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A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.
Jiang C, Melles RB, Yin J, Fan Q, Guo X, Cheng CY, He M, Mackey DA, Guggenheim JA, Klaver C; Consortium for Refractive Error and Myopia (CREAM); Nair KS, Jorgenson E, Choquet H. Jiang C, et al. Among authors: mackey da. Front Genet. 2023 Jun 7;14:1113058. doi: 10.3389/fgene.2023.1113058. eCollection 2023. Front Genet. 2023. PMID: 37351342 Free PMC article.
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Musolf AM, Haarman AEG, Luben RN, Ong JS, Patasova K, Trapero RH, Marsh J, Jain I, Jain R, Wang PZ, Lewis DD, Tedja MS, Iglesias AI, Li H, Cowan CS; Consortium for Refractive Error and Myopia (CREAM); Biino G, Klein AP, Duggal P, Mackey DA, Hayward C, Haller T, Metspalu A, Wedenoja J, Pärssinen O, Cheng CY, Saw SM, Stambolian D, Hysi PG, Khawaja AP, Vitart V, Hammond CJ, van Duijn CM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE. Musolf AM, et al. Among authors: mackey da. Commun Biol. 2023 Jan 3;6(1):6. doi: 10.1038/s42003-022-04323-7. Commun Biol. 2023. PMID: 36596879 Free PMC article.
Genetic Associations Between Smoking- and Glaucoma-Related Traits.
Tran JH, Stuart KV, de Vries V, Vergroesen JE, Cousins CC, Hysi PG, Do R, Rocheleau G, Kang JH, Wiggs JL, MacGregor S, Khawaja AP, Mackey DA, Klaver CCW, Ramdas WD, Pasquale LR; UK Biobank Eye and Vision Consortium, and for the International Glaucoma Genetics Consortium. Tran JH, et al. Among authors: mackey da. Transl Vis Sci Technol. 2023 Feb 1;12(2):20. doi: 10.1167/tvst.12.2.20. Transl Vis Sci Technol. 2023. PMID: 36786746 Free PMC article.
A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA; CREAM Consortium; UK Biobank Eye and Vision Consortium. Clark R, et al. Among authors: mackey da. EBioMedicine. 2023 May;91:104551. doi: 10.1016/j.ebiom.2023.104551. Epub 2023 Apr 11. EBioMedicine. 2023. PMID: 37055258 Free PMC article.
When 2 Epidemics Collide-COVID-19 and Myopia.
Mackey DA, Lee SSY. Mackey DA, et al. JAMA Ophthalmol. 2023 Apr 1;141(4):340-341. doi: 10.1001/jamaophthalmol.2023.0074. JAMA Ophthalmol. 2023. PMID: 36821103 No abstract available.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: mackey da. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
555 results