{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:06:55Z","timestamp":1783652815153,"version":"3.55.0"},"reference-count":87,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,7,30]],"date-time":"2019-07-30T00:00:00Z","timestamp":1564444800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,7,30]],"date-time":"2019-07-30T00:00:00Z","timestamp":1564444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["P30EY019007, Core Support for Vision Research received by the Department of Ophthalmology, Columbia University"],"award-info":[{"award-number":["P30EY019007, Core Support for Vision Research received by the Department of Ophthalmology, Columbia University"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R01EY023839"],"award-info":[{"award-number":["R01EY023839"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"crossref","award":["Unrestricted funds received by the Department of Ophthalmology, Columbia University"],"award-info":[{"award-number":["Unrestricted funds received by the Department of Ophthalmology, Columbia University"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s12920-019-0560-1","type":"journal-article","created":{"date-parts":[[2019,7,30]],"date-time":"2019-07-30T09:02:53Z","timestamp":1564477373000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia"],"prefix":"10.1186","volume":"12","author":[{"given":"Tatiana V.","family":"Tkatchenko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rupal L.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Nagasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei V.","family":"Tkatchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,7,30]]},"reference":[{"issue":"3","key":"560_CR1","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/S0002-9394(99)00251-2","volume":"128","author":"R Pararajasegaram","year":"1999","unstructured":"Pararajasegaram R. VISION 2020-the right to sight: from strategies to action. Am J Ophthalmol. 1999;128(3):359\u201360.","journal-title":"Am J Ophthalmol"},{"issue":"4","key":"560_CR2","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1001\/archopht.122.4.495","volume":"122","author":"JH Kempen","year":"2004","unstructured":"Kempen JH, Mitchell P, Lee KE, Tielsch JM, Broman AT, Taylor HR, et al. The prevalence of refractive errors among adults in the United States, Western Europe, and Australia. Arch Ophthalmol. 2004;122(4):495\u2013505.","journal-title":"Arch Ophthalmol"},{"issue":"12","key":"560_CR3","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1001\/archopht.1994.01090240032022","volume":"112","author":"JC Javitt","year":"1994","unstructured":"Javitt JC, Chiang YP. The socioeconomic aspects of laser refractive surgery. Arch Ophthalmol. 1994;112(12):1526\u201330.","journal-title":"Arch Ophthalmol"},{"issue":"12","key":"560_CR4","doi-asserted-by":"publisher","first-page":"1632","DOI":"10.1001\/archophthalmol.2009.303","volume":"127","author":"S Vitale","year":"2009","unstructured":"Vitale S, Sperduto RD, Ferris FL 3rd. Increased prevalence of myopia in the United States between 1971-1972 and 1999-2004. Arch Ophthalmol. 2009;127(12):1632\u20139.","journal-title":"Arch Ophthalmol"},{"issue":"5","key":"560_CR5","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1016\/j.ophtha.2016.01.006","volume":"123","author":"BA Holden","year":"2016","unstructured":"Holden BA, Fricke TR, Wilson DA, Jong M, Naidoo KS, Sankaridurg P, et al. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050. Ophthalmology. 2016;123(5):1036\u201342.","journal-title":"Ophthalmology."},{"issue":"1","key":"560_CR6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.47102\/https:\/\/doi.org\/10.47102\/annals-acadmedsg.V33N1p27","volume":"33","author":"LL Lin","year":"2004","unstructured":"Lin LL, Shih YF, Hsiao CK, Chen CJ. Prevalence of myopia in Taiwanese schoolchildren: 1983 to 2000. Ann Acad Med Singap. 2004;33(1):27\u201333.","journal-title":"Ann Acad Med Singap"},{"issue":"5","key":"560_CR7","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1097\/01.opx.0000134905.98403.18","volume":"81","author":"CS Lam","year":"2004","unstructured":"Lam CS, Goldschmidt E, Edwards MH. Prevalence of myopia in local and international schools in Hong Kong. Optom Vis Sci. 2004;81(5):317\u201322.","journal-title":"Optom Vis Sci"},{"key":"560_CR8","volume-title":"Primary care of the posterior segment","author":"LJ Alexander","year":"1994","unstructured":"Alexander LJ. Primary care of the posterior segment. 