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

Year Number of Results
1962 2
1966 1
1968 1
1969 1
1970 1
1971 1
1976 2
1978 1
1979 2
1980 1
1981 1
1983 1
1985 1
1986 4
1987 2
1988 1
1990 1
1991 1
1992 10
1993 2
1994 3
1995 10
1996 8
1997 4
1998 5
1999 3
2000 10
2001 3
2002 2
2003 6
2004 12
2005 5
2006 8
2007 13
2008 10
2009 14
2010 16
2011 8
2012 14
2013 10
2014 17
2015 12
2016 16
2017 13
2018 20
2019 10
2020 24
2021 12
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Search Results

302 results
Results by year
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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. Among authors: smith kgc. 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.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Among authors: smith kgc. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Screening of healthcare workers for SARS-CoV-2 highlights the role of asymptomatic carriage in COVID-19 transmission.
Rivett L, Sridhar S, Sparkes D, Routledge M, Jones NK, Forrest S, Young J, Pereira-Dias J, Hamilton WL, Ferris M, Torok ME, Meredith L; CITIID-NIHR COVID-19 BioResource Collaboration, Curran MD, Fuller S, Chaudhry A, Shaw A, Samworth RJ, Bradley JR, Dougan G, Smith KG, Lehner PJ, Matheson NJ, Wright G, Goodfellow IG, Baker S, Weekes MP. Rivett L, et al. Among authors: smith kg. Elife. 2020 May 11;9:e58728. doi: 10.7554/eLife.58728. Elife. 2020. PMID: 32392129 Free PMC article.
Analysis of the B cell receptor repertoire in six immune-mediated diseases.
Bashford-Rogers RJM, Bergamaschi L, McKinney EF, Pombal DC, Mescia F, Lee JC, Thomas DC, Flint SM, Kellam P, Jayne DRW, Lyons PA, Smith KGC. Bashford-Rogers RJM, et al. Among authors: smith kgc. Nature. 2019 Oct;574(7776):122-126. doi: 10.1038/s41586-019-1595-3. Epub 2019 Sep 25. Nature. 2019. PMID: 31554970 Free PMC article.
A blood-based prognostic biomarker in IBD.
Biasci D, Lee JC, Noor NM, Pombal DR, Hou M, Lewis N, Ahmad T, Hart A, Parkes M, McKinney EF, Lyons PA, Smith KGC. Biasci D, et al. Among authors: smith kgc. Gut. 2019 Aug;68(8):1386-1395. doi: 10.1136/gutjnl-2019-318343. Epub 2019 Apr 27. Gut. 2019. PMID: 31030191 Free PMC article.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Among authors: smith kgc. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status.
Lyons PA, Peters JE, Alberici F, Liley J, Coulson RMR, Astle W, Baldini C, Bonatti F, Cid MC, Elding H, Emmi G, Epplen J, Guillevin L, Jayne DRW, Jiang T, Gunnarsson I, Lamprecht P, Leslie S, Little MA, Martorana D, Moosig F, Neumann T, Ohlsson S, Quickert S, Ramirez GA, Rewerska B, Schett G, Sinico RA, Szczeklik W, Tesar V, Vukcevic D; European Vasculitis Genetics Consortium, Terrier B, Watts RA, Vaglio A, Holle JU, Wallace C, Smith KGC. Lyons PA, et al. Among authors: smith kgc. Nat Commun. 2019 Nov 12;10(1):5120. doi: 10.1038/s41467-019-12515-9. Nat Commun. 2019. PMID: 31719529 Free PMC article.
Effective control of SARS-CoV-2 transmission between healthcare workers during a period of diminished community prevalence of COVID-19.
Jones NK, Rivett L, Sparkes D, Forrest S, Sridhar S, Young J, Pereira-Dias J, Cormie C, Gill H, Reynolds N, Wantoch M, Routledge M, Warne B, Levy J, Córdova Jiménez WD, Samad FNB, McNicholas C, Ferris M, Gray J, Gill M; CITIID-NIHR COVID-19 BioResource Collaboration, Curran MD, Fuller S, Chaudhry A, Shaw A, Bradley JR, Hannon GJ, Goodfellow IG, Dougan G, Smith KG, Lehner PJ, Wright G, Matheson NJ, Baker S, Weekes MP. Jones NK, et al. Among authors: smith kg. Elife. 2020 Jun 19;9:e59391. doi: 10.7554/eLife.59391. Elife. 2020. PMID: 32558644 Free PMC article.
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED. Spencer S, et al. Among authors: smith kgc. J Exp Med. 2019 Sep 2;216(9):1986-1998. doi: 10.1084/jem.20190344. Epub 2019 Jun 24. J Exp Med. 2019. PMID: 31235509 Free PMC article.
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