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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 10

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278 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.
Long-term follow-up of a patient with JAG1-associated retinopathy.
Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC. Cheema MR, et al. Among authors: browning ac. Doc Ophthalmol. 2021 Oct;143(2):237-247. doi: 10.1007/s10633-021-09836-w. Epub 2021 Apr 20. Doc Ophthalmol. 2021. PMID: 33877487
Quantitative analysis of tumour spheroid structure.
Browning AP, Sharp JA, Murphy RJ, Gunasingh G, Lawson B, Burrage K, Haass NK, Simpson M. Browning AP, et al. Elife. 2021 Nov 29;10:e73020. doi: 10.7554/eLife.73020. Elife. 2021. PMID: 34842141 Free PMC article.
278 results