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Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.
Calzetti G, Schwarzwälder K, Ottonelli G, Kaminska K, Strauss RW, Baere E, Leroy BP, Audo I, Zeitz C, Cursiefen C, Stingl K, Boon CJF, Marques JP, Santos C, Ayuso Garcia C, Escher P, Cordeiro MF, D'Esposito F, Charbel Issa P, Lotery A, Lin S, Michaelides M, Rivolta C, Scholl HPN. Calzetti G, et al. Among authors: lotery a. Ophthalmic Res. 2024;67(1):448-457. doi: 10.1159/000540607. Epub 2024 Jul 30. Ophthalmic Res. 2024. PMID: 39079514 Free article.
Cohort profile: design and methods in the eye and vision consortium of UK Biobank.
Chua SYL, Thomas D, Allen N, Lotery A, Desai P, Patel P, Muthy Z, Sudlow C, Peto T, Khaw PT, Foster PJ; UK Biobank Eye & Vision Consortium. Chua SYL, et al. Among authors: lotery a. BMJ Open. 2019 Feb 21;9(2):e025077. doi: 10.1136/bmjopen-2018-025077. BMJ Open. 2019. PMID: 30796124 Free PMC article.
The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.
Parmeggiani F, Weber M, Bremond-Gignac D, Daly A, Denee T, Lahaye M, Lotery A, Paudel N, Ritter M, Rodríguez de la Rúa E, Rotenstreich Y, Sankila EM, Stingl K, Van Denderen J, Pungor K. Parmeggiani F, et al. Among authors: lotery a. Eye (Lond). 2025 Jan 7. doi: 10.1038/s41433-024-03546-8. Online ahead of print. Eye (Lond). 2025. PMID: 39774292
Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology.
Rajesh AE, Olvera-Barrios A, Warwick AN, Wu Y, Stuart KV, Biradar MI, Ung CY, Khawaja AP, Luben R, Foster PJ, Cleland CR, Makupa WU, Denniston AK, Burton MJ, Bastawrous A, Keane PA, Chia MA, Turner AW, Lee CS, Tufail A, Lee AY, Egan C; UK Biobank Eye and Vision Consortium. Rajesh AE, et al. Nat Commun. 2025 Jan 2;16(1):60. doi: 10.1038/s41467-024-55198-7. Nat Commun. 2025. PMID: 39746957 Free PMC article.
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Gorman BR, Voloudakis G, Igo RP Jr, Kinzy T, Halladay CW, Bigdeli TB, Zeng B, Venkatesh S, Cooke Bailey JN, Crawford DC, Markianos K, Dong F, Schreiner PA, Zhang W; VA Million Veteran Program; International AMD Genomics Consortium (IAMDGC); Hadi T, Anger MD, Stockwell A, Melles RB, Yin J, Choquet H, Kaye R, Patasova K, Patel PJ, Yaspan BL, Jorgenson E, Hysi PG, Lotery AJ, Gaziano JM, Tsao PS, Fliesler SJ, Sullivan JM, Greenberg PB, Wu WC, Assimes TL, Pyarajan S, Roussos P, Peachey NS, Iyengar SK. Gorman BR, et al. Among authors: lotery aj. Nat Genet. 2024 Dec;56(12):2659-2671. doi: 10.1038/s41588-024-01764-0. Epub 2024 Dec 2. Nat Genet. 2024. PMID: 39623103
Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.
Diaz-Torres S, He W, Yu R; IGGC International Glaucoma Genetics Consortium; Khawaja AP, Hammond CJ, Hysi PG, Pasquale LR, Wu Y, Kubo M, Akiyama M, Aung T, Cheng CY, Khor CC, Kraft P, Kang JH, Hewitt AW, Mackey DA, Craig JE, Wiggs JL, Ong JS, MacGregor S, Gharahkhani P. Diaz-Torres S, et al. Nat Commun. 2024 Nov 17;15(1):9959. doi: 10.1038/s41467-024-54301-2. Nat Commun. 2024. PMID: 39551815 Free PMC article.
460 results