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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
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; Blue Mountains Eye Study—GWAS group; 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; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2); 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. Iglesias AI, et al. Among authors: craig je. Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. Nat Commun. 2018. PMID: 29760442 Free PMC article.
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.
Mackey DA, Healey DL, Fingert JH, Coote MA, Wong TL, Wilkinson CH, McCartney PJ, Rait JL, de Graaf AP, Stone EM, Craig JE. Mackey DA, et al. Among authors: craig je. Arch Ophthalmol. 2003 Aug;121(8):1172-80. doi: 10.1001/archopht.121.8.1172. Arch Ophthalmol. 2003. PMID: 12912696
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: craig je. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
Predictive DNA testing for glaucoma: reality in 2003.
Mackey DA, Craig JE. Mackey DA, et al. Among authors: craig je. Ophthalmol Clin North Am. 2003 Dec;16(4):639-45. doi: 10.1016/s0896-1549(03)00066-x. Ophthalmol Clin North Am. 2003. PMID: 14741004 Review.
Primary infantile glaucoma in an Australian population.
MacKinnon JR, Giubilato A, Elder JE, Craig JE, Mackey DA. MacKinnon JR, et al. Among authors: craig je. Clin Exp Ophthalmol. 2004 Feb;32(1):14-8. doi: 10.1046/j.1442-9071.2004.00750.x. Clin Exp Ophthalmol. 2004. PMID: 14746584
407 results