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

Year Number of Results
1993 2
2000 1
2002 3
2003 2
2004 2
2005 2
2007 4
2008 7
2009 9
2010 13
2011 13
2012 11
2013 16
2014 15
2015 15
2016 17
2017 18
2018 5
2019 6
2020 11
2021 35
2022 23
2023 12

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202 results

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: yu wai man p. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Chinnery PF. Yu-Wai-Man P, et al. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301353 Free Books & Documents. Review.
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P. Carelli V, et al. Among authors: yu wai man p. Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. Handb Clin Neurol. 2023. PMID: 36813316 Review.
Leber hereditary optic neuropathy-new insights and old challenges.
Sundaramurthy S, SelvaKumar A, Ching J, Dharani V, Sarangapani S, Yu-Wai-Man P. Sundaramurthy S, et al. Among authors: yu wai man p. Graefes Arch Clin Exp Ophthalmol. 2021 Sep;259(9):2461-2472. doi: 10.1007/s00417-020-04993-1. Epub 2020 Nov 13. Graefes Arch Clin Exp Ophthalmol. 2021. PMID: 33185731 Review.
A digital mask to safeguard patient privacy.
Yang Y, Lyu J, Wang R, Wen Q, Zhao L, Chen W, Bi S, Meng J, Mao K, Xiao Y, Liang Y, Zeng D, Du Z, Wu Y, Cui T, Liu L, Iao WC, Li X, Cheung CY, Zhou J, Hu Y, Wei L, Lai IF, Yu X, Chen J, Wang Z, Mao Z, Ye H, Xiao W, Yang H, Huang D, Lin X, Zheng WS, Wang R, Yu-Wai-Man P, Xu F, Dai Q, Lin H. Yang Y, et al. Among authors: yu wai man p. Nat Med. 2022 Sep;28(9):1883-1892. doi: 10.1038/s41591-022-01966-1. Epub 2022 Sep 15. Nat Med. 2022. PMID: 36109638 Free PMC article.
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ. Chen BS, et al. Among authors: yu wai man p. Curr Neurol Neurosci Rep. 2022 Dec;22(12):881-892. doi: 10.1007/s11910-022-01246-y. Epub 2022 Nov 21. Curr Neurol Neurosci Rep. 2022. PMID: 36414808 Free PMC article. Review.
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Lenaers G, Neutzner A, Le Dantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Kieninger S, Agca C, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B. Lenaers G, et al. Among authors: yu wai man p. Prog Retin Eye Res. 2021 Jul;83:100935. doi: 10.1016/j.preteyeres.2020.100935. Epub 2020 Dec 17. Prog Retin Eye Res. 2021. PMID: 33340656 Free article. Review.
Early detection of visual impairment in young children using a smartphone-based deep learning system.
Chen W, Li R, Yu Q, Xu A, Feng Y, Wang R, Zhao L, Lin Z, Yang Y, Lin D, Wu X, Chen J, Liu Z, Wu Y, Dang K, Qiu K, Wang Z, Zhou Z, Liu D, Wu Q, Li M, Xiang Y, Li X, Lin Z, Zeng D, Huang Y, Mo S, Huang X, Sun S, Hu J, Zhao J, Wei M, Hu S, Chen L, Dai B, Yang H, Huang D, Lin X, Liang L, Ding X, Yang Y, Wu P, Zheng F, Stanojcic N, Li JO, Cheung CY, Long E, Chen C, Zhu Y, Yu-Wai-Man P, Wang R, Zheng WS, Ding X, Lin H. Chen W, et al. Among authors: yu wai man p. Nat Med. 2023 Feb;29(2):493-503. doi: 10.1038/s41591-022-02180-9. Epub 2023 Jan 26. Nat Med. 2023. PMID: 36702948
Spatial Technology Assessment of Green Space Exposure and Myopia.
Yang Y, Chen W, Xu A, Zhao L, Ding X, Li J, Zhu Y, Chen C, Long E, Liu Z, Wang X, Li X, Zhang X, Jiang Z, He H, Wang G, Jin L, Liao H, Yun D, Yu-Wai-Man P, Yan P, Wang R, Li Z, Xie Y, Liu Y, Wang X, Zhang Q, Wang J, Nie D, Zhang S, Ting DSW, Wong TY, He M, Liu Y, Morgan IG, Lin H. Yang Y, et al. Among authors: yu wai man p. Ophthalmology. 2022 Jan;129(1):113-117. doi: 10.1016/j.ophtha.2021.07.031. Epub 2021 Aug 2. Ophthalmology. 2022. PMID: 34352303 Free article. No abstract available.
Blurred Disc Margins.
Britton JOT, Yu-Wai-Man P, Chen BS. Britton JOT, et al. Among authors: yu wai man p. J Neuroophthalmol. 2023 Jun 1;43(2):e63. doi: 10.1097/WNO.0000000000001842. Epub 2023 Apr 19. J Neuroophthalmol. 2023. PMID: 37184970 No abstract available.
202 results