diagnostic and Therapeutic Challenges.

Mishra P, Kanaujia V, Sharma K, Mahajan VB, Chin EK.

Retina. 2018 Jun;38(6):1246-1250. doi: 10.1097/IAE.0000000000001803. No abstract available.

PMID:
28796145
50.

Limbal Trocar-Cannulas for Complex Vitrectomy Surgery.

Mears KA, Mahajan VB.

Retina. 2019 Mar 19. doi: 10.1097/IAE.0000000000001781. [Epub ahead of print] No abstract available.

PMID:
28737532

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