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High-efficiency base editing in the retina in primates and human tissues.
Muller A, Sullivan J, Schwarzer W, Wang M, Park-Windhol C, Hasler PW, Janeschitz-Kriegl L, Duman M, Klingler B, Matsell J, Hostettler SM, Galliker P, Hou Y, Balmer P, Virág T, Barrera LA, Young L, Xu Q, Magda DP, Kilin F, Khadka A, Moreau PH, Fellmann L, Azoulay T, Quinodoz M, Karademir D, Leppert J, Fratzl A, Kosche G, Sharma R, Montford J, Cattaneo M, Croyal M, Cronin T, Picelli S, Grison A, Cowan CS, Kusnyerik Á, Anders P, Renner M, Nagy ZZ, Szabó A, Bharti K, Rivolta C, Scholl HPN, Bryson D, Ciaramella G, Roska B, György B. Muller A, et al. Among authors: scholl hpn. Nat Med. 2025 Jan 8. doi: 10.1038/s41591-024-03422-8. Online ahead of print. Nat Med. 2025. PMID: 39779923
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM. Karali M, et al. Among authors: scholl hp. Eur J Hum Genet. 2024 Dec 13. doi: 10.1038/s41431-024-01768-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39672920
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. Nat Genet. 2024 Dec;56(12):2659-2671. doi: 10.1038/s41588-024-01764-0. Epub 2024 Dec 2. Nat Genet. 2024. PMID: 39623103
Retinal "sweet spot" for myopia treatment.
Swiatczak B, Scholl HPN, Schaeffel F. Swiatczak B, et al. Among authors: scholl hpn. Sci Rep. 2024 Nov 5;14(1):26773. doi: 10.1038/s41598-024-78300-x. Sci Rep. 2024. PMID: 39501066 Free PMC article.
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D, Della Volpe Waizel M, Kaminska K, Valmaggia P, Placidi G, Falsini B, Fries FN, Szentmáry N, Rivolta C, Scholl HPN, Calzetti G. Prétot D, et al. Among authors: scholl hpn. Graefes Arch Clin Exp Ophthalmol. 2024 Oct 12. doi: 10.1007/s00417-024-06659-8. Online ahead of print. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 39394491
Metadata-enhanced contrastive learning from retinal optical coherence tomography images.
Holland R, Leingang O, Bogunović H, Riedl S, Fritsche L, Prevost T, Scholl HPN, Schmidt-Erfurth U, Sivaprasad S, Lotery AJ, Rueckert D, Menten MJ; PINNACLE consortium. Holland R, et al. Among authors: scholl hpn. Med Image Anal. 2024 Oct;97:103296. doi: 10.1016/j.media.2024.103296. Epub 2024 Aug 10. Med Image Anal. 2024. PMID: 39154616 Free article.
400 results