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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 11

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201 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.
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.
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.
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.
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.
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy.
Yu-Wai-Man P, Newman NJ, Carelli V, Moster ML, Biousse V, Sadun AA, Klopstock T, Vignal-Clermont C, Sergott RC, Rudolph G, La Morgia C, Karanjia R, Taiel M, Blouin L, Burguière P, Smits G, Chevalier C, Masonson H, Salermo Y, Katz B, Picaud S, Calkins DJ, Sahel JA. Yu-Wai-Man P, et al. Sci Transl Med. 2020 Dec 9;12(573):eaaz7423. doi: 10.1126/scitranslmed.aaz7423. Sci Transl Med. 2020. PMID: 33298565 Clinical Trial.
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group. Newman NJ, et al. Among authors: yu wai man p. Ophthalmology. 2021 May;128(5):649-660. doi: 10.1016/j.ophtha.2020.12.012. Epub 2021 Jan 12. Ophthalmology. 2021. PMID: 33451738 Free article. Clinical Trial.
NR2F1-Related Neurodevelopmental Disorder.
Schaaf C, Yu-Wai-Man P, Valentin I. Schaaf C, et al. Among authors: yu wai man p. 2022 Dec 8. 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. 2022 Dec 8. 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: 36508512 Free Books & Documents. Review.
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.
Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group. Milea D, et al. Among authors: yu wai man p. N Engl J Med. 2020 Apr 30;382(18):1687-1695. doi: 10.1056/NEJMoa1917130. Epub 2020 Apr 14. N Engl J Med. 2020. PMID: 32286748
201 results