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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.
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.
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.
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.
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.
Boese EA, Alward WLM, Kwon YH, Roos BR, Stone EM, Scheetz TE, Fingert JH. Thrombospondin Mutations and Primary Congenital Glaucoma Patients in a United States Population. J Glaucoma. 2023 Jun 16;. doi: 10.1097/IJG.0000000000002254. [Epub ahead of print] PubMed PMID: 37327471.
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 May 22;. doi: 10.1016/j.ogla.2023.05.006. [Epub ahead of print] PubMed PMID: 37224920.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Craig JE, Han X, Qassim A, Hassall M, Cooke Bailey JN, Kinzy TG, Khawaja AP, An J, Marshall H, Gharahkhani P, Igo RP Jr, Graham SL, Healey PR, Ong JS, Zhou T, Siggs O, Law MH, Souzeau E, Ridge B, Hysi PG, Burdon KP, Mills RA, Landers J, Ruddle JB, Agar A, Galanopoulos A, White AJR, Willoughby CE, Andrew NH, Best S, Vincent AL, Goldberg I, Radford-Smith G, Martin NG, Montgomery GW, Vitart V, Hoehn R, Wojciechowski R, Jonas JB, Aung T, Pasquale LR, Cree AJ, Sivaprasad S, Vallabh NA, Viswanathan AC, Pasutto F, Haines JL, Klaver CCW, van Duijn CM, Casson RJ, Foster PJ, Khaw PT, Hammond CJ, Mackey DA, Mitchell P, Lotery AJ, Wiggs JL, Hewitt AW, MacGregor S. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet. 2020 Feb;52(2):160-166. doi: 10.1038/s41588-019-0556-y. Epub 2020 Jan 20. PubMed PMID: 31959993; PubMed Central PMCID: PMC8056672.
Boese EA, Tollefson MR, Schnieders MJ, Darbro BW, Alward WLM, Fingert JH. Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes. Curr Eye Res. 2020 Jan;45(1):91-96. doi: 10.1080/02713683.2019.1649704. Epub 2019 Aug 14. PubMed PMID: 31361967; PubMed Central PMCID: PMC10413309.
Bonnemaijer PWM, Leeuwen EMV, Iglesias AI, Gharahkhani P, Vitart V, Khawaja AP, Simcoe M, Höhn R, Cree AJ, Igo RP, Gerhold-Ay A, Nickels S, Wilson JF, Hayward C, Boutin TS, Polašek O, Aung T, Khor CC, Amin N, Lotery AJ, Wiggs JL, Cheng CY, Hysi PG, Hammond CJ, Thiadens AAHJ, MacGregor S, Klaver CCW, Duijn CMV. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Commun Biol. 2019;2:435. doi: 10.1038/s42003-019-0634-9. eCollection 2019. PubMed PMID: 31798171; PubMed Central PMCID: PMC6881308.
Hauser MA, Allingham RR, Aung T, Van Der Heide CJ, Taylor KD, Rotter JI, Wang SJ, Bonnemaijer PWM, Williams SE, Abdullahi SM, Abu-Amero KK, Anderson MG, Akafo S, Alhassan MB, Asimadu I, Ayyagari R, Bakayoko S, Nyamsi PB, Bowden DW, Bromley WC, Budenz DL, Carmichael TR, Challa P, Chen YI, Chuka-Okosa CM, Cooke Bailey JN, Costa VP, Cruz DA, DuBiner H, Ervin JF, Feldman RM, Flamme-Wiese M, Gaasterland DE, Garnai SJ, Girkin CA, Guirou N, Guo X, Haines JL, Hammond CJ, Herndon L, Hoffmann TJ, Hulette CM, Hydara A, Igo RP Jr, Jorgenson E, Kabwe J, Kilangalanga NJ, Kizor-Akaraiwe N, Kuchtey RW, Lamari H, Li Z, Liebmann JM, Liu Y, Loos RJF, Melo MB, Moroi SE, Msosa JM, Mullins RF, Nadkarni G, Napo A, Ng MCY, Nunes HF, Obeng-Nyarkoh E, Okeke A, Okeke S, Olaniyi O, Olawoye O, Oliveira MB, Pasquale LR, Perez-Grossmann RA, Pericak-Vance MA, Qin X, Ramsay M, Resnikoff S, Richards JE, Schimiti RB, Sim KS, Sponsel WE, Svidnicki PV, Thiadens AAHJ, Uche NJ, van Duijn CM, de Vasconcellos JPC, Wiggs JL, Zangwill LM, Risch N, Milea D, Ashaye A, Klaver CCW, Weinreb RN, Ashley Koch AE, Fingert JH, Khor CC. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. JAMA. 2019 Nov 5;322(17):1682-1691. doi: 10.1001/jama.2019.16161. PubMed PMID: 31688885; PubMed Central PMCID: PMC6865235.
