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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
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.
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Lechner J, et al. Among authors: willoughby ce. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3. Hum Mol Genet. 2014. PMID: 24895405 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: willoughby ce. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.
Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL. Oliver VF, et al. Among authors: willoughby ce. Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16. Ophthalmology. 2016. PMID: 26786512 Free article.
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.
Marginal corneal vascular arcades.
Zheng Y, Kaye AE, Boker A, Stewart RK, Tey A, Ahmad S, Willoughby CE, Bron AJ, Kaye SB. Zheng Y, et al. Among authors: willoughby ce. Invest Ophthalmol Vis Sci. 2013 Nov 15;54(12):7470-7. doi: 10.1167/iovs.13-12614. Invest Ophthalmol Vis Sci. 2013. PMID: 24159088
Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms.
McDowell CM, Kizhatil K, Elliott MH, Overby DR, van Batenburg-Sherwood J, Millar JC, Kuehn MH, Zode G, Acott TS, Anderson MG, Bhattacharya SK, Bertrand JA, Borras T, Bovenkamp DE, Cheng L, Danias J, De Ieso ML, Du Y, Faralli JA, Fuchshofer R, Ganapathy PS, Gong H, Herberg S, Hernandez H, Humphries P, John SWM, Kaufman PL, Keller KE, Kelley MJ, Kelly RA, Krizaj D, Kumar A, Leonard BC, Lieberman RL, Liton P, Liu Y, Liu KC, Lopez NN, Mao W, Mavlyutov T, McDonnell F, McLellan GJ, Mzyk P, Nartey A, Pasquale LR, Patel GC, Pattabiraman PP, Peters DM, Raghunathan V, Rao PV, Rayana N, Raychaudhuri U, Reina-Torres E, Ren R, Rhee D, Chowdhury UR, Samples JR, Samples EG, Sharif N, Schuman JS, Sheffield VC, Stevenson CH, Soundararajan A, Subramanian P, Sugali CK, Sun Y, Toris CB, Torrejon KY, Vahabikashi A, Vranka JA, Wang T, Willoughby CE, Xin C, Yun H, Zhang HF, Fautsch MP, Tamm ER, Clark AF, Ethier CR, Stamer WD. McDowell CM, et al. Among authors: willoughby ce. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):12. doi: 10.1167/iovs.63.2.12. Invest Ophthalmol Vis Sci. 2022. PMID: 35129590 Free PMC article. Review.
142 results