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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 12
2009 14
2010 16
2011 11
2012 19
2013 12
2014 21
2015 12
2016 16
2017 13
2018 24
2019 12
2020 29
2021 25
2022 25
2023 24
2024 11

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389 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. 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.
Single-cell multi-omics analysis of the immune response in COVID-19.
Stephenson E, Reynolds G, Botting RA, Calero-Nieto FJ, Morgan MD, Tuong ZK, Bach K, Sungnak W, Worlock KB, Yoshida M, Kumasaka N, Kania K, Engelbert J, Olabi B, Spegarova JS, Wilson NK, Mende N, Jardine L, Gardner LCS, Goh I, Horsfall D, McGrath J, Webb S, Mather MW, Lindeboom RGH, Dann E, Huang N, Polanski K, Prigmore E, Gothe F, Scott J, Payne RP, Baker KF, Hanrath AT, Schim van der Loeff ICD, Barr AS, Sanchez-Gonzalez A, Bergamaschi L, Mescia F, Barnes JL, Kilich E, de Wilton A, Saigal A, Saleh A, Janes SM, Smith CM, Gopee N, Wilson C, Coupland P, Coxhead JM, Kiselev VY, van Dongen S, Bacardit J, King HW; Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID-19 BioResource Collaboration; Rostron AJ, Simpson AJ, Hambleton S, Laurenti E, Lyons PA, Meyer KB, Nikolić MZ, Duncan CJA, Smith KGC, Teichmann SA, Clatworthy MR, Marioni JC, Göttgens B, Haniffa M. Stephenson E, et al. Among authors: smith kgc. Nat Med. 2021 May;27(5):904-916. doi: 10.1038/s41591-021-01329-2. Epub 2021 Apr 20. Nat Med. 2021. PMID: 33879890 Free PMC article.
Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity.
Meng B, Abdullahi A, Ferreira IATM, Goonawardane N, Saito A, Kimura I, Yamasoba D, Gerber PP, Fatihi S, Rathore S, Zepeda SK, Papa G, Kemp SA, Ikeda T, Toyoda M, Tan TS, Kuramochi J, Mitsunaga S, Ueno T, Shirakawa K, Takaori-Kondo A, Brevini T, Mallery DL, Charles OJ; CITIID-NIHR BioResource COVID-19 Collaboration; Genotype to Phenotype Japan (G2P-Japan) Consortium; Ecuador-COVID19 Consortium; Bowen JE, Joshi A, Walls AC, Jackson L, Martin D, Smith KGC, Bradley J, Briggs JAG, Choi J, Madissoon E, Meyer KB, Mlcochova P, Ceron-Gutierrez L, Doffinger R, Teichmann SA, Fisher AJ, Pizzuto MS, de Marco A, Corti D, Hosmillo M, Lee JH, James LC, Thukral L, Veesler D, Sigal A, Sampaziotis F, Goodfellow IG, Matheson NJ, Sato K, Gupta RK. Meng B, et al. Among authors: smith kgc. Nature. 2022 Mar;603(7902):706-714. doi: 10.1038/s41586-022-04474-x. Epub 2022 Feb 1. Nature. 2022. PMID: 35104837 Free PMC article.
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease.
Mishra N, Aden K, Blase JI, Baran N, Bordoni D, Tran F, Conrad C, Avalos D, Jaeckel C, Scherer M, Sørensen SB, Overgaard SH, Schulte B, Nikolaus S, Rey G, Gasparoni G, Lyons PA, Schultze JL, Walter J, Andersen V; SYSCID Consortium; Dermitzakis ET, Schreiber S, Rosenstiel P. Mishra N, et al. Genome Med. 2022 Sep 24;14(1):110. doi: 10.1186/s13073-022-01112-z. Genome Med. 2022. PMID: 36153599 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.
FcγRIIB and autoimmunity.
Espéli M, Smith KG, Clatworthy MR. Espéli M, et al. Among authors: smith kg. Immunol Rev. 2016 Jan;269(1):194-211. doi: 10.1111/imr.12368. Immunol Rev. 2016. PMID: 26683154 Review.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Association of Metformin With the Development of Age-Related Macular Degeneration.
Domalpally A, Whittier SA, Pan Q, Dabelea DM, Darwin CH, Knowler WC, Lee CG, Luchsinger JA, White NH, Chew EY; Diabetes Prevention Program Research (DPPOS) Group. Domalpally A, et al. JAMA Ophthalmol. 2023 Feb 1;141(2):140-147. doi: 10.1001/jamaophthalmol.2022.5567. JAMA Ophthalmol. 2023. PMID: 36547967 Free PMC article.
389 results