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Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.
Souzeau E, Burdon KP, Dubowsky A, Grist S, Usher B, Fitzgerald JT, Crawford A, Hewitt AW, Goldberg I, Mills RA, Ruddle JB, Landers J, Mackey DA, Craig JE. Souzeau E, et al. Among authors: crawford a. Ophthalmology. 2013 Jun;120(6):1135-43. doi: 10.1016/j.ophtha.2012.11.029. Epub 2013 Feb 28. Ophthalmology. 2013. PMID: 23453510
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, Mills RA, Danoy P, Casson R, Viswanathan AC, Liu JZ, Landers J, Henders AK, Wood J, Souzeau E, Crawford A, Leo P, Wang JJ, Rochtchina E, Nyholt DR, Martin NG, Montgomery GW, Mitchell P, Brown MA, Mackey DA, Craig JE. Burdon KP, et al. Among authors: crawford a. Nat Genet. 2011 Jun;43(6):574-8. doi: 10.1038/ng.824. Epub 2011 May 1. Nat Genet. 2011. PMID: 21532571
Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment.
Souzeau E, Goldberg I, Healey PR, Mills RA, Landers J, Graham SL, Grigg JR, Usher B, Straga T, Crawford A, Casson RJ, Morgan WH, Ruddle JB, Coote MA, White A, Stewart J, Hewitt AW, Mackey DA, Burdon KP, Craig JE. Souzeau E, et al. Among authors: crawford a. Clin Exp Ophthalmol. 2012 Aug;40(6):569-75. doi: 10.1111/j.1442-9071.2011.02742.x. Clin Exp Ophthalmol. 2012. PMID: 22171965
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.
Sharma S, Burdon KP, Chidlow G, Klebe S, Crawford A, Dimasi DP, Dave A, Martin S, Javadiyan S, Wood JP, Casson R, Danoy P, Griggs K, Hewitt AW, Landers J, Mitchell P, Mackey DA, Craig JE. Sharma S, et al. Among authors: crawford a. Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4917-25. doi: 10.1167/iovs.11-9047. Invest Ophthalmol Vis Sci. 2012. PMID: 22714896
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts P, Garland J, Byrne AB, Hardy TSE, Babic M, Feng J, Wang P, Ha T, King-Smith SL, Schreiber AW, Crawford A, Manton N, Moore L, Barnett CP, Scott HS. Arts P, et al. Among authors: crawford a. Am J Med Genet A. 2020 May;182(5):1273-1277. doi: 10.1002/ajmg.a.61541. Epub 2020 Mar 6. Am J Med Genet A. 2020. PMID: 32141698 Free PMC article.
1,465 results