Laville V, Kang JH, Cousins CC, Iglesias AI, Nagy R, Cooke Bailey JN, Igo RP Jr, Song YE, Chasman DI, Christen WG, Kraft P, Rosner BA, Hu F, Wilson JF, Gharahkhani P, Hewitt AW, Mackey DA, Hysi PG, Hammond CJ, vanDuijn CM, Haines JL, Vitart V, Fingert JH, Hauser MA, Aschard H, Wiggs JL, Khawaja AP, MacGregor S, Pasquale LR. Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes. Am J Ophthalmol. 2019 Oct;206:245-255. doi: 10.1016/j.ajo.2019.05.015. Epub 2019 May 20. PubMed PMID: 31121135; PubMed Central PMCID: PMC6864262.
Fan BJ, Bailey JC, Igo RP Jr, Kang JH, Boumenna T, Brilliant MH, Budenz DL, Fingert JH, Gaasterland T, Gaasterland D, Hauser MA, Kraft P, Lee RK, Lichter PR, Liu Y, Moroi SE, Myers JS, Pericak-Vance MA, Realini A, Rhee DJ, Richards JE, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wollstein G, Zack DJ, Haines JL, Pasquale LR, Wiggs JL. Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis. JAMA Ophthalmol. 2019 Oct 1;137(10):1190-1194. doi: 10.1001/jamaophthalmol.2019.3109. PubMed PMID: 31436842; PubMed Central PMCID: PMC6707005.
Sears NC, Boese EA, Miller MA, Fingert JH. Mendelian genes in primary open angle glaucoma. Exp Eye Res. 2019 Sep;186:107702. doi: 10.1016/j.exer.2019.107702. Epub 2019 Jun 22. Review. PubMed PMID: 31238079; PubMed Central PMCID: PMC10207284.
Tandon A, Zhang Z, Fingert JH, Kwon YH, Wang K, Alward WLM. The Heritability of Pigment Dispersion Syndrome and Pigmentary Glaucoma. Am J Ophthalmol. 2019 Jun;202:55-61. doi: 10.1016/j.ajo.2019.02.017. Epub 2019 Feb 21. PubMed PMID: 30796891; PubMed Central PMCID: PMC6548626.
Alward WLM, van der Heide C, Khanna CL, Roos BR, Sivaprasad S, Kam J, Ritch R, Lotery A, Igo RP Jr, Cooke Bailey JN, Stone EM, Scheetz TE, Kwon YH, Pasquale LR, Wiggs JL, Fingert JH. Myocilin Mutations in Patients With Normal-Tension Glaucoma. JAMA Ophthalmol. 2019 May 1;137(5):559-563. doi: 10.1001/jamaophthalmol.2019.0005. PubMed PMID: 30816940; PubMed Central PMCID: PMC6512256.
Hwang ES, Morgan DJ, Pennington KL, Owen LA, Fingert JH, Bernstein PS, DeAngelis MM. Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology. BMC Med Genet. 2019 Apr 27;20(1):63. doi: 10.1186/s12881-019-0800-4. PubMed PMID: 31029096; PubMed Central PMCID: PMC6487068.
Fingert JH. Penetrance of Myocilin Mutations-Who Gets Glaucoma?. JAMA Ophthalmol. 2019 Jan 1;137(1):35-37. doi: 10.1001/jamaophthalmol.2018.4470. PubMed PMID: 30267050.
Bonnemaijer PWM, Iglesias AI, Nadkarni GN, Sanyiwa AJ, Hassan HG, Cook C, Simcoe M, Taylor KD, Schurmann C, Belbin GM, Kenny EE, Bottinger EP, van de Laar S, Wiliams SEI, Akafo SK, Ashaye AO, Zangwill LM, Girkin CA, Ng MCY, Rotter JI, Weinreb RN, Li Z, Allingham RR, Nag A, Hysi PG, Meester-Smoor MA, Wiggs JL, Hauser MA, Hammond CJ, Lemij HG, Loos RJF, van Duijn CM, Thiadens AAHJ, Klaver CCW. Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. Hum Genet. 2018 Oct;137(10):847-862. doi: 10.1007/s00439-018-1943-7. Epub 2018 Oct 13. PubMed PMID: 30317457; PubMed Central PMCID: PMC6754628.
van der Heide CJ, Alward WLM, Flamme-Wiese M, Riker M, Syed NA, Anderson MG, Carter K, Kuehn MH, Stone EM, Mullins RF, Fingert JH. Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye. Ophthalmol Glaucoma. 2018 Sep-Oct;1(2):132-138. doi: 10.1016/j.ogla.2018.08.004. Epub 2018 Aug 17. PubMed PMID: 30906929; PubMed Central PMCID: PMC6425711.
