My Bibliography

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Olawoye O, Young BP, Nyunt AW, Fafowora OF, Ajani M, Creemer BA, Roos BR, Coleman AL, Gorin MB, Hauser MA, Scheetz TE, Ashaye A, Fingert JH. Prevalence of MYOC mutations in a cohort of juvenile open-angle glaucoma (JOAG) patients from Sub-Saharan Africa. Ophthalmol Glaucoma. 2025 Apr 23;. doi: 10.1016/j.ogla.2025.04.010. [Epub ahead of print] PubMed PMID: 40280414; NIHMSID:NIHMS2077044.

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Boese EA, Alward WLM, Fingert JH. Gonioscopy-Assisted Transluminal Trabeculotomy for Myocilin-Associated Juvenile Open-Angle Glaucoma: A Case Series of 8 Eyes Over 2.2 to 4.1 Years. Ophthalmol Glaucoma. 2025 Apr 4;. doi: 10.1016/j.ogla.2025.03.011. [Epub ahead of print] PubMed PMID: 40188877.

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Hedberg-Buenz A, Boese EA, Nyunt AW, Sears NC, Pouw AE, Wang K, Fingert JH. Increased aqueous humor levels of endothelin-1 in patients with open angle glaucoma. BMC Ophthalmol. 2025 Jan 24;25(1):46. doi: 10.1186/s12886-025-03861-y. PubMed PMID: 39856599; PubMed Central PMCID: PMC11760677.

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Chang-Wolf JM, Kinzy TG, Driessen SJ, Cruz LA, Iyengar SK, Peachey NS, Aung T, Khor CC, Williams SE, Ramsay M, Olawoye O, Ashaye A, Klaver CCW, Hauser MA, Thiadens AAHJ, Cooke Bailey JN, Bonnemaijer PWM. Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent. JAMA Ophthalmol. 2025 Jan 1;143(1):7-14. doi: 10.1001/jamaophthalmol.2024.4784. PubMed PMID: 39541127; PubMed Central PMCID: PMC11565374.

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Song Rong S, Larson A, Wiggs JL. ATXN2 loss of function results in glaucoma-related features supporting a role for Ataxin-2 in primary open-angle glaucoma (POAG) pathogenesis. Vision Res. 2025 Jan;226:108508. doi: 10.1016/j.visres.2024.108508. Epub 2024 Nov 2. PubMed PMID: 39488861.

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Sekimitsu S, Ghazal N, Aziz K, Zhao Y, Singh RK, Fingert JH, Gordon MO, Kass MA, Scheetz T, Segrè AV, Pasquale LR, Wiggs JL, Brandt JD, Zebardast N. Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis of a Randomized Clinical Trial. JAMA Ophthalmol. 2024 Nov 7;142(12):1132-9. doi: 10.1001/jamaophthalmol.2024.4376. [Epub ahead of print] PubMed PMID: 39509108; PubMed Central PMCID: PMC11544551.

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Scheetz TE, Tollefson MR, Roos BR, Boese EA, Pouw AE, Stone EM, Schnieders MJ, Fingert JH. METTL23 Variants and Patients With Normal-Tension Glaucoma. JAMA Ophthalmol. 2024 Nov 1;142(11):1037-1045. doi: 10.1001/jamaophthalmol.2024.3829. PubMed PMID: 39325437; PubMed Central PMCID: PMC11428026.

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Meyer KJ, Mercer HE, Roos BR, Fingert JH, Anderson MG. Minimal phenotypes in transgenic mice with the human LOXL1/LOXL1-AS1 locus associated with exfoliation glaucoma. Vision Res. 2024 Oct;223:108464. doi: 10.1016/j.visres.2024.108464. Epub 2024 Aug 15. PubMed PMID: 39151208; PubMed Central PMCID: PMC11381136.

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Stuart KV, Biradar MI, Luben RN, Dhaun N, Wagner SK, Warwick AN, Sun Z, Madjedi KM, Pasquale LR, Wiggs JL, Kang JH, Lentjes MAH, Aschard H, Kim J, Foster PJ, Khawaja AP. The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population. Ophthalmol Glaucoma. 2024 Sep-Oct;7(5):499-511. doi: 10.1016/j.ogla.2024.04.010. Epub 2024 May 8. PubMed PMID: 38723778.