2nd ed. Appleton & Lange: Connecticut; 1994.","edition":"2"},{"issue":"5","key":"560_CR9","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1111\/j.1475-1313.2005.00298.x","volume":"25","author":"SM Saw","year":"2005","unstructured":"Saw SM, Gazzard G, Shih-Yen EC, Chua WH. Myopia and associated pathological complications. Ophthalmic Physiol Opt. 2005;25(5):381\u201391.","journal-title":"Ophthalmic Physiol Opt"},{"issue":"6","key":"560_CR10","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1016\/j.preteyeres.2012.06.004","volume":"31","author":"DI Flitcroft","year":"2012","unstructured":"Flitcroft DI. The complex interactions of retinal, optical and environmental factors in myopia aetiology. Prog Retin Eye Res. 2012;31(6):622\u201360.","journal-title":"Prog Retin Eye Res"},{"issue":"4","key":"560_CR11","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/j.jcjo.2015.06.001","volume":"50","author":"J Hurst","year":"2015","unstructured":"Hurst J, Johnson D, Law C, Schweitzer K, Sharma S. Value of subjective visual reduction in patients with acute-onset floaters and\/or flashes. Can J Ophthalmol. 2015;50(4):265\u20138.","journal-title":"Can J Ophthalmol"},{"issue":"2","key":"560_CR12","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/j.survophthal.2013.03.006","volume":"59","author":"M Shunmugam","year":"2014","unstructured":"Shunmugam M, Ang GS, Lois N. Giant retinal tears. Surv Ophthalmol. 2014;59(2):192\u2013216.","journal-title":"Surv Ophthalmol"},{"issue":"12","key":"560_CR13","doi-asserted-by":"publisher","first-page":"1473","DOI":"10.1038\/sj.eye.6702511","volume":"21","author":"S Rumelt","year":"2007","unstructured":"Rumelt S, Sarrazin L, Averbukh E, Halpert M, Hemo I. Paediatric vs adult retinal detachment. Eye (Lond). 2007;21(12):1473\u20138.","journal-title":"Eye (Lond)"},{"issue":"2","key":"560_CR14","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1590\/S0004-27492006000200013","volume":"69","author":"MV Brasil","year":"2006","unstructured":"Brasil OF, Brasil MV, Japiassu RM, Biancardi AL, Souza DD, Oliveira RC, et al. Fundus changes evaluation in degenerative myopia. Arq Bras Oftalmol. 2006;69(2):203\u20136.","journal-title":"Arq Bras Oftalmol"},{"issue":"9","key":"560_CR15","first-page":"927","volume":"24","author":"PA Ndiaye","year":"2001","unstructured":"Ndiaye PA, Koffane RR, Wade A, Ndiaye CS, Gomez JC, Ndiaye MR. Frequency of retinal changes in myopia in a black population. J Fr Ophtalmol. 2001;24(9):927\u20139.","journal-title":"J Fr Ophtalmol"},{"issue":"14","key":"560_CR16","first-page":"1779","volume":"43","author":"M Bonnet","year":"1993","unstructured":"Bonnet M. Myopia and rhegmatogenous retinal detachment. Rev Prat. 1993;43(14):1779\u201383.","journal-title":"Rev Prat"},{"issue":"1","key":"560_CR17","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1097\/00006982-199212010-00003","volume":"12","author":"L Pierro","year":"1992","unstructured":"Pierro L, Camesasca FI, Mischi M, Brancato R. Peripheral retinal changes and axial myopia. Retina. 1992;12(1):12\u20137.","journal-title":"Retina."},{"issue":"2","key":"560_CR18","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1097\/00006982-199212020-00009","volume":"12","author":"HE Grossniklaus","year":"1992","unstructured":"Grossniklaus HE, Green WR. Pathologic findings in pathologic myopia. Retina. 1992;12(2):127\u201333.","journal-title":"Retina."},{"key":"560_CR19","first-page":"143","volume":"87","author":"TC Burton","year":"1989","unstructured":"Burton TC. The influence of refractive error and lattice degeneration on the incidence of retinal detachment. Trans Am Ophthalmol Soc. 1989;87:143\u201355 discussion 55-7.","journal-title":"Trans Am Ophthalmol Soc"},{"issue":"4","key":"560_CR20","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/S0002-9394(14)74277-1","volume":"103","author":"RC Pruett","year":"1987","unstructured":"Pruett RC, Weiter JJ, Goldstein RB. Myopic cracks, angioid streaks, and traumatic tears in Bruch's membrane. Am J Ophthalmol. 1987;103(4):537\u201343.","journal-title":"Am J Ophthalmol"},{"issue":"Pt 4","key":"560_CR21","first-page":"480","volume":"103","author":"G Chaine","year":"1983","unstructured":"Chaine G, Sebag J, Coscas G. The induction of retinal detachment. Trans Ophthalmol Soc U K. 1983;103(Pt 4):480\u20135.","journal-title":"Trans Ophthalmol Soc U K"},{"issue":"1","key":"560_CR22","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1159\/000308632","volume":"175","author":"JL Menezo","year":"1977","unstructured":"Menezo JL, Suarez-Reynolds R, Frances J, Vila E. Shape, number and localization of retinal tears in myopic over 8D, aphakic and traumatic cases of retinal detachment. An experience report. Ophthalmologica. 