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Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: duncan jl. Res Sq [Preprint]. 2024 Feb 9:rs.3.rs-3871956. doi: 10.21203/rs.3.rs-3871956/v1. Res Sq. 2024. PMID: 38405922 Free PMC article. Preprint.
Retinal Disorders.
Sahel JA, Banin E, Bennett J, Duncan JL, Roska B. Sahel JA, et al. Among authors: duncan jl. Cold Spring Harb Perspect Med. 2024 Apr 2:a041728. doi: 10.1101/cshperspect.a041728. Online ahead of print. Cold Spring Harb Perspect Med. 2024. PMID: 38565268
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: duncan jl. Brain. 2024 May 13:awae055. doi: 10.1093/brain/awae055. Online ahead of print. Brain. 2024. PMID: 38735647
Reactive Amine Functionalized Microelectrode Arrays Provide Short-Term Benefit but Long-Term Detriment to In Vivo Recording Performance.
Sturgill BS, Hernandez-Reynoso AG, Druschel LN, Smith TJ, Boucher PE, Hoeferlin GF, Thai TTD, Jiang MS, Hess JL, Alam NN, Menendez DM, Duncan JL, Cogan SF, Pancrazio JJ, Capadona JR. Sturgill BS, et al. Among authors: duncan jl. ACS Appl Bio Mater. 2024 Feb 19;7(2):1052-1063. doi: 10.1021/acsabm.3c01014. Epub 2024 Jan 30. ACS Appl Bio Mater. 2024. PMID: 38290529 Free PMC article.
Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group. Heon E, et al. Among authors: duncan jl. Am J Ophthalmol. 2024 Apr;260:200-211. doi: 10.1016/j.ajo.2023.12.009. Epub 2023 Dec 21. Am J Ophthalmol. 2024. PMID: 38135239
358 results