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Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement.
Farashi S, Abbott CJ, Ansell BR, Wu Z, Altay L, Arnon E, Arnould L, Bagdasarova Y, Balaskas K, Chen FK, Chew E, Chowers I, Clarke S, Cukras C, Delcourt C, Delyfer MN, den Hollander AI, Fauser S, Finger RP, Gabrielle PH, Han J, Hodgson LA, Hogg R, Holz FG, Hoyng C, Kumar H, Lad EM, Lee A, Luhmann UF, Mauschitz MM, McKnight AJ, McLenachan S, Mishra A, Moghul I, Orozco LD, Sampson DM, Scott LW, Sitnilska V, Song S, Stockwell A, Swaroop A, Terheyden JH, Tiosano L, Tufail A, Yaspan BL; MACUSTAR consortium; NICOLA consortium; Pébay A, Fletcher EL, Guymer RH, Bahlo M. Farashi S, et al. Among authors: hoyng c. medRxiv [Preprint]. 2024 Sep 28:2024.09.26.24314339. doi: 10.1101/2024.09.26.24314339. medRxiv. 2024. PMID: 39399049 Free PMC article. Preprint.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Mane… See abstract for full author list ➔ Quinodoz M, et al. Among authors: hoyng cb. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Syndromic Retinitis Pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Among authors: hoyng cb. Prog Retin Eye Res. 2024 Dec 27:101324. doi: 10.1016/j.preteyeres.2024.101324. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 39733931 Free article. Review.
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
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa.
MacLaren RE, Duncan JL, Fischer MD, Lam BL, Meunier I, Pennesi ME, Sankila EK, Gow JA, Li J, Tsang SF; XOLARIS Study Group. MacLaren RE, et al. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb. Ophthalmol Sci. 2024. PMID: 39493534 Free PMC article.
Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.
Maguire MG, Birch DG, Duncan JL, Ayala AR, Ayton LN, Cheetham JK, Cheng P, Durham TA, Ferris FL 3rd, Hoyng CB, Huckfeldt RM, Jaffe GJ, Kay C, Lad EM, Leroy BP, Liang W, McDaniel LS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Samarakoon L; REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group. Maguire MG, et al. Among authors: hoyng cb. Transl Vis Sci Technol. 2024 Oct 1;13(10):15. doi: 10.1167/tvst.13.10.15. Transl Vis Sci Technol. 2024. PMID: 39382872 Free PMC article.
Generalizable Deep Learning for the Detection of Incomplete and Complete Retinal Pigment Epithelium and Outer Retinal Atrophy: A MACUSTAR Report.
de Vente C, Valmaggia P, Hoyng CB, Holz FG, Islam MM, Klaver CCW, Boon CJF, Schmitz-Valckenberg S, Tufail A, Saßmannshausen M, Sánchez CI; MACUSTAR Consortium. de Vente C, et al. Among authors: hoyng cb. Transl Vis Sci Technol. 2024 Sep 3;13(9):11. doi: 10.1167/tvst.13.9.11. Transl Vis Sci Technol. 2024. PMID: 39235402 Free PMC article.
450 results