{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T09:14:12Z","timestamp":1788426852545,"version":"build-2803163510"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2013,4,12]],"date-time":"2013-04-12T00:00:00Z","timestamp":1365724800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1007\/s00439-013-1303-6","type":"journal-article","created":{"date-parts":[[2013,4,11]],"date-time":"2013-04-11T13:09:16Z","timestamp":1365685756000},"page":"913-921","source":"Crossref","is-referenced-by-count":78,"title":["Exome sequencing reveals CCDC111 mutation associated with high myopia"],"prefix":"10.1007","volume":"132","author":[{"given":"Fuxin","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinyu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anquan","family":"Xue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfeng","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianmin","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhonglou","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangtian","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,4,12]]},"reference":[{"key":"1303_CR1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249. doi: 10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"key":"1303_CR2","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nature09327","volume":"467","author":"K Bilguvar","year":"2010","unstructured":"Bilguvar K, Ozturk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tuysuz B, Caglayan AO, Gokben S, Kaymakcalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dincer A, Johnson MH, Bronen RA, Kocer N, Per H, Mane S, Pamir MN, Yalcinkaya C, Kumandas S, Topcu M, Ozmen M, Sestan N, Lifton RP, State MW, Gunel M (2010) Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467:207\u2013210. doi: 10.1038\/nature09327","journal-title":"Nature"},{"key":"1303_CR3","doi-asserted-by":"crossref","first-page":"19096","DOI":"10.1073\/pnas.0910672106","volume":"106","author":"M Choi","year":"2009","unstructured":"Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 106:19096\u201319101. doi: 10.1073\/pnas.0910672106","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1303_CR4","doi-asserted-by":"crossref","first-page":"e1002753","DOI":"10.1371\/journal.pgen.1002753","volume":"8","author":"Q Fan","year":"2012","unstructured":"Fan Q, Barathi VA, Cheng CY, Zhou X, Meguro A, Nakata I, Khor CC, Goh LK, Li YJ, Lim W, Ho CE, Hawthorne F, Zheng Y, Chua D, Inoko H, Yamashiro K, Ohno-Matsui K, Matsuo K, Matsuda F, Vithana E, Seielstad M, Mizuki N, Beuerman RW, Tai ES, Yoshimura N, Aung T, Young TL, Wong TY, Teo YY, Saw SM (2012) Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet 8:e1002753. doi: 10.1371\/journal.pgen.1002753","journal-title":"PLoS Genet"},{"key":"1303_CR5","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1097\/OPX.0b013e3181940719","volume":"86","author":"M He","year":"2009","unstructured":"He M, Zheng Y, Xiang F (2009) Prevalence of myopia in urban and rural children in mainland China. Optom Vis Sci 86:40\u201344. doi: 10.1097\/OPX.0b013e3181940719","journal-title":"Optom Vis Sci"},{"key":"1303_CR6","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/ng.581","volume":"42","author":"A Hoischen","year":"2010","unstructured":"Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA (2010) De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 42:483\u2013485. doi: 10.1038\/ng.581","journal-title":"Nat Genet"},{"key":"1303_CR7","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1755-3768.1988.tb02659.x","volume":"185","author":"A Hosaka","year":"1988","unstructured":"Hosaka A (1988) Population studies\u2014myopia experience in Japan. Acta Ophthalmol Suppl 185:37\u201340","journal-title":"Acta Ophthalmol Suppl"},{"key":"1303_CR8","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1136\/oem.2008.044024","volume":"66","author":"HD Hosgood 3rd","year":"2009","unstructured":"Hosgood HD 3rd, Zhang L, Shen M, Berndt SI, Vermeulen R, Li G, Yin S, Yeager M, Yuenger J, Rothman N, Chanock S, Smith M, Lan Q (2009) Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Occup Environ Med 66:848\u2013853. doi: 10.1136\/oem.2008.044024","journal-title":"Occup Environ Med"},{"key":"1303_CR9","first-page":"312","volume":"39","author":"DN Hu","year":"2003","unstructured":"Hu DN (2003) Cell culture in