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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.
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.
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.
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.
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.
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 Aug 22;. doi: 10.1001/jamaophthalmol.2019.3109. [Epub ahead of print] PubMed PMID: 31436842; PubMed Central PMCID: PMC6707005.
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: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.
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.
Gharahkhani P, Burdon KP, Cooke Bailey JN, Hewitt AW, Law MH, Pasquale LR, Kang JH, Haines JL, Souzeau E, Zhou T, Siggs OM, Landers J, Awadalla M, Sharma S, Mills RA, Ridge B, Lynn D, Casson R, Graham SL, Goldberg I, White A, Healey PR, Grigg J, Lawlor M, Mitchell P, Ruddle J, Coote M, Walland M, Best S, Vincent A, Gale J, RadfordSmith G, Whiteman DC, Montgomery GW, Martin NG, Mackey DA, Wiggs JL, MacGregor S, Craig JE. Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep. 2018 Feb 15;8(1):3124. doi: 10.1038/s41598-018-20435-9. PubMed PMID: 29449654; PubMed Central PMCID: PMC5814451.
Bailey JNC, Gharahkhani P, Kang JH, Butkiewicz M, Sullivan DA, Weinreb RN, Aschard H, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert JH, Budenz DL, Realini T, Gaasterland T, Scott WK, Singh K, Sit AJ, Igo RP Jr, Song YE, Hark L, Ritch R, Rhee DJ, Vollrath D, Zack DJ, Medeiros F, Vajaranant TS, Chasman DI, Christen WG, Pericak-Vance MA, Liu Y, Kraft P, Richards JE, Rosner BA, Hauser MA, Craig JE, Burdon KP, Hewitt AW, Mackey DA, Haines JL, MacGregor S, Wiggs JL, Pasquale LR. Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):629-636. doi: 10.1167/iovs.17-22708. PubMed PMID: 29392307; PubMed Central PMCID: PMC5795896.
King R, Struebing FL, Li Y, Wang J, Koch AA, Cooke Bailey JN, Gharahkhani P, MacGregor S, Allingham RR, Hauser MA, Wiggs JL, Geisert EE. Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma. PLoS Genet. 2018 Jan;14(1):e1007145. doi: 10.1371/journal.pgen.1007145. eCollection 2018 Jan. PubMed PMID: 29370175; PubMed Central PMCID: PMC5784889.
Chirco KR, Lewis CJ, Scheetz TE, Johnston RM, Tucker BA, Stone EM, Fingert JH, Mullins RF. Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism. Ophthalmic Genet. 2018 Jan-Feb;39(1):68-72. doi: 10.1080/13816810.2017.1369550. Epub 2017 Sep 26. PubMed PMID: 28949775; PubMed Central PMCID: PMC5751420.
DeLuca AP, Alward WLM, Liebmann J, Ritch R, Kawase K, Kwon YH, Robin AL, Stone EM, Scheetz TE, Fingert JH. Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients. J Glaucoma. 2017 Dec;26(12):1063-1067. doi: 10.1097/IJG.0000000000000792. PubMed PMID: 28984711; PubMed Central PMCID: PMC5716909.
Chintalapudi SR, Maria D, Di Wang X, Bailey JNC, Hysi PG, Wiggs JL, Williams RW, Jablonski MM. Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. Nat Commun. 2017 Nov 24;8(1):1755. doi: 10.1038/s41467-017-00837-5. PubMed PMID: 29176626; PubMed Central PMCID: PMC5701146.
Aschard H, Kang JH, Iglesias AI, Hysi P, Cooke Bailey JN, Khawaja AP, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert JH, Budenz DL, Realini T, Gaasterland T, Scott WK, Singh K, Sit AJ, Igo RP Jr, Song YE, Hark L, Ritch R, Rhee DJ, Gulati V, Haven S, Vollrath D, Zack DJ, Medeiros F, Weinreb RN, Cheng CY, Chasman DI, Christen WG, Pericak-Vance MA, Liu Y, Kraft P, Richards JE, Rosner BA, Hauser MA, Klaver CCW, vanDuijn CM, Haines J, Wiggs JL, Pasquale LR. Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis. Eur J Hum Genet. 2017 Nov;25(11):1261-1267. doi: 10.1038/ejhg.2017.136. Epub 2017 Aug 30. PubMed PMID: 28853718; PubMed Central PMCID: PMC5643970.
