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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2002 4
2003 9
2004 5
2005 5
2006 6
2007 7
2008 8
2009 15
2010 17
2011 33
2012 22
2013 29
2014 31
2015 22
2016 34
2017 30
2018 21
2019 15
2020 21
2021 16
2022 8
2023 5
2024 0

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Search Results

311 results

Results by year

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Page 1
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, 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 M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: moore at. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. PMID: 37333224 Free PMC article. Preprint.
IMI-Management and Investigation of High Myopia in Infants and Young Children.
Flitcroft I, Ainsworth J, Chia A, Cotter S, Harb E, Jin ZB, Klaver CCW, Moore AT, Nischal KK, Ohno-Matsui K, Paysse EA, Repka MX, Smirnova IY, Snead M, Verhoeven VJM, Verkicharla PK. Flitcroft I, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2023 May 1;64(6):3. doi: 10.1167/iovs.64.6.3. Invest Ophthalmol Vis Sci. 2023. PMID: 37126360 Free PMC article.
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.
Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, Weleber RG, Michaelides M. Kumaran N, et al. Among authors: moore at. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30285347 Free Books & Documents. Review.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. Daich Varela M, et al. Among authors: moore at. Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. Hum Mol Genet. 2023. PMID: 36084042 Free PMC article.
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
Martin-Gutierrez MP, Schiff ER, Wright G, Waseem N, Mahroo OA, Michaelides M, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Martin-Gutierrez MP, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2022 Aug 2;63(9):14. doi: 10.1167/iovs.63.9.14. Invest Ophthalmol Vis Sci. 2022. PMID: 35947379 Free PMC article.
Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results.
Pennesi ME, Yang P, Birch DG, Weng CY, Moore AT, Iannaccone A, Comander JI, Jayasundera T, Chulay J; XLRS-001 Study Group. Pennesi ME, et al. Among authors: moore at. Ophthalmol Retina. 2022 Dec;6(12):1130-1144. doi: 10.1016/j.oret.2022.06.013. Epub 2022 Jun 30. Ophthalmol Retina. 2022. PMID: 35781068 Clinical Trial.
Variability of retinopathy consequent upon novel mutations in LAMA1.
Schiff ER, Aychoua N, Nutan S, Davagnanam I, Moore AT, Robson AG, Patel CK, Webster AR, Arno G. Schiff ER, et al. Among authors: moore at. Ophthalmic Genet. 2022 Oct;43(5):671-678. doi: 10.1080/13816810.2022.2076283. Epub 2022 May 26. Ophthalmic Genet. 2022. PMID: 35616092
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
Majander A, Jurkute N, Burté F, Brock K, João C, Huang H, Neveu MM, Chan CM, Duncan HJ, Kelly S, Burkitt-Wright E, Khoyratty F, Lai YT, Subash M, Chinnery PF, Bitner-Glindzicz M, Arno G, Webster AR, Moore AT, Michaelides M, Stockman A, Robson AG, Yu-Wai-Man P. Majander A, et al. Among authors: moore at. Am J Ophthalmol. 2022 Sep;241:9-27. doi: 10.1016/j.ajo.2022.04.003. Epub 2022 Apr 22. Am J Ophthalmol. 2022. PMID: 35469785 Free article.
311 results