ophthalmology: culture of specific cell types. Zhonghua Yan Ke Za Zhi 39:312\u2013316","journal-title":"Zhonghua Yan Ke Za Zhi"},{"key":"1303_CR10","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1038\/ng.664","volume":"42","author":"PG Hysi","year":"2010","unstructured":"Hysi PG, Young TL, Mackey DA, Andrew T, Fernandez-Medarde A, Solouki AM, Hewitt AW, Macgregor S, Vingerling JR, Li YJ, Ikram MK, Fai LY, Sham PC, Manyes L, Porteros A, Lopes MC, Carbonaro F, Fahy SJ, Martin NG, van Duijn CM, Spector TD, Rahi JS, Santos E, Klaver CC, Hammond CJ (2010) A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet 42:902\u2013905. doi: 10.1038\/ng.664","journal-title":"Nat Genet"},{"key":"1303_CR11","doi-asserted-by":"crossref","first-page":"3875","DOI":"10.1093\/nar\/gki702","volume":"33","author":"LM Iyer","year":"2005","unstructured":"Iyer LM, Koonin EV, Leipe DD, Aravind L (2005) Origin and evolution of the archaeo-eukaryotic primase superfamily and related palm-domain proteins: structural insights and new members. Nucleic Acids Res 33:3875\u20133896. doi: 10.1093\/nar\/gki702","journal-title":"Nucleic Acids Res"},{"key":"1303_CR12","first-page":"334","volume":"38","author":"J Katz","year":"1997","unstructured":"Katz J, Tielsch JM, Sommer A (1997) Prevalence and risk factors for refractive errors in an adult inner city population. Invest Ophthalmol Vis Sci 38:334\u2013340","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1303_CR13","doi-asserted-by":"crossref","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, Ikram MK, Congdon NG, O\u2019Colmain BJ, Eye Diseases Prevalence Research G (2004) The prevalence of refractive errors among adults in the United States, Western Europe, and Australia. Arch Ophthalmol 122:495\u2013505. doi: 10.1001\/archopht.122.4.495","journal-title":"Arch Ophthalmol"},{"key":"1303_CR14","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131081. doi: 10.1038\/nprot.2009.86","journal-title":"Nat Protoc"},{"key":"1303_CR15","doi-asserted-by":"crossref","first-page":"3768","DOI":"10.1167\/iovs.07-1126","volume":"49","author":"CY Lam","year":"2008","unstructured":"Lam CY, Tam PO, Fan DS, Fan BJ, Wang DY, Lee CW, Pang CP, Lam DS (2008) A genome-wide scan maps a novel high myopia locus to 5p15. Invest Ophthalmol Vis Sci 49:3768\u20133778. doi: iovs.07-1126","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1303_CR16","doi-asserted-by":"crossref","first-page":"2861","DOI":"10.1093\/hmg\/ddr169","volume":"20","author":"Z Li","year":"2011","unstructured":"Li Z, Qu J, Xu X, Zhou X, Zou H, Wang N, Li T, Hu X, Zhao Q, Chen P, Li W, Huang K, Yang J, He Z, Ji J, Wang T, Li J, Li Y, Liu J, Zeng Z, Feng G, He L, Shi Y (2011) A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population. Hum Mol Genet 20:2861\u20132868. doi: 10.1093\/hmg\/ddr169","journal-title":"Hum Mol Genet"},{"key":"1303_CR17","first-page":"2043","volume":"16","author":"JH Ma","year":"2010","unstructured":"Ma JH, Shen SH, Zhang GW, Zhao DS, Xu C, Pan CM, Jiang H, Wang ZQ, Song HD (2010) Identification of a locus for autosomal dominant high myopia on chromosome 5p13.3-p15.1 in a Chinese family. Mol Vis 16:2043\u20132054","journal-title":"Mol Vis"},{"key":"1303_CR18","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1016\/S0140-6736(12)60272-4","volume":"379","author":"IG Morgan","year":"2012","unstructured":"Morgan IG, Ohno-Matsui K, Saw SM (2012) Myopia. Lancet 379:1739\u20131748. doi: 10.1016\/S0140-6736(12)60272-4","journal-title":"Lancet"},{"key":"1303_CR19","doi-asserted-by":"crossref","first-page":"e1000660","DOI":"10.1371\/journal.pgen.1000660","volume":"5","author":"H Nakanishi","year":"2009","unstructured":"Nakanishi H, Yamada R, Gotoh N, Hayashi H, Yamashiro K, Shimada N, Ohno-Matsui K, Mochizuki M, Saito M, Iida T, Matsuo K, Tajima K, Yoshimura N, Matsuda F (2009) A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. PLoS Genet 5:e1000660. doi: 10.1371\/journal.pgen.1000660","journal-title":"PLoS Genet"},{"key":"1303_CR20","first-page":"229","volume":"13","author":"S Nallasamy","year":"2007","unstructured":"Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL (2007) Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis 13:229\u2013236. doi: v13\/a26","journal-title":"Mol Vis"},{"key":"1303_CR21","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature08250","volume":"461","author":"SB