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Dotson AD, Fingert JH, Boese EA. Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism. Am J Ophthalmol Case Rep. 2024 Jun;34:102020. doi: 10.1016/j.ajoc.2024.102020. eCollection 2024 Jun. PubMed PMID: 38404485; PubMed Central PMCID: PMC10884796.

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Lee RH, Kang JH, Wiggs JL, Wagner SK, Khawaja AP, Pasquale LR. Relationship Between Oral Health and Glaucoma Traits in the United Kingdom. J Glaucoma. 2024 Jun 1;33(6):400-408. doi: 10.1097/IJG.0000000000002370. Epub 2024 Mar 5. PubMed PMID: 38506820; PubMed Central PMCID: PMC11142868.

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Meyer KJ, Fingert JH, Anderson MG. Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene. Hum Mol Genet. 2024 May 20;. doi: 10.1093/hmg/ddae088. [Epub ahead of print] PubMed PMID: 38770563.

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Hehr N, Barlow PB, Najdawi W, Reyes AG, Boese E, Fingert JH, Pouw AE. The Effect of Insurance Coverage Laws on Glaucoma Eyedrop Medication Usage. Ophthalmology. 2024 Apr;131(4):507-509. doi: 10.1016/j.ophtha.2023.12.022. Epub 2023 Dec 22. PubMed PMID: 38142821.

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Singh RK, Zhao Y, Elze T, Fingert J, Gordon M, Kass MA, Luo Y, Pasquale LR, Scheetz T, Segrè AV, Wiggs JL, Zebardast N. Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study. JAMA Ophthalmol. 2024 Apr 1;142(4):356-363. doi: 10.1001/jamaophthalmol.2024.0151. PubMed PMID: 38483402; PubMed Central PMCID: PMC10941023.

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Singh RK, Smith S, Fingert J, Gordon M, Kass M, Scheetz T, Segrè AV, Wiggs J, Elze T, Zebardast N. Machine Learning-Derived Baseline Visual Field Patterns Predict Future Glaucoma Onset in the Ocular Hypertension Treatment Study. Invest Ophthalmol Vis Sci. 2024 Feb 1;65(2):35. doi: 10.1167/iovs.65.2.35. PubMed PMID: 38393715; PubMed Central PMCID: PMC10901249.

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Hamel AR, Yan W, Rouhana JM, Monovarfeshani A, Jiang X, Mehta PA, Advani J, Luo Y, Liang Q, Rajasundaram S, Shrivastava A, Duchinski K, Mantena S, Wang J, van Zyl T, Pasquale LR, Swaroop A, Gharahkhani P, Khawaja AP, MacGregor S, Chen R, Vitart V, Sanes JR, Wiggs JL, Segrè AV. Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma. Nat Commun. 2024 Jan 9;15(1):396. doi: 10.1038/s41467-023-44380-y. PubMed PMID: 38195602; PubMed Central PMCID: PMC10776627.

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Tejan-Kamara AZ, Boese EA, Pouw AE, Sears NC, Roos BR, Stone EM, Scheetz TE, Fingert JH. Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma. Ophthalmol Glaucoma. 2023 Nov-Dec;6(6):668-670. doi: 10.1016/j.ogla.2023.05.006. Epub 2023 May 22. PubMed PMID: 37224920.

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Boese EA, Alward WLM, Kwon YH, Roos BR, Stone EM, Scheetz TE, Fingert JH. Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population. J Glaucoma. 2023 Nov 1;32(11):e156-e160. doi: 10.1097/IJG.0000000000002254. Epub 2023 Jun 16. PubMed PMID: 37327471.

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Liu WW, Kinzy TG, Cooke Bailey JN, Xu Z, Hysi P, Wiggs JL. Mechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma. Sci Rep. 2023 Sep 23;13(1):15871. doi: 10.1038/s41598-023-43072-3. PubMed PMID: 37741866; PubMed Central PMCID: PMC10517927.

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Fox AR, Fingert JH. Familial normal tension glaucoma genetics. Prog Retin Eye Res. 2023 Sep;96:101191. doi: 10.1016/j.preteyeres.2023.101191. Epub 2023 Jun 22. Review. PubMed PMID: 37353142.

