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A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, Li X, Choquet H, Habeeb M, Lucas SEM, Sahebjada S, Pontikos N, Lopez KER, Khawaja AP, Ali M, Dudakova L, Skalicka P, Van Dooren BTH, Geerards AJM, Haudum CW, Faro VL, Tenen A, Simcoe MJ, Patasova K, Yarrand D, Yin J, Siddiqui S, Rice A, Farraj LA, Chen YI, Rahi JS, Krauss RM, Theusch E, Charlesworth JC, Szczotka-Flynn L, Toomes C, Meester-Smoor MA, Richardson AJ, Mitchell PA, Taylor KD, Melles RB, Aldave AJ, Mills RA, Cao K, Chan E, Daniell MD, Wang JJ, Rotter JI, Hewitt AW, MacGregor S, Klaver CCW, Ramdas WD, Craig JE, Iyengar SK, O'Brart D, Jorgenson E, Baird PN, Rabinowitz YS, Burdon KP, Hammond CJ, Tuft SJ, Hysi PG. Hardcastle AJ, et al. Among authors: simcoe mj. Commun Biol. 2021 Mar 1;4(1):266. doi: 10.1038/s42003-021-01784-0. Commun Biol. 2021. PMID: 33649486 Free PMC article.
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
Khawaja AP, Cooke Bailey JN, Wareham NJ, Scott RA, Simcoe M, Igo RP Jr, Song YE, Wojciechowski R, Cheng CY, Khaw PT, Pasquale LR, Haines JL, Foster PJ, Wiggs JL, Hammond CJ, Hysi PG; UK Biobank Eye and Vision Consortium; NEIGHBORHOOD Consortium. Khawaja AP, et al. Nat Genet. 2018 Jun;50(6):778-782. doi: 10.1038/s41588-018-0126-8. Epub 2018 May 21. Nat Genet. 2018. PMID: 29785010 Free PMC article.
Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.
Bonnemaijer PWM, Iglesias AI, Nadkarni GN, Sanyiwa AJ, Hassan HG, Cook C; GIGA Study Group; Simcoe M, Taylor KD, Schurmann C, Belbin GM, Kenny EE, Bottinger EP, van de Laar S, Wiliams SEI, Akafo SK, Ashaye AO, Zangwill LM, Girkin CA, Ng MCY, Rotter JI, Weinreb RN, Li Z, Allingham RR; Eyes of Africa Genetics Consortium; Nag A, Hysi PG, Meester-Smoor MA, Wiggs JL; NEIGHBORHOOD Consortium; Hauser MA, Hammond CJ, Lemij HG, Loos RJF, van Duijn CM, Thiadens AAHJ, Klaver CCW. Bonnemaijer PWM, et al. Hum Genet. 2018 Oct;137(10):847-862. doi: 10.1007/s00439-018-1943-7. Epub 2018 Oct 13. Hum Genet. 2018. PMID: 30317457 Free PMC article. Clinical Trial.
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
Bonnemaijer PWM, Leeuwen EMV, Iglesias AI, Gharahkhani P, Vitart V, Khawaja AP, Simcoe M, Höhn R, Cree AJ, Igo RP; International Glaucoma Genetics Consortium; NEIGHBORHOOD consortium; UK Biobank Eye and Vision Consortium; Gerhold-Ay A, Nickels S, Wilson JF, Hayward C, Boutin TS, Polašek O, Aung T, Khor CC, Amin N, Lotery AJ, Wiggs JL, Cheng CY, Hysi PG, Hammond CJ, Thiadens AAHJ, MacGregor S, Klaver CCW, Duijn CMV. Bonnemaijer PWM, et al. Commun Biol. 2019 Nov 27;2:435. doi: 10.1038/s42003-019-0634-9. eCollection 2019. Commun Biol. 2019. PMID: 31798171 Free PMC article.
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.
Hysi PG, Choquet H, Khawaja AP, Wojciechowski R, Tedja MS, Yin J, Simcoe MJ, Patasova K, Mahroo OA, Thai KK, Cumberland PM, Melles RB, Verhoeven VJM, Vitart V, Segre A, Stone RA, Wareham N, Hewitt AW, Mackey DA, Klaver CCW, MacGregor S; Consortium for Refractive Error and Myopia; Khaw PT, Foster PJ; UK Eye and Vision Consortium; Guggenheim JA; 23andMe Inc.; Rahi JS, Jorgenson E, Hammond CJ. Hysi PG, et al. Among authors: simcoe mj. Nat Genet. 2020 Apr;52(4):401-407. doi: 10.1038/s41588-020-0599-0. Epub 2020 Mar 30. Nat Genet. 2020. PMID: 32231278 Free PMC article.
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