Ng","year":"2009","unstructured":"Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272\u2013276. doi: 10.1038\/nature08250","journal-title":"Nature"},{"key":"1303_CR22","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","volume":"42","author":"SB Ng","year":"2010","unstructured":"Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ (2010) Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 42:30\u201335. doi: 10.1038\/ng.499","journal-title":"Nat Genet"},{"key":"1303_CR23","first-page":"2566","volume":"14","author":"S Paget","year":"2008","unstructured":"Paget S, Julia S, Vitezica ZG, Soler V, Malecaze F, Calvas P (2008) Linkage analysis of high myopia susceptibility locus in 26 families. Mol Vis 14:2566\u20132574","journal-title":"Mol Vis"},{"key":"1303_CR24","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1167\/iovs.02-0697","volume":"44","author":"P Paluru","year":"2003","unstructured":"Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL (2003) New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 44:1830\u20131836","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1303_CR25","doi-asserted-by":"crossref","first-page":"2300","DOI":"10.1167\/iovs.04-1423","volume":"46","author":"PC Paluru","year":"2005","unstructured":"Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL (2005) Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci 46:2300\u20132307. doi: 46\/7\/2300","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"363\u2013370","key":"1303_CR26","doi-asserted-by":"crossref","first-page":"e363","DOI":"10.1016\/j.ophtha.2007.03.075","volume":"115","author":"A Sawada","year":"2008","unstructured":"Sawada A, Tomidokoro A, Araie M, Iwase A, Yamamoto T (2008) Refractive errors in an elderly Japanese population: the Tajimi study. Ophthalmology 115(363\u2013370):e363. doi: S0161-6420(07)00379-X","journal-title":"Ophthalmology"},{"key":"1303_CR27","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.1399-0004.1990.tb03582.x","volume":"38","author":"M Schwartz","year":"1990","unstructured":"Schwartz M, Haim M, Skarsholm D (1990) X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. Clin Genet 38:281\u2013286","journal-title":"Clin Genet"},{"key":"1303_CR28","doi-asserted-by":"crossref","unstructured":"Shi Y, Gong B, Chen L, Zuo X, Liu X, Tam PO, Zhou X, Zhao P, Lu F, Qu J, Sun L, Zhao F, Chen H, Zhang Y, Zhang D, Lin Y, Lin H, Ma S, Cheng J, Yang J, Huang L, Zhang M, Zhang X, Pang CP, Yang Z (2013) A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. Hum Mol Genet. doi: 10.1093\/hmg\/ddt066","DOI":"10.1093\/hmg\/ddt066"},{"key":"1303_CR29","doi-asserted-by":"crossref","first-page":"e1002084","DOI":"10.1371\/journal.pgen.1002084","volume":"7","author":"Y Shi","year":"2011","unstructured":"Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z (2011a) Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet 7:e1002084. doi: 10.1371\/journal.pgen.1002084","journal-title":"PLoS Genet"},{"key":"1303_CR30","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.ajhg.2011.04.022","volume":"88","author":"Y Shi","year":"2011","unstructured":"Shi Y, Qu J, Zhang D, Zhao P, Zhang Q, Tam PO, Sun L, Zuo X, Zhou X, Xiao X, Hu J, Li Y, Cai L, Liu X, Lu F, Liao S, Chen B, He F, Gong B, Lin H, Ma S, Cheng J, Zhang J, Chen Y, Zhao F, Yang X, Chen Y, Yang C, Lam DS, Li X, Shi F, Wu Z, Lin Y, Yang J, Li S, Ren Y, Xue A, Fan Y, Li D, Pang CP, Zhang X, Yang Z (2011b) Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. Am J Hum Genet 88:805\u2013813. doi: 10.1016\/j.ajhg.2011.04.022","journal-title":"Am J Hum Genet"},{"key":"1303_CR31","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1038\/ng.663","volume":"42","author":"AM Solouki","year":"2010","unstructured":"Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC (2010) A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet 42:897\u2013901. doi: 10.1038\/ng.663","journal-title":"Nat Genet"},{"key":"1303_CR32","doi-asserted-by":"crossref","unstructured":"Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel L, Cotch MF, Chew E, Klein B, Klein R, Wong T, Simpson CL, Klaver C, van Duijn C, Verhoeven V, Baird P, Vitart V, Paterson A, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Richardson A, Xie J, Wang JJ, Rochtchina E, Group DER, Viswanathan