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Boese EA, Drack AV, Roos BR, Alward WLM, Tollefson MR, Schnieders MJ, Scheetz TE, Boldt HC, Stone EM, Fingert JH. GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery. JAMA Ophthalmol. 2023 Sep 1;141(9):872-879. doi: 10.1001/jamaophthalmol.2023.3535. PubMed PMID: 37589989; PubMed Central PMCID: PMC10436186.

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Stuart KV, Luben RN, Warwick AN, Madjedi KM, Patel PJ, Biradar MI, Sun Z, Chia MA, Pasquale LR, Wiggs JL, Kang JH, Kim J, Aschard H, Tran JH, Lentjes MAH, Foster PJ, Khawaja AP. The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank. Ophthalmol Glaucoma. 2023 Jul-Aug;6(4):366-379. doi: 10.1016/j.ogla.2022.11.008. Epub 2022 Dec 5. PubMed PMID: 36481453; PubMed Central PMCID: PMC10239785.

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Aboobakar IF, Kinzy TG, Zhao Y, Fan B, Pasquale LR, Qassim A, Kolovos A, Schmidt JM, Craig JE, Cooke Bailey JN, Wiggs JL. Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma Phenotypes. Ophthalmology. 2023 Jul;130(7):756-763. doi: 10.1016/j.ophtha.2023.02.018. Epub 2023 Feb 20. PubMed PMID: 36813040; PubMed Central PMCID: PMC10330404.

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Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, Pasutto F, Hammond C, Young TL, Hysi P, Lotery AJ, Jorgenson E, Choquet H, Hauser M, Cooke Bailey JN, Nakazawa T, Akiyama M, Shiga Y, Fuller ZL, Wang X, Hewitt AW, Craig JE, Pasquale LR, Mackey DA, Wiggs JL, Khawaja AP, Segrè AV, MacGregor S. Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci. Nat Genet. 2023 Jul;55(7):1116-1125. doi: 10.1038/s41588-023-01428-5. Epub 2023 Jun 29. PubMed PMID: 37386247; PubMed Central PMCID: PMC10335935.

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Diaz-Torres S, He W, Thorp J, Seddighi S, Mullany S, Hammond CJ, Hysi PG, Pasquale LR, Khawaja AP, Hewitt AW, Craig JE, Mackey DA, Wiggs JL, van Duijn C, Lupton MK, Ong JS, MacGregor S, Gharahkhani P. Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders. EBioMedicine. 2023 Jun;92:104615. doi: 10.1016/j.ebiom.2023.104615. Epub 2023 May 16. PubMed PMID: 37201334; PubMed Central PMCID: PMC10206164.

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Tejan-Kamara AZ, Murhammer JM, Fingert JH. Alpha-gal syndrome (AGS) in a glaucoma suspect with narrow iridocorneal angles. Am J Ophthalmol Case Rep. 2023 Mar;29:101811. doi: 10.1016/j.ajoc.2023.101811. eCollection 2023 Mar. PubMed PMID: 36798447; PubMed Central PMCID: PMC9926184.

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Tran JH, Stuart KV, de Vries V, Vergroesen JE, Cousins CC, Hysi PG, Do R, Rocheleau G, Kang JH, Wiggs JL, MacGregor S, Khawaja AP, Mackey DA, Klaver CCW, Ramdas WD, Pasquale LR. Genetic Associations Between Smoking- and Glaucoma-Related Traits. Transl Vis Sci Technol. 2023 Feb 1;12(2):20. doi: 10.1167/tvst.12.2.20. PubMed PMID: 36786746; PubMed Central PMCID: PMC9932549.

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Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, Fingert JH, Hewitt AW, Siggs OM, Whisenhunt K, Young TL, Mackey DA, Dubowsky A, Souzeau E. Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel. Hum Mutat. 2022 Dec;43(12):2170-2186. doi: 10.1002/humu.24482. Epub 2022 Oct 19. PubMed PMID: 36217948; PubMed Central PMCID: PMC9771967.

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He W, Han X, Ong JS, Hewitt AW, Mackey DA, Gharahkhani P, MacGregor S. Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging. JAMA Ophthalmol. 2022 Jun 1;140(6):568-576. doi: 10.1001/jamaophthalmol.2022.0891. PubMed PMID: 35446358; PubMed Central PMCID: PMC9026225.

