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Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
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; NEIGHBORHOOD consortium; UK Biobank Eye and Vision Consortium; 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. Craig JE, et al. Among authors: zhou t. Nat Genet. 2020 Feb;52(2):160-166. doi: 10.1038/s41588-019-0556-y. Epub 2020 Jan 20. Nat Genet. 2020. PMID: 31959993 Free PMC article.
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, Law MH, Cremin K, Bailey JNC, Loomis SJ, Pasquale LR, Haines JL, Hauser MA, Viswanathan AC, McGuffin P, Topouzis F, Foster PJ, Graham SL, Casson RJ, Chehade M, White AJ, Zhou T, Souzeau E, Landers J, Fitzgerald JT, Klebe S, Ruddle JB, Goldberg I, Healey PR; Wellcome Trust Case Control Consortium 2, NEIGHBORHOOD consortium; Mills RA, Wang JJ, Montgomery GW, Martin NG, RadfordSmith G, Whiteman DC, Brown MA, Wiggs JL, Mackey DA, Mitchell P, MacGregor S, Craig JE. Gharahkhani P, et al. Among authors: zhou t. Nat Genet. 2014 Oct;46(10):1120-1125. doi: 10.1038/ng.3079. Epub 2014 Aug 31. Nat Genet. 2014. PMID: 25173105 Free PMC article.
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.
Awadalla MS, Fingert JH, Roos BE, Chen S, Holmes R, Graham SL, Chehade M, Galanopolous A, Ridge B, Souzeau E, Zhou T, Siggs OM, Hewitt AW, Mackey DA, Burdon KP, Craig JE. Awadalla MS, et al. Among authors: zhou t. Am J Ophthalmol. 2015 Jan;159(1):124-30.e1. doi: 10.1016/j.ajo.2014.09.044. Epub 2014 Oct 2. Am J Ophthalmol. 2015. PMID: 25284765 Free PMC article.
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Höhn R, Khor CC, Cooke Bailey JN, Luo X, Ramdas WD, Vithana E, Koh V, Yazar S, Xu L, Forward H, Kearns LS, Amin N, Iglesias AI, Sim KS, van Leeuwen EM, Demirkan A, van der Lee S, Loon SC, Rivadeneira F, Nag A, Sanfilippo PG, Schillert A, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A; NEIGHBORHOOD Consortium; Zhou T, Burdon KP, Spector TD, Lackner KJ, Saw SM, Vingerling JR, Teo YY, Pasquale LR, Wolfs RC, Lemij HG, Tai ES, Jonas JB, Cheng CY, Aung T, Jansonius NM, Klaver CC, Craig JE, Young TL, Haines JL, MacGregor S, Mackey DA, Pfeiffer N, Wong TY, Wiggs JL, Hewitt AW, van Duijn CM, Hammond CJ. Springelkamp H, et al. Among authors: zhou t. Genet Epidemiol. 2015 Mar;39(3):207-16. doi: 10.1002/gepi.21886. Epub 2015 Jan 28. Genet Epidemiol. 2015. PMID: 25631615 Free PMC article.
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, Awadalla MS, Smith JE, Ruddle JB, Elder JE, Mackey DA, Hewitt AW, Healey PR, Goldberg I, Morgan WH, Landers J, Dubowsky A, Burdon KP, Craig JE. Souzeau E, et al. Among authors: zhou t. JAMA Ophthalmol. 2015 Jul;133(7):826-33. doi: 10.1001/jamaophthalmol.2015.0980. JAMA Ophthalmol. 2015. PMID: 25950505 Free article.
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL. Souma T, et al. Among authors: zhou t. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6. J Clin Invest. 2016. PMID: 27270174 Free PMC article.
Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma.
Ng SK, Burdon KP, Fitzgerald JT, Zhou T, Fogarty R, Souzeau E, Landers J, Mills RA, Casson RJ, Ridge B, Graham SL, Hewitt AW, Mackey DA, Healey PR, Wang JJ, Mitchell P, MacGregor S, Craig JE. Ng SK, et al. Among authors: zhou t. Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3416-21. doi: 10.1167/iovs.16-19401. Invest Ophthalmol Vis Sci. 2016. PMID: 27367510 Free article.
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
Zhou T, Souzeau E, Sharma S, Siggs OM, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, Casson RJ, Landers J, Mills R, Ellis J, Leo P, Brown MA, MacGregor S, Burdon KP, Craig JE. Zhou T, et al. Mol Genet Genomic Med. 2016 Oct 3;4(6):624-633. doi: 10.1002/mgg3.248. eCollection 2016 Nov. Mol Genet Genomic Med. 2016. PMID: 27896285 Free PMC article.
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