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Page 1
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: sergouniotis pi. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.
From genetic variation to precision medicine.
Sergouniotis PI, Fitzgerald T, Birney E. Sergouniotis PI, et al. Camb Prism Precis Med. 2023 Jan 24;1:e7. doi: 10.1017/pcm.2022.11. eCollection 2023. Camb Prism Precis Med. 2023. PMID: 38550939 Free PMC article.
Periodontitis and Outer Retinal Thickness: a Cross-Sectional Analysis of the United Kingdom Biobank Cohort.
Wagner SK, Patel PJ, Huemer J, Khalid H, Stuart KV, Chu CJ, Williamson DJ, Struyven RR, Romero-Bascones D, Foster PJ, Khawaja AP, Petzold A, Balaskas K, Cortina-Borja M, Chapple I, Dietrich T, Rahi JS, Denniston AK, Keane PA; UK Biobank Eye & Vision Consortium. Wagner SK, et al. Ophthalmol Sci. 2024 Jan 20;4(4):100472. doi: 10.1016/j.xops.2024.100472. eCollection 2024 Jul-Aug. Ophthalmol Sci. 2024. PMID: 38560277 Free PMC article.
A foundation model for generalizable disease detection from retinal images.
Zhou Y, Chia MA, Wagner SK, Ayhan MS, Williamson DJ, Struyven RR, Liu T, Xu M, Lozano MG, Woodward-Court P, Kihara Y; UK Biobank Eye & Vision Consortium; Altmann A, Lee AY, Topol EJ, Denniston AK, Alexander DC, Keane PA. Zhou Y, et al. Nature. 2023 Oct;622(7981):156-163. doi: 10.1038/s41586-023-06555-x. Epub 2023 Sep 13. Nature. 2023. PMID: 37704728 Free PMC article.
Reply.
Linton E, Jalil A, Sergouniotis P, Moussa G, Black G, Charles S, Ivanova T. Linton E, et al. Retina. 2023 Sep 1;43(9):e53. doi: 10.1097/IAE.0000000000003830. Retina. 2023. PMID: 37155940 No abstract available.
Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.
Sekimitsu S, Xiang D, Smith SL, Curran K, Elze T, Friedman DS, Foster PJ, Luo Y, Pasquale LR, Peto T, Segrè AV, Shweikh Y, Warwick A, Zhao Y, Wiggs JL, Zebardast N; UK Biobank Eye and Vision Consortium. Sekimitsu S, et al. JAMA Ophthalmol. 2023 Sep 1;141(9):891-899. doi: 10.1001/jamaophthalmol.2023.3645. JAMA Ophthalmol. 2023. PMID: 37589995 Free PMC article.
108 results