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Kim J, Kennedy Neary MT, Aschard H, Palakkamanil MM, Do R, Wiggs JL, Khawaja AP, Pasquale LR, Kang JH. Statin Use in Relation to Intraocular Pressure, Glaucoma, and Ocular Coherence Tomography Parameters in the UK Biobank. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):31. doi: 10.1167/iovs.63.5.31. PubMed PMID: 35612836; PubMed Central PMCID: PMC9150836.

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Boese EA, Alward WLM, Fingert JH. Gonioscopy-Assisted Transluminal Trabeculotomy for Myocilin Juvenile Glaucoma. Ophthalmol Glaucoma. 2022 May-Jun;5(3):369-370. doi: 10.1016/j.ogla.2021.07.003. Epub 2021 Jul 14. PubMed PMID: 34273563.

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Quigley HA, Stone EM, Fingert JH. Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years. JAMA Ophthalmol. 2022 May 1;140(5):543-544. doi: 10.1001/jamaophthalmol.2022.0556. PubMed PMID: 35389460.

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Holm E, Holm M, Vilhelmsen K, Andorsdottir G, Vorum H, Simpson A, Roos BR, Fingert JH, Rosenberg T. Prevalence of Open-angle Glaucoma in the Faroese Population. J Glaucoma. 2022 Feb 1;31(2):72-78. doi: 10.1097/IJG.0000000000001921. PubMed PMID: 34342283; PubMed Central PMCID: PMC8795462.

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Alawa KA, Fingert JH, Sears NC. Cavitary Optic Disc Anomaly. Ophthalmol Glaucoma. 2022 Jan-Feb;5(1):76. doi: 10.1016/j.ogla.2021.09.008. PubMed PMID: 35067279.

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Meyer KJ, Pellack D, Hedberg-Buenz A, Pomernackas N, Soukup D, Wang K, Fingert JH, Anderson MG. Recombinant adenovirus causes prolonged mobilization of macrophages in the anterior chambers of mice. Mol Vis. 2021;27:741-756. eCollection 2021. PubMed PMID: 35136346; PubMed Central PMCID: PMC8763664.

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Han IC, Burnight ER, Kaalberg EE, Boyce TM, Stone EM, Fingert JH, Mullins RF, Tucker BA, Wiley LA. Chimeric Helper-Dependent Adenoviruses Transduce Retinal Ganglion Cells and Müller Cells in Human Retinal Explants. J Ocul Pharmacol Ther. 2021 Dec;37(10):575-579. doi: 10.1089/jop.2021.0057. Epub 2021 Oct 1. PubMed PMID: 34597181; PubMed Central PMCID: PMC8713574.

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Zebardast N, Sekimitsu S, Wang J, Elze T, Gharahkhani P, Cole BS, Lin MM, Segrè AV, Wiggs JL. Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank. Ophthalmology. 2021 Sep;128(9):1300-1311. doi: 10.1016/j.ophtha.2021.03.007. Epub 2021 Mar 10. PubMed PMID: 33713785; PubMed Central PMCID: PMC9134646.

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Colbert MK, Ho LC, van der Merwe Y, Yang X, McLellan GJ, Hurley SA, Field AS, Yun H, Du Y, Conner IP, Parra C, Faiq MA, Fingert JH, Wollstein G, Schuman JS, Chan KC. Diffusion Tensor Imaging of Visual Pathway Abnormalities in Five Glaucoma Animal Models. Invest Ophthalmol Vis Sci. 2021 Aug 2;62(10):21. doi: 10.1167/iovs.62.10.21. PubMed PMID: 34410298; PubMed Central PMCID: PMC8383913.

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Lee K, Warren AK, Abràmoff MD, Wahle A, Whitmore SS, Han IC, Fingert JH, Scheetz TE, Mullins RF, Sonka M, Sohn EH. Automated segmentation of choroidal layers from 3-dimensional macular optical coherence tomography scans. J Neurosci Methods. 2021 Aug 1;360:109267. doi: 10.1016/j.jneumeth.2021.109267. Epub 2021 Jun 19. PubMed PMID: 34157370; PubMed Central PMCID: PMC8324559.