1977;175(1):10\u20138.","journal-title":"Ophthalmologica."},{"issue":"5","key":"560_CR23","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1016\/0002-9394(75)90746-1","volume":"79","author":"JJ Kanski","year":"1975","unstructured":"Kanski JJ. Giant retinal tears. Am J Ophthalmol. 1975;79(5):846\u201352.","journal-title":"Am J Ophthalmol"},{"issue":"1","key":"560_CR24","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.ophtha.2014.07.030","volume":"122","author":"VJ Verhoeven","year":"2015","unstructured":"Verhoeven VJ, Wong KT, Buitendijk GH, Hofman A, Vingerling JR, Klaver CC. Visual consequences of refractive errors in the general population. Ophthalmology. 2015;122(1):101\u20139.","journal-title":"Ophthalmology."},{"issue":"1","key":"560_CR25","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1167\/iovs.12-11158","volume":"54","author":"M Qiu","year":"2013","unstructured":"Qiu M, Wang SY, Singh K, Lin SC. Association between myopia and glaucoma in the United States population. Invest Ophthalmol Vis Sci. 2013;54(1):830\u20135.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"560_CR26","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.ajo.2007.07.043","volume":"145","author":"MR Praveen","year":"2008","unstructured":"Praveen MR, Vasavada AR, Jani UD, Trivedi RH, Choudhary PK. Prevalence of cataract type in relation to axial length in subjects with high myopia and emmetropia in an Indian population. Am J Ophthalmol. 2008;145(1):176\u201381.","journal-title":"Am J Ophthalmol"},{"issue":"2","key":"560_CR27","first-page":"85","volume":"106","author":"NI Loyo-Berrios","year":"2007","unstructured":"Loyo-Berrios NI, Blustein JN. Primary-open glaucoma and myopia: a narrative review. WMJ. 2007;106(2):85\u20139 95.","journal-title":"WMJ"},{"issue":"4","key":"560_CR28","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1001\/archopht.122.4.615","volume":"122","author":"L Pizzarello","year":"2004","unstructured":"Pizzarello L, Abiose A, Ffytche T, Duerksen R, Thulasiraj R, Taylor H, et al. VISION 2020: the right to sight: a global initiative to eliminate avoidable blindness. Arch Ophthalmol. 2004;122(4):615\u201320.","journal-title":"Arch Ophthalmol"},{"issue":"5","key":"560_CR29","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1111\/j.1444-0938.2003.tb03123.x","volume":"86","author":"IG Morgan","year":"2003","unstructured":"Morgan IG. The biological basis of myopic refractive error. Clin Exp Optom. 2003;86(5):276\u201388.","journal-title":"Clin Exp Optom"},{"issue":"1","key":"560_CR30","doi-asserted-by":"publisher","first-page":"E8","DOI":"10.1097\/OPX.0b013e3181940655","volume":"86","author":"TL Young","year":"2009","unstructured":"Young TL. Molecular genetics of human myopia: an update. Optom Vis Sci. 2009;86(1):E8\u2013E22.","journal-title":"Optom Vis Sci"},{"issue":"6","key":"560_CR31","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1016\/j.preteyeres.2010.05.004","volume":"29","author":"PN Baird","year":"2010","unstructured":"Baird PN, Schache M, Dirani M. The GEnes in myopia (GEM) study in understanding the aetiology of refractive errors. Prog Retin Eye Res. 2010;29(6):520\u201342.","journal-title":"Prog Retin Eye Res"},{"issue":"4","key":"560_CR32","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1111\/j.1399-0004.2010.01592.x","volume":"79","author":"R Wojciechowski","year":"2011","unstructured":"Wojciechowski R. Nature and nurture: the complex genetics of myopia and refractive error. Clin Genet. 2011;79(4):301\u201320.","journal-title":"Clin Genet"},{"issue":"9","key":"560_CR33","first-page":"2794","volume":"34","author":"O Parssinen","year":"1993","unstructured":"Parssinen O, Lyyra AL. Myopia and myopic progression among schoolchildren: a three-year follow-up study. Invest Ophthalmol Vis Sci. 1993;34(9):2794\u2013802.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"9240","key":"560_CR34","doi-asserted-by":"publisher","first-page":"1456","DOI":"10.1016\/S0140-6736(00)02864-6","volume":"356","author":"DA Goss","year":"2000","unstructured":"Goss DA. Nearwork and myopia. Lancet. 