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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, Fingert JH, Hewitt AW, Siggs OM, Whisenhunt K, Young TL, Mackey DA, Dubowsky A, Souzeau E. Burdon KP, et al. Among authors: souzeau e. Hum Mutat. 2022 Dec;43(12):2170-2186. doi: 10.1002/humu.24482. Epub 2022 Oct 19. Hum Mutat. 2022. PMID: 36217948 Free PMC article.
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: souzeau e. 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. Clin Exp Ophthalmol. 2012 Aug;40(6):569-75. doi: 10.1111/j.1442-9071.2011.02742.x. Clin Exp Ophthalmol. 2012. PMID: 22171965
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: souzeau e. 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.
93 results