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Page 1
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.
Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Sundaresan P, Simpson DA, Sambare C, Duffy S, Lechner J, Dastane A, Dervan EW, Vallabh N, Chelerkar V, Deshpande M, O'Brien C, McKnight AJ, Willoughby CE. Sundaresan P, et al. Among authors: willoughby ce. Genet Med. 2015 Apr;17(4):279-84. doi: 10.1038/gim.2014.121. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232845 Free article.
An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.
Qassim A, Souzeau E, Siggs OM, Hassall MM, Han X, Griffiths HL, Frost NA, Vallabh NA, Kirwan JF, Menon G, Cree AJ, Galanopoulos A, Agar A, Healey PR, Graham SL, Landers J, Casson RJ, Gharahkhani P, Willoughby CE, Hewitt AW, Lotery AJ, MacGregor S, Craig JE. Qassim A, et al. Among authors: willoughby ce. Ophthalmology. 2020 Jul;127(7):901-907. doi: 10.1016/j.ophtha.2019.12.025. Epub 2020 Jan 7. Ophthalmology. 2020. PMID: 32081492
Replication of the recessive STBMS1 locus but with dominant inheritance.
Rice A, Nsengimana J, Simmons IG, Toomes C, Hoole J, Willoughby CE, Cassidy F, Williams GA, George ND, Sheridan E, Young TL, Hunter TI, Barrett BT, Elliott DB, Bishop DT, Inglehearn CF. Rice A, et al. Among authors: willoughby ce. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3210-7. doi: 10.1167/iovs.07-1631. Epub 2009 Feb 14. Invest Ophthalmol Vis Sci. 2009. PMID: 19218600
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
Burdon KP, Macgregor S, Bykhovskaya Y, Javadiyan S, Li X, Laurie KJ, Muszynska D, Lindsay R, Lechner J, Haritunians T, Henders AK, Dash D, Siscovick D, Anand S, Aldave A, Coster DJ, Szczotka-Flynn L, Mills RA, Iyengar SK, Taylor KD, Phillips T, Montgomery GW, Rotter JI, Hewitt AW, Sharma S, Rabinowitz YS, Willoughby C, Craig JE. Burdon KP, et al. Invest Ophthalmol Vis Sci. 2011 Oct 31;52(11):8514-9. doi: 10.1167/iovs.11-8261. Invest Ophthalmol Vis Sci. 2011. PMID: 22003120 Free PMC article.
148 results