Jain A, Zode G, Kasetti RB, Ran FA, Yan W, Sharma TP, Bugge K, Searby CC, Fingert JH, Zhang F, Clark AF, Sheffield VC. CRISPR-Cas9-based treatment of myocilin-associated glaucoma. Proc Natl Acad Sci U S A. 2017 Oct 17;114(42):11199-11204. doi: 10.1073/pnas.1706193114. Epub 2017 Oct 2. PubMed PMID: 28973933; PubMed Central PMCID: PMC5651749.
Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH. Primary congenital and developmental glaucomas. Hum Mol Genet. 2017 Aug 1;26(R1):R28-R36. doi: 10.1093/hmg/ddx205. Review. PubMed PMID: 28549150; PubMed Central PMCID: PMC5886473.
Greiner MA, Terveen DC, Vislisel JM, Roos BR, Fingert JH. Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene. Eye (Lond). 2017 Aug;31(8):1250-1252. doi: 10.1038/eye.2017.60. Epub 2017 Apr 7. PubMed PMID: 28387761; PubMed Central PMCID: PMC5558228.
Guo Z, Kwon YH, Lee K, Wang K, Wahle A, Alward WLM, Fingert JH, Bettis DI, Johnson CA, Garvin MK, Sonka M, Abràmoff MD. Optical Coherence Tomography Analysis Based Prediction of Humphrey 24-2 Visual Field Thresholds in Patients With Glaucoma. Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3975-3985. doi: 10.1167/iovs.17-21832. PubMed PMID: 28796875; PubMed Central PMCID: PMC5552000.
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Sunaric Megevand G, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Domínguez FA, González-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, Nöthen MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, Álvarez L, García M, González-Iglesias H, Rodríguez-Calvo PP, Fernández-Vega Cueto L, Oguz Ç, Tamcelik N, Atalay E, Batu B, Aktas D, Kasım B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivelä T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29. PubMed PMID: 28553957; PubMed Central PMCID: PMC6685441.
Kader MA, Namburi P, Ramugade S, Ramakrishnan R, Krishnadas SR, Roos BR, Periasamy S, Robin AL, Fingert JH. Clinical and genetic characterization of a large primary open angle glaucoma pedigree. Ophthalmic Genet. 2017 May-Jun;38(3):222-225. doi: 10.1080/13816810.2016.1193883. Epub 2016 Jun 29. PubMed PMID: 27355837; PubMed Central PMCID: PMC5329139.
Simpson A, Avdic A, Roos BR, DeLuca A, Miller K, Schnieders MJ, Scheetz TE, Alward WL, Fingert JH. LADD syndrome with glaucoma is caused by a novel gene. Mol Vis. 2017;23:179-184. eCollection 2017. PubMed PMID: 28400699; PubMed Central PMCID: PMC5373035.
Afshari NA, Igo RP Jr, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW Jr, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK. Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat Commun. 2017 Mar 30;8:14898. doi: 10.1038/ncomms14898. PubMed PMID: 28358029; PubMed Central PMCID: PMC5379100.
Miller MA, Fingert JH, Bettis DI. Genetics and genetic testing for glaucoma. Curr Opin Ophthalmol. 2017 Mar;28(2):133-138. doi: 10.1097/ICU.0000000000000344. Review. PubMed PMID: 27898466.
Pasquale LR, Aschard H, Kang JH, Bailey JN, Lindström S, Chasman DI, Christen WG, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert J, Budenz DL, Realini T, Gaasterland T, Gaasterland D, Scott WK, Singh K, Sit AJ, Igo RP Jr, Song YE, Hark L, Ritch R, Rhee DJ, Gulati V, Havens S, Vollrath D, Zack DJ, Medeiros F, Weinreb RN, Pericak-Vance MA, Liu Y, Kraft P, Richards JE, Rosner BA, Hauser MA, Haines JL, Wiggs JL. Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample. Menopause. 2017 Feb;24(2):150-156. doi: 10.1097/GME.0000000000000741. PubMed PMID: 27760082; PubMed Central PMCID: PMC5266624.