Janson BJ, Alward WL, Kwon YH, Bettis DI, Fingert JH, Provencher LM, Goins KM, Wagoner MD, Greiner MA. Glaucoma-associated corneal endothelial cell damage: A review. Surv Ophthalmol. 2018 Jul-Aug;63(4):500-506. doi: 10.1016/j.survophthal.2017.11.002. Epub 2017 Nov 14. Review. PubMed PMID: 29146208.
Anderson MG, Meyer KJ, Hedberg-Buenz A, Fingert JH. Update on Animal Models of Exfoliation Syndrome. J Glaucoma. 2018 Jul;27 Suppl 1(Suppl 1):S78-S82. doi: 10.1097/IJG.0000000000000911. Review. PubMed PMID: 29419647; PubMed Central PMCID: PMC6028301.
Burnight ER, Giacalone JC, Cooke JA, Thompson JR, Bohrer LR, Chirco KR, Drack AV, Fingert JH, Worthington KS, Wiley LA, Mullins RF, Stone EM, Tucker BA. CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration. Prog Retin Eye Res. 2018 Jul;65:28-49. doi: 10.1016/j.preteyeres.2018.03.003. Epub 2018 Mar 22. Review. PubMed PMID: 29578069; PubMed Central PMCID: PMC8210531.
Khawaja AP, Cooke Bailey JN, Wareham NJ, Scott RA, Simcoe M, Igo RP Jr, Song YE, Wojciechowski R, Cheng CY, Khaw PT, Pasquale LR, Haines JL, Foster PJ, Wiggs JL, Hammond CJ, Hysi PG. Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Nat Genet. 2018 Jun;50(6):778-782. doi: 10.1038/s41588-018-0126-8. Epub 2018 May 21. PubMed PMID: 29785010; PubMed Central PMCID: PMC5985943.
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD, Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF, Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. PubMed PMID: 29760442; PubMed Central PMCID: PMC5951816.
Fan BJ, Chen X, Sondhi N, Sharmila PF, Soumittra N, Sripriya S, Sacikala S, Asokan R, Friedman DS, Pasquale LR, Gao XR, Vijaya L, Cooke Bailey J, Vitart V, MacGregor S, Hammond CJ, Khor CC, Haines JL, George R, Wiggs JL. Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2495-2502. doi: 10.1167/iovs.17-23536. PubMed PMID: 29847655; PubMed Central PMCID: PMC5961220.
Shiga Y, Akiyama M, Nishiguchi KM, Sato K, Shimozawa N, Takahashi A, Momozawa Y, Hirata M, Matsuda K, Yamaji T, Iwasaki M, Tsugane S, Oze I, Mikami H, Naito M, Wakai K, Yoshikawa M, Miyake M, Yamashiro K, Kashiwagi K, Iwata T, Mabuchi F, Takamoto M, Ozaki M, Kawase K, Aihara M, Araie M, Yamamoto T, Kiuchi Y, Nakamura M, Ikeda Y, Sonoda KH, Ishibashi T, Nitta K, Iwase A, Shirato S, Oka Y, Satoh M, Sasaki M, Fuse N, Suzuki Y, Cheng CY, Khor CC, Baskaran M, Perera S, Aung T, Vithana EN, Cooke Bailey JN, Kang JH, Pasquale LR, Haines JL, Wiggs JL, Burdon KP, Gharahkhani P, Hewitt AW, Mackey DA, MacGregor S, Craig JE, Allingham RR, Hauser M, Ashaye A, Budenz DL, Akafo S, Williams SEI, Kamatani Y, Nakazawa T, Kubo M. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. Hum Mol Genet. 2018 Apr 15;27(8):1486-1496. doi: 10.1093/hmg/ddy053. PubMed PMID: 29452408; PubMed Central PMCID: PMC6251544.
Struebing FL, King R, Li Y, Cooke Bailey JN, Wiggs JL, Geisert EE. Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse. Exp Eye Res. 2018 Apr;169:61-67. doi: 10.1016/j.exer.2017.12.013. Epub 2018 Feb 3. PubMed PMID: 29421330; PubMed Central PMCID: PMC5939594.
Schnieders MJ, Goar W, Griess M, Roos BR, Scheetz TE, Stone EM, Fingert JH. A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree. Eye (Lond). 2018 Apr;32(4):843-845. doi: 10.1038/eye.2017.303. Epub 2018 Jan 19. PubMed PMID: 29350691; PubMed Central PMCID: PMC5898874.
Giacalone JC, Sharma TP, Burnight ER, Fingert JF, Mullins RF, Stone EM, Tucker BA. CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells. Curr Protoc Stem Cell Biol. 2018 Feb 28;44:5B.7.1-5B.7.22. doi: 10.1002/cpsc.46. PubMed PMID: 29512106; PubMed Central PMCID: PMC5846340.
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