2000;356(9240):1456\u20137.","journal-title":"Lancet."},{"issue":"19","key":"560_CR35","doi-asserted-by":"publisher","first-page":"2511","DOI":"10.1016\/S0042-6989(01)00135-3","volume":"41","author":"IF Hepsen","year":"2001","unstructured":"Hepsen IF, Evereklioglu C, Bayramlar H. The effect of reading and near-work on the development of myopia in emmetropic boys: a prospective, controlled, three-year follow-up study. Vis Res. 2001;41(19):2511\u201320.","journal-title":"Vis Res"},{"issue":"2","key":"560_CR36","first-page":"332","volume":"43","author":"SM Saw","year":"2002","unstructured":"Saw SM, Chua WH, Hong CY, Wu HM, Chan WY, Chia KS, et al. Nearwork in early-onset myopia. Invest Ophthalmol Vis Sci. 2002;43(2):332\u20139.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"8","key":"560_CR37","doi-asserted-by":"publisher","first-page":"e1005432","DOI":"10.1371\/journal.pgen.1005432","volume":"11","author":"AV Tkatchenko","year":"2015","unstructured":"Tkatchenko AV, Tkatchenko TV, Guggenheim JA, Verhoeven VJ, Hysi PG, Wojciechowski R, et al. APLP2 regulates refractive error and myopia development in mice and humans. PLoS Genet. 2015;11(8):e1005432.","journal-title":"PLoS Genet"},{"issue":"9","key":"560_CR38","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1016\/0042-6989(94)00230-J","volume":"35","author":"D Troilo","year":"1995","unstructured":"Troilo D, Li T, Glasser A, Howland HC. Differences in eye growth and the response to visual deprivation in different strains of chicken. Vis Res. 1995;35(9):1211\u20136.","journal-title":"Vis Res"},{"issue":"12","key":"560_CR39","doi-asserted-by":"publisher","first-page":"4681","DOI":"10.1073\/pnas.0600589103","volume":"103","author":"AV Tkatchenko","year":"2006","unstructured":"Tkatchenko AV, Walsh PA, Tkatchenko TV, Gustincich S, Raviola E. Form deprivation modulates retinal neurogenesis in primate experimental myopia. Proc Natl Acad Sci U S A. 2006;103(12):4681\u20136.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"560_CR40","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1097\/00006324-200402000-00008","volume":"81","author":"F Schaeffel","year":"2004","unstructured":"Schaeffel F, Burkhardt E, Howland HC, Williams RW. Measurement of refractive state and deprivation myopia in two strains of mice. Optom Vis Sci. 2004;81(2):99\u2013110.","journal-title":"Optom Vis Sci"},{"issue":"7","key":"560_CR41","doi-asserted-by":"publisher","first-page":"4003","DOI":"10.1167\/iovs.10-7044","volume":"52","author":"YP Chen","year":"2011","unstructured":"Chen YP, Hocking PM, Wang L, Povazay B, Prashar A, To CH, et al. Selective breeding for susceptibility to myopia reveals a gene-environment interaction. Invest Ophthalmol Vis Sci. 2011;52(7):4003\u201311.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"6","key":"560_CR42","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1097\/00006324-199906000-00021","volume":"76","author":"G Zhou","year":"1999","unstructured":"Zhou G, Williams RW. Mouse models for the analysis of myopia: an analysis of variation in eye size of adult mice. Optom Vis Sci. 1999;76(6):408\u201318.","journal-title":"Optom Vis Sci"},{"issue":"8","key":"560_CR43","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1007\/s00335-006-0019-5","volume":"17","author":"O Puk","year":"2006","unstructured":"Puk O, Dalke C, Favor J, de Angelis MH, Graw J. Variations of eye size parameters among different strains of mice. Mamm Genome. 2006;17(8):851\u20137.","journal-title":"Mamm Genome"},{"issue":"5","key":"560_CR44","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1111\/j.1601-183X.2005.00173.x","volume":"5","author":"AA Wong","year":"2006","unstructured":"Wong AA, Brown RE. Visual detection, pattern discrimination and visual acuity in 14 strains of mice. Genes Brain Behav. 2006;5(5):389\u2013403.","journal-title":"Genes Brain Behav"},{"issue":"9","key":"560_CR45","doi-asserted-by":"publisher","first-page":"4002","DOI":"10.1167\/iovs.06-1388","volume":"48","author":"JA Peet","year":"2007","unstructured":"Peet JA, Cotch MF, Wojciechowski R, Bailey-Wilson JE, Stambolian D. Heritability and familial aggregation of refractive error in the old order Amish. Invest Ophthalmol Vis Sci. 2007;48(9):4002\u20136.