Springelkamp H, Iglesias AI, Mishra A, Höhn R, Wojciechowski R, Khawaja AP, Nag A, Wang YX, Wang JJ, Cuellar-Partida G, Gibson J, Bailey JN, Vithana EN, Gharahkhani P, Boutin T, Ramdas WD, Zeller T, Luben RN, Yonova-Doing E, Viswanathan AC, Yazar S, Cree AJ, Haines JL, Koh JY, Souzeau E, Wilson JF, Amin N, Müller C, Venturini C, Kearns LS, Kang JH, Tham YC, Zhou T, van Leeuwen EM, Nickels S, Sanfilippo P, Liao J, van der Linde H, Zhao W, van Koolwijk LM, Zheng L, Rivadeneira F, Baskaran M, van der Lee SJ, Perera S, de Jong PT, Oostra BA, Uitterlinden AG, Fan Q, Hofman A, Tai ES, Vingerling JR, Sim X, Wolfs RC, Teo YY, Lemij HG, Khor CC, Willemsen R, Lackner KJ, Aung T, Jansonius NM, Montgomery G, Wild PS, Young TL, Burdon KP, Hysi PG, Pasquale LR, Wong TY, Klaver CC, Hewitt AW, Jonas JB, Mitchell P, Lotery AJ, Foster PJ, Vitart V, Pfeiffer N, Craig JE, Mackey DA, Hammond CJ, Wiggs JL, Cheng CY, van Duijn CM, MacGregor S. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Hum Mol Genet. 2017 Jan 15;26(2):438-453. doi: 10.1093/hmg/ddw399. PubMed PMID: 28073927; PubMed Central PMCID: PMC5968632.
Fingert JH, Miller K, Hedberg-Buenz A, Roos BR, Lewis CJ, Mullins RF, Anderson MG. Transgenic TBK1 mice have features of normal tension glaucoma. Hum Mol Genet. 2017 Jan 1;26(1):124-132. doi: 10.1093/hmg/ddw372. PubMed PMID: 28025332; PubMed Central PMCID: PMC6075615.
Chirco KR, Hazlewood RJ, Miller K, Workalemahu G, Jampol LM, Lesser GR, Mullins RF, Kuehn MH, Fingert JH. MMP19 expression in the human optic nerve. Mol Vis. 2016;22:1429-1436. eCollection 2016. PubMed PMID: 28003733; PubMed Central PMCID: PMC5166795.
Scheetz TE, Faga B, Ortega L, Roos BR, Gordon MO, Kass MA, Wang K, Fingert JH. Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study. Ophthalmology. 2016 Dec;123(12):2527-2536. doi: 10.1016/j.ophtha.2016.08.036. Epub 2016 Oct 1. PubMed PMID: 27707548; PubMed Central PMCID: PMC5121091.
Pasquale LR, Borrás T, Fingert JH, Wiggs JL, Ritch R. Exfoliation syndrome: assembling the puzzle pieces. Acta Ophthalmol. 2016 Sep;94(6):e505-12. doi: 10.1111/aos.12918. Epub 2015 Dec 9. PubMed PMID: 26648185.
Khawaja AP, Cooke Bailey JN, Kang JH, Allingham RR, Hauser MA, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, Medeiros F, Moroi SE, Richards JE, Realini T, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Wollstein G, Zack DJ, Zhang K, Pericak-Vance M, Weinreb RN, Haines JL, Pasquale LR, Wiggs JL. Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):5046-5052. doi: 10.1167/iovs.16-20017. PubMed PMID: 27661856; PubMed Central PMCID: PMC5040191.
Fingert JH, Robin AL, Scheetz TE, Kwon YH, Liebmann JM, Ritch R, Alward WL. Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis). Trans Am Ophthalmol Soc. 2016 Aug;114:T6. PubMed PMID: 27881886; PubMed Central PMCID: PMC5113957.
Liu Y, Bailey JC, Helwa I, Dismuke WM, Cai J, Drewry M, Brilliant MH, Budenz DL, Christen WG, Chasman DI, Fingert JH, Gaasterland D, Gaasterland T, Gordon MO, Igo RP Jr, Kang JH, Kass MA, Kraft P, Lee RK, Lichter P, Moroi SE, Realini A, Richards JE, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Vollrath D, Weinreb R, Medeiros F, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Gonzalez P, Stamer WD, Kuchtey J, Kuchtey RW, Allingham RR, Hauser MA, Pasquale LR, Haines JL, Wiggs JL. A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4528-4535. doi: 10.1167/iovs.16-19688. PubMed PMID: 27537254; PubMed Central PMCID: PMC4991020.
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