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

Year Number of Results
1949 1
1968 1
1970 1
1972 1
1974 1
1975 1
1977 1
1980 1
1981 2
1982 2
1983 2
1984 1
1985 1
1986 2
1988 2
1993 1
1994 1
1995 3
1997 1
1998 2
1999 5
2000 3
2001 6
2002 5
2003 6
2004 8
2005 16
2006 13
2007 10
2008 12
2009 13
2010 6
2011 8
2012 12
2013 15
2014 8
2015 12
2016 12
2017 13
2018 11
2019 15
2020 15
2021 17
2022 17
2023 14
2024 21
2025 16

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302 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
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: browning ac. 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.
In defense of J Marion Sims.
Petros P, Abendstein B, Browning A. Petros P, et al. Among authors: browning a. Int Urogynecol J. 2018 Nov;29(11):1563-1564. doi: 10.1007/s00192-018-3708-1. Epub 2018 Jun 27. Int Urogynecol J. 2018. PMID: 29951910 No abstract available.
Towards cascading genetic risk in Alzheimer's disease.
Altmann A, Aksman LM, Oxtoby NP, Young AL; ADNI; Alexander DC, Barkhof F, Shoai M, Hardy J, Schott JM. Altmann A, et al. Brain. 2024 Aug 1;147(8):2680-2690. doi: 10.1093/brain/awae176. Brain. 2024. PMID: 38820112 Free PMC article.
Enhancing cognitive performance prediction by white matter hyperintensity connectivity assessment.
Petersen M, Coenen M, DeCarli C, De Luca A, van der Lelij E; Alzheimer’s Disease Neuroimaging Initiative; Barkhof F, Benke T, Chen CPLH, Dal-Bianco P, Dewenter A, Duering M, Enzinger C, Ewers M, Exalto LG, Fletcher EM, Franzmeier N, Hilal S, Hofer E, Koek HL, Maier AB, Maillard PM, McCreary CR, Papma JM, Pijnenburg YAL, Schmidt R, Smith EE, Steketee RME, van den Berg E, van der Flier WM, Venkatraghavan V, Venketasubramanian N, Vernooij MW, Wolters FJ, Xu X, Horn A, Patil KR, Eickhoff SB, Thomalla G, Biesbroek JM, Biessels GJ, Cheng B. Petersen M, et al. Brain. 2024 Dec 3;147(12):4265-4279. doi: 10.1093/brain/awae315. Brain. 2024. PMID: 39400198 Free PMC article.
Mechanical confinement governs phenotypic plasticity in melanoma.
Hunter MV, Joshi E, Bowker S, Montal E, Ma Y, Kim YH, Yang Z, Tuffery L, Li Z, Rosiek E, Browning A, Moncada R, Yanai I, Byrne H, Monetti M, de Stanchina E, Hamard PJ, Koche RP, White RM. Hunter MV, et al. Among authors: browning a. Nature. 2025 Aug 27. doi: 10.1038/s41586-025-09445-6. Online ahead of print. Nature. 2025. PMID: 40866703
302 results