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"12","key":"560_CR46","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1136\/bjo.85.12.1470","volume":"85","author":"N Lyhne","year":"2001","unstructured":"Lyhne N, Sjolie AK, Kyvik KO, Green A. The importance of genes and environment for ocular refraction and its determiners: a population based study among 20-45 year old twins. Br J Ophthalmol. 2001;85(12):1470\u20136.","journal-title":"Br J Ophthalmol"},{"issue":"6","key":"560_CR47","first-page":"1232","volume":"42","author":"CJ Hammond","year":"2001","unstructured":"Hammond CJ, Snieder H, Gilbert CE, Spector TD. Genes and environment in refractive error: the twin eye study. Invest Ophthalmol Vis Sci. 2001;42(6):1232\u20136.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"3","key":"560_CR48","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1002\/gepi.1370050304","volume":"5","author":"JM Teikari","year":"1988","unstructured":"Teikari JM, Kaprio J, Koskenvuo MK, Vannas A. Heritability estimate for refractive errors--a population-based sample of adult twins. Genet Epidemiol. 1988;5(3):171\u201381.","journal-title":"Genet Epidemiol"},{"issue":"11","key":"560_CR49","doi-asserted-by":"publisher","first-page":"4756","DOI":"10.1167\/iovs.06-0270","volume":"47","author":"M Dirani","year":"2006","unstructured":"Dirani M, Chamberlain M, Shekar SN, Islam AF, Garoufalis P, Chen CY, et al. Heritability of refractive error and ocular biometrics: the genes in myopia (GEM) twin study. Invest Ophthalmol Vis Sci. 2006;47(11):4756\u201361.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"560_CR50","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1167\/iovs.08-2385","volume":"50","author":"MC Lopes","year":"2009","unstructured":"Lopes MC, Andrew T, Carbonaro F, Spector TD, Hammond CJ. Estimating heritability and shared environmental effects for refractive error in twin and family studies. Invest Ophthalmol Vis Sci. 2009;50(1):126\u201331.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"3","key":"560_CR51","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1038\/ng.2554","volume":"45","author":"VJ Verhoeven","year":"2013","unstructured":"Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Hohn R, et al. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. 2013;45(3):314\u20138.","journal-title":"Nat Genet"},{"issue":"2","key":"560_CR52","doi-asserted-by":"publisher","first-page":"e1003299","DOI":"10.1371\/journal.pgen.1003299","volume":"9","author":"AK Kiefer","year":"2013","unstructured":"Kiefer AK, Tung JY, Do CB, Hinds DA, Mountain JL, Francke U, et al. Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. PLoS Genet. 2013;9(2):e1003299.","journal-title":"PLoS Genet"},{"issue":"1","key":"560_CR53","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1167\/iovs.17-22173","volume":"59","author":"DI Flitcroft","year":"2018","unstructured":"Flitcroft DI, Loughman J, Wildsoet CF, Williams C, Guggenheim JA, for the CC. Novel myopia genes and pathways identified from syndromic forms of myopia. Invest Ophthalmol Vis Sci. 2018;59(1):338\u201348.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"6","key":"560_CR54","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1038\/s41588-018-0127-7","volume":"50","author":"MS Tedja","year":"2018","unstructured":"Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, et al. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nat Genet. 2018;50(6):834\u201348.","journal-title":"Nat Genet"},{"issue":"8","key":"560_CR55","doi-asserted-by":"publisher","first-page":"3430","DOI":"10.1167\/iovs.06-1538","volume":"48","author":"AM McGlinn","year":"2007","unstructured":"McGlinn AM, Baldwin DA, Tobias JW, Budak MT, Khurana TS, Stone RA. Form-deprivation myopia in chick induces limited changes in retinal gene expression. Invest Ophthalmol Vis Sci. 2007;48(8):3430\u20136.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"560_CR56","first-page":"920","volume":"13","author":"C Brand","year":"2007","unstructured":"Brand C, Schaeffel F, Feldkaemper MP. A microarray analysis of retinal transcripts that are controlled by image contrast in mice. Mol Vis. 2007;13:920\u201332.","journal-title":"Mol Vis"},{"key":"560_CR57","first-page":"1465","volume":"14","author":"L Shelton","year":"2008","unstructured":"Shelton L, Troilo D, Lerner MR, Gusev Y, Brackett DJ, Rada JS. Microarray analysis of choroid\/RPE gene expression in marmoset eyes undergoing changes in ocular growth and refraction. Mol Vis. 2008;14:1465\u201379.","journal-title":"Mol Vis"},{"key":"560_CR58","first-page":"1589","volume":"14","author":"R Schippert","year":"2008","unstructured":"Schippert R, Schaeffel F, Feldkaemper MP. Microarray analysis of retinal gene expression in chicks during imposed myopic defocus. Mol Vis. 2008;14:1589\u201399.","journal-title":"Mol Vis"},{"issue":"1","key":"560_CR59","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1167\/iovs.11-8354","volume":"53","author":"MR Frost","year":"2012","unstructured":"Frost MR, Norton TT. Alterations in protein expression in tree shrew sclera during development of lens-induced myopia and recovery. Invest Ophthalmol Vis Sci. 2012;53(1):322\u201336.