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Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health.
Zekavat SM, Jorshery SD, Rauscher FG, Horn K, Sekimitsu S, Koyama S, Nguyen TT, Costanzo MC, Jang D, Burtt NP, Kühnapfel A, Shweikh Y, Ye Y, Raghu V, Zhao H, Ghassemi M, Elze T, Segrè AV, Wiggs JL, Del Priore L, Scholz M, Wang JC, Natarajan P, Zebardast N. Zekavat SM, et al. Sci Transl Med. 2024 Jan 24;16(731):eadg4517. doi: 10.1126/scitranslmed.adg4517. Epub 2024 Jan 24. Sci Transl Med. 2024. PMID: 38266105
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes ERA, Delfin MS, Fan B, Torregosa JMR, Siguan-Bell C, Florcruz NVG, Martinez JMD, Masna-Hidalgo BJ, Guzman VPT, Anotado-Flores JF, Levina FD, Hernandez SRC, Collantes AA, Sibulo MC, Rong S, Wiggs JL. Collantes ERA, et al. Hum Mutat. 2022 Feb;43(2):240-252. doi: 10.1002/humu.24320. Epub 2021 Dec 28. Hum Mutat. 2022. PMID: 34923728 Free PMC article.
20 results