A, Hayward C, Wright A, Polasek O, Campbell H, Rudan I, Oostra B, Uitterlinden A, Hofman A, Rivadeneira F, Amin N, Karssen L, Vingerling J, Hosseini SM, Doring A, Bettecken T, Vatavuk Z, Gieger C, Wichmann HE, Wilson J, Fleck B, Foster P, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday E, Attia J, Scott R, Rotter J, Meitinger T, Bailey-Wilson J (2013) Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Hum Mol Genet. doi: 10.1093\/hmg\/ddt116","DOI":"10.1093\/hmg\/ddt116"},{"issue":"3","key":"1303_CR33","doi-asserted-by":"crossref","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, Macgregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Makela KM, Lehtimaki T, Kahonen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Parssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li R, Liao J, Zheng Y, Ong RT, Doring A, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Jr RP, Lass JH, Chew E, Iyengar SK, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Muller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, The Diabetes C, Complications Trial\/Epidemiology of Diabetes I, Complications Research G, Consortium for Refractive Error and Myopia, Wellcome Trust Case Control C, The Fuchs\u2019 Genetics Multi-Center Study G et al (2013) Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet 45(3):314\u2013318. doi: 10.1038\/ng.2554","journal-title":"Nat Genet"},{"key":"1303_CR34","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.1001\/archophthalmol.2009.303","volume":"127","author":"S Vitale","year":"2009","unstructured":"Vitale S, Sperduto RD, Ferris FL 3rd (2009) Increased prevalence of myopia in the United States between 1971\u20131972 and 1999\u20132004. Arch Ophthalmol 127:1632\u20131639. doi: 10.1001\/archophthalmol.2009.303","journal-title":"Arch Ophthalmol"},{"key":"1303_CR35","doi-asserted-by":"crossref","first-page":"3510","DOI":"10.1093\/brain\/awq323","volume":"133","author":"JL Wang","year":"2010","unstructured":"Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS (2010) TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 133:3510\u20133518. doi: 10.1093\/brain\/awq323","journal-title":"Brain"},{"key":"1303_CR36","first-page":"312","volume":"15","author":"Z Yang","year":"2009","unstructured":"Yang Z, Xiao X, Li S, Zhang Q (2009) Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia. Mol Vis 15:312\u2013318","journal-title":"Mol Vis"},{"key":"1303_CR37","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1086\/302111","volume":"63","author":"TL Young","year":"1998","unstructured":"Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA (1998a) A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet 63:1419\u20131424. doi: 10.1086\/302111","journal-title":"Am J Hum Genet"},{"key":"1303_CR38","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1086\/301907","volume":"63","author":"TL Young","year":"1998","unstructured":"Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA (1998b) Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet 63:109\u2013119. doi: 10.1086\/301907","journal-title":"Am J Hum Genet"},{"key":"1303_CR39","first-page":"554","volume":"11","author":"Q Zhang","year":"2005","unstructured":"Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF (2005) A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis 11:554\u2013560. doi: v11\/a65","journal-title":"Mol Vis"},{"key":"1303_CR40","doi-asserted-by":"crossref","first-page":"e20","DOI":"10.1136\/jmg.2005.037853","volume":"43","author":"Q Zhang","year":"2006","unstructured":"Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF (2006) Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. J Med Genet 43:e20. doi: 10.1136\/jmg.2005.037853","journal-title":"J Med Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-013-1303-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-013-1303-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-013-1303-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T19:41:06Z","timestamp":1715197266000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-013-1303-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,12]]},"references-count":40,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["1303"],"URL":"https:\/\/doi.org\/10.1007\/s00439-013-1303-6","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,12]]}}}