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"560_CR60","first-page":"903","volume":"17","author":"H Gao","year":"2011","unstructured":"Gao H, Frost MR, Siegwart JT Jr, Norton TT. Patterns of mRNA and protein expression during minus-lens compensation and recovery in tree shrew sclera. Mol Vis. 2011;17:903\u201319.","journal-title":"Mol Vis"},{"issue":"7","key":"560_CR61","first-page":"2067","volume":"43","author":"JT Siegwart Jr","year":"2002","unstructured":"Siegwart JT Jr, Norton TT. The time course of changes in mRNA levels in tree shrew sclera during induced myopia and recovery. Invest Ophthalmol Vis Sci. 2002;43(7):2067\u201375.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"560_CR62","doi-asserted-by":"publisher","first-page":"390","DOI":"10.3389\/fnagi.2018.00390","volume":"10","author":"N Riddell","year":"2016","unstructured":"Riddell N, Giummarra L, Hall NE, Crewther SG. Bidirectional expression of metabolic, structural, and immune pathways in early myopia and hyperopia. Front Neurosci. 2016;10:390.","journal-title":"Front Neurosci"},{"issue":"1","key":"560_CR63","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1167\/iovs.16-20618","volume":"58","author":"N Riddell","year":"2017","unstructured":"Riddell N, Crewther SG. Integrated comparison of GWAS, transcriptome, and proteomics studies highlights similarities in the biological basis of animal and human myopia. Invest Ophthalmol Vis Sci. 2017;58(1):660\u20139.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"560_CR64","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1167\/iovs.08-2767","volume":"51","author":"TV Tkatchenko","year":"2010","unstructured":"Tkatchenko TV, Shen Y, Tkatchenko AV. Analysis of postnatal eye development in the mouse with high-resolution small animal magnetic resonance imaging. Invest Ophthalmol Vis Sci. 2010;51(1):21\u20137.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"560_CR65","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.jneumeth.2010.07.036","volume":"193","author":"TV Tkatchenko","year":"2010","unstructured":"Tkatchenko TV, Tkatchenko AV. Ketamine-xylazine anesthesia causes hyperopic refractive shift in mice. J Neurosci Methods. 2010;193(1):67\u201371.","journal-title":"J Neurosci Methods"},{"issue":"3","key":"560_CR66","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1167\/iovs.09-4153","volume":"51","author":"TV Tkatchenko","year":"2010","unstructured":"Tkatchenko TV, Shen Y, Tkatchenko AV. Mouse experimental myopia has features of primate myopia. Invest Ophthalmol Vis Sci. 2010;51(3):1297\u2013303.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"560_CR67","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.exer.2013.06.025","volume":"115C","author":"TV Tkatchenko","year":"2013","unstructured":"Tkatchenko TV, Shen Y, Braun RD, Bawa G, Kumar P, Avrutsky I, et al. Photopic visual input is necessary for emmetropization in mice. Exp Eye Res. 2013;115C:87\u201395.","journal-title":"Exp Eye Res"},{"issue":"16","key":"560_CR68","doi-asserted-by":"publisher","first-page":"9440","DOI":"10.1073\/pnas.1530509100","volume":"100","author":"JD Storey","year":"2003","unstructured":"Storey JD, Tibshirani R. Statistical significance for genomewide studies. Proc Natl Acad Sci U S A. 2003;100(16):9440\u20135.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"560_CR69","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1038\/nprot.2008.211","volume":"4","author":"W Huang da","year":"2009","unstructured":"Huang da W, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009;4(1):44\u201357.","journal-title":"Nat Protoc"},{"issue":"17","key":"560_CR70","doi-asserted-by":"publisher","first-page":"2912","DOI":"10.1093\/bioinformatics\/btv300","volume":"31","author":"W Walter","year":"2015","unstructured":"Walter W, Sanchez-Cabo F, Ricote M. GOplot: an R package for visually combining expression data with functional analysis. Bioinformatics. 