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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Guo DC, et al. Among authors: willoughby ce. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018
Further evidence for heredity of pterygium.
Romano V, Steger B, Kovacova A, Kaye SB, Willoughby CE. Romano V, et al. Among authors: willoughby ce. Ophthalmic Genet. 2016 Dec;37(4):434-436. doi: 10.3109/13816810.2015.1111911. Epub 2016 Mar 2. Ophthalmic Genet. 2016. PMID: 26933759
Corneal endothelial dysfunction in Pearson syndrome.
Kasbekar SA, Gonzalez-Martin JA, Shafiq AE, Chandna A, Willoughby CE. Kasbekar SA, et al. Among authors: willoughby ce. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):55-7. doi: 10.3109/13816810.2011.610862. Epub 2011 Sep 21. Ophthalmic Genet. 2013. PMID: 21936618
Mutational analysis of MIR184 in sporadic keratoconus and myopia.
Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE. Lechner J, et al. Among authors: willoughby ce. Invest Ophthalmol Vis Sci. 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035. Invest Ophthalmol Vis Sci. 2013. PMID: 23833072 Free article.
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: willoughby ce. 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.
152 results