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van der Heide C, Goar W, Meyer KJ, Alward WLM, Boese EA, Sears NC, Roos BR, Kwon YH, DeLuca AP, Siggs OM, Gonzaga-Jauregui C, Sheffield VC, Wang K, Stone EM, Mullins RF, Anderson MG, Fan BJ, Ritch R, Craig JE, Wiggs JL, Scheetz TE, Fingert JH. Exome-based investigation of the genetic basis of human pigmentary glaucoma. BMC Genomics. 2021 Jun 26;22(1):477. doi: 10.1186/s12864-021-07782-0. PubMed PMID: 34174832; PubMed Central PMCID: PMC8235805.

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Currant H, Hysi P, Fitzgerald TW, Gharahkhani P, Bonnemaijer PWM, Senabouth A, Hewitt AW, Atan D, Aung T, Charng J, Choquet H, Craig J, Khaw PT, Klaver CCW, Kubo M, Ong JS, Pasquale LR, Reisman CA, Daniszewski M, Powell JE, Pébay A, Simcoe MJ, Thiadens AAHJ, van Duijn CM, Yazar S, Jorgenson E, MacGregor S, Hammond CJ, Mackey DA, Wiggs JL, Foster PJ, Patel PJ, Birney E, Khawaja AP. Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. PLoS Genet. 2021 May;17(5):e1009497. doi: 10.1371/journal.pgen.1009497. eCollection 2021 May. PubMed PMID: 33979322; PubMed Central PMCID: PMC8143408.

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Fox AR, Alward WLM, Fingert JH. Aqueous Misdirection After Trabeculectomy in a Down Syndrome Patient With Angle-closure Glaucoma. J Glaucoma. 2021 May 1;30(5):e269-e270. doi: 10.1097/IJG.0000000000001831. PubMed PMID: 33710067.

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Pouw AE, Greiner MA, Coussa RG, Jiao C, Han IC, Skeie JM, Fingert JH, Mullins RF, Sohn EH. Cell-Matrix Interactions in the Eye: From Cornea to Choroid. Cells. 2021 Mar 20;10(3). doi: 10.3390/cells10030687. Review. PubMed PMID: 33804633; PubMed Central PMCID: PMC8003714.

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Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN, Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. PubMed PMID: 33627673; PubMed Central PMCID: PMC7904932.

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Sohn EE, Han IC, Roos BR, Faga B, Luse MA, Binkley EM, Boldt HC, Folk JC, Russell SR, Mullins RF, Fingert JH, Stone EM, Scheetz TE. Genetic association between MMP9 and choroidal neovascularization in age-related macular degeneration. Ophthalmology Science. 2021; 1:100002. doi: https://doi.org/10.1016/j.xops.2020.100002.

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Hagedorn J, Avdic A, Schnieders MJ, Roos BR, Kwon YH, Drack AV, Boese EA, Fingert JH. Nanophthalmos patient with a THR518MET mutation in MYRF, a case report. BMC Ophthalmol. 2020 Oct 1;20(1):388. doi: 10.1186/s12886-020-01659-8. PubMed PMID: 33004036; PubMed Central PMCID: PMC7528587.

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Margeta MA, Letcher SM, Igo RP Jr, Cooke Bailey JN, Pasquale LR, Haines JL, Butovsky O, Wiggs JL. Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4. Invest Ophthalmol Vis Sci. 2020 Jul 1;61(8):3. doi: 10.1167/iovs.61.8.3. PubMed PMID: 32614373; PubMed Central PMCID: PMC7425753.

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Quist TS, Johnson CA, Robin AL, Fingert JH. Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree. Am J Ophthalmol. 2020 Jun;214:52-62. doi: 10.1016/j.ajo.2020.01.017. Epub 2020 Jan 24. PubMed PMID: 31987900; PubMed Central PMCID: PMC7282998.

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Boese EA, Critser DB, Fingert JH. High Iris Insertion in Axenfeld-Rieger Syndrome. Ophthalmology. 2020 Jun;127(6):768. doi: 10.1016/j.ophtha.2020.02.012. PubMed PMID: 32444018.

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Sears NC, Darbro BW, Alward WLM, Fingert JH. Progressive optic disc cupping over 20 years in a patient with TBK1-associated glaucoma. Ophthalmol Glaucoma. 2020 Mar-Apr;3(2):167-168. doi: 10.1016/j.ogla.2019.11.003. Epub 2019 Nov 16. PubMed PMID: 32632409; PubMed Central PMCID: PMC7337276.