2015;31(17):2912\u20134.","journal-title":"Bioinformatics."},{"issue":"D1","key":"560_CR71","doi-asserted-by":"publisher","first-page":"D1005","DOI":"10.1093\/nar\/gky1120","volume":"47","author":"A Buniello","year":"2019","unstructured":"Buniello A, MacArthur JAL, Cerezo M, Harris LW, Hayhurst J, Malangone C, et al. The NHGRI-EBI GWAS catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 2019;47(D1):D1005\u2013D12.","journal-title":"Nucleic Acids Res"},{"issue":"11\u201312","key":"560_CR72","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1007\/s00439-018-1942-8","volume":"137","author":"RL Shah","year":"2018","unstructured":"Shah RL, Guggenheim JA, Eye UKB, Vision C. Genome-wide association studies for corneal and refractive astigmatism in UK biobank demonstrate a shared role for myopia susceptibility loci. Hum Genet. 2018;137(11\u201312):881\u201396.","journal-title":"Hum Genet"},{"issue":"4","key":"560_CR73","doi-asserted-by":"publisher","first-page":"e1004219","DOI":"10.1371\/journal.pcbi.1004219","volume":"11","author":"CA de Leeuw","year":"2015","unstructured":"de Leeuw CA, Mooij JM, Heskes T, Posthuma D. MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput Biol. 2015;11(4):e1004219.","journal-title":"PLoS Comput Biol"},{"issue":"11","key":"560_CR74","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1038\/ng1104-1133","volume":"36","author":"GA Churchill","year":"2004","unstructured":"Churchill GA, Airey DC, Allayee H, Angel JM, Attie AD, Beatty J, et al. The collaborative cross, a community resource for the genetic analysis of complex traits. Nat Genet. 2004;36(11):1133\u20137.","journal-title":"Nat Genet"},{"issue":"3","key":"560_CR75","doi-asserted-by":"publisher","first-page":"M89","DOI":"10.1167\/iovs.18-25965","volume":"60","author":"MS Tedja","year":"2019","unstructured":"Tedja MS, Haarman AEG, Meester-Smoor MA, Kaprio J, Mackey DA, Guggenheim JA, et al. IMI - myopia genetics report. Invest Ophthalmol Vis Sci. 2019;60(3):M89\u2013M105.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"10","key":"560_CR76","doi-asserted-by":"publisher","first-page":"e2006021","DOI":"10.1371\/journal.pbio.2006021","volume":"16","author":"TV Tkatchenko","year":"2018","unstructured":"Tkatchenko TV, Troilo D, Benavente-Perez A, Tkatchenko AV. Gene expression in response to optical defocus of opposite signs reveals bidirectional mechanism of visually guided eye growth. PLoS Biol. 2018;16(10):e2006021.","journal-title":"PLoS Biol"},{"issue":"1","key":"560_CR77","doi-asserted-by":"publisher","first-page":"9719","DOI":"10.1038\/s41598-017-10277-2","volume":"7","author":"N Riddell","year":"2017","unstructured":"Riddell N, Crewther SG. Novel evidence for complement system activation in chick myopia and hyperopia models: a meta-analysis of transcriptome datasets. Sci Rep. 2017;7(1):9719.","journal-title":"Sci Rep"},{"issue":"8","key":"560_CR78","doi-asserted-by":"publisher","first-page":"5765","DOI":"10.1167\/iovs.10-6727","volume":"52","author":"RA Stone","year":"2011","unstructured":"Stone RA, McGlinn AM, Baldwin DA, Tobias JW, Iuvone PM, Khurana TS. Image defocus and altered retinal gene expression in chick: clues to the pathogenesis of ametropia. Invest Ophthalmol Vis Sci. 2011;52(8):5765\u201377.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"560_CR79","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.visres.2012.07.003","volume":"75","author":"CC Ronquillo","year":"2012","unstructured":"Ronquillo CC, Bernstein PS, Baehr W. Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vis Res. 2012;75:88\u201397.","journal-title":"Vis Res"},{"issue":"20","key":"560_CR80","doi-asserted-by":"publisher","first-page":"13067","DOI":"10.1073\/pnas.202491599","volume":"99","author":"LY Marmorstein","year":"2002","unstructured":"Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, et al. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc Natl Acad Sci U S A. 2002;99(20):13067\u201372.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"560_CR81","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.ajhg.2012.01.018","volume":"90","author":"K Tuschl","year":"2012","unstructured":"Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet. 2012;90(3):457\u201366.","journal-title":"Am J Hum Genet"},{"issue":"42","key":"560_CR82","doi-asserted-by":"publisher","first-page":"14079","DOI":"10.1523\/JNEUROSCI.2329-14.2014","volume":"34","author":"D Leyva-Illades","year":"2014","unstructured":"Leyva-Illades D, Chen P, Zogzas CE, Hutchens S, Mercado JM, Swaim CD, et al. SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. J Neurosci. 2014;34(42):14079\u201395.","journal-title":"J Neurosci"},{"issue":"5","key":"560_CR83","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1016\/j.cell.2015.05.002","volume":"161","author":"EZ Macosko","year":"2015","unstructured":"Macosko EZ, Basu A, Satija R, Nemesh J, Shekhar K, Goldman M, et al. Highly parallel genome-wide expression profiling of individual cells using Nanoliter droplets. Cell. 2015;161(5):1202\u201314.","journal-title":"Cell."},{"issue":"1","key":"560_CR84","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1002\/jnr.24329","volume":"97","author":"S Papal","year":"2019","unstructured":"Papal S, Monti CE, Tennison ME, Swaroop A. Molecular dissection of cone photoreceptor-enriched genes encoding transmembrane and secretory proteins. J Neurosci Res. 2019;97(1):16\u201328.","journal-title":"J Neurosci Res"},{"issue":"2","key":"560_CR85","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1016\/j.ydbio.2011.04.028","volume":"355","author":"JT Paridaen","year":"2011","unstructured":"Paridaen JT, Janson E, Utami KH, Pereboom TC, Essers PB, van Rooijen C, et al. The nucleolar GTP-binding proteins Gnl2 and nucleostemin are required for retinal neurogenesis in developing zebrafish. Dev Biol. 2011;355(2):286\u2013301.","journal-title":"Dev Biol"},{"key":"560_CR86","doi-asserted-by":"publisher","first-page":"258","DOI":"10.3389\/fnagi.2017.00258","volume":"9","author":"R MacDonald","year":"2017","unstructured":"MacDonald R, Barbat-Artigas S, Cho C, Peng H, Shang J, Moustaine A, et al. A novel Egr-1-Agrin pathway and potential implications for regulation of synaptic physiology and homeostasis at the neuromuscular junction. Front Aging Neurosci. 2017;9:258.","journal-title":"Front Aging Neurosci"},{"issue":"1","key":"560_CR87","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1006\/mcne.1996.0039","volume":"8","author":"S Mann","year":"1996","unstructured":"Mann S, Kroger S. Agrin is synthesized by retinal cells and colocalizes with gephyrin [corrected]. Mol Cell Neurosci. 1996;8(1):1\u201313.","journal-title":"Mol Cell Neurosci"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-019-0560-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12920-019-0560-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-019-0560-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,21]],"date-time":"2024-07-21T09:52:32Z","timestamp":1721555552000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-019-0560-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,30]]},"references-count":87,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["560"],"URL":"https:\/\/doi.org\/10.1186\/s12920-019-0560-1","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/530766","asserted-by":"object"}]},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,30]]},"assertion":[{"value":"14 May 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 July 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Mice were obtained from the Jackson Laboratory (Bar Harbor, ME) and were maintained as an in-house breeding colony. All procedures adhered to the Association for Research in Vision and Ophthalmology (ARVO) statement on the use of animals in ophthalmic and vision research and were approved by the Columbia University Institutional Animal Care and Use Committee. Animals were anesthetized via intraperitoneal injection of ketamine (90\u2009mg\/kg) and xylazine (10\u2009mg\/kg) and were euthanized using CO<sub>2<\/sub> followed by cervical dislocation.All human studies were approved by the relevant institutional review boards and\/or medical ethics committees and conducted according to the Declaration of Helsinki. All CREAM participants provided written informed consent. The UK Biobank received ethical approval from the National Health Service National Research Ethics Service (reference 11\/NW\/0382).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"AVT is a named inventor on two US patent applications related to the development of a pharmacogenomics pipeline for anti-myopia drug development. The remaining authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"113"}}