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Year Number of Results
1965 2
1969 1
1971 1
1973 1
1974 1
1975 3
1976 2
1977 1
1978 3
1979 2
1981 1
1982 1
1987 1
1989 1
1990 1
1991 1
2002 1
2003 2
2004 2
2008 1
2009 1
2010 1
2012 2
2013 1
2014 3
2015 3
2016 6
2017 10
2018 10
2019 14
2020 15
2021 13
2022 20
2023 24
2024 11

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151 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: kingston n. 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.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 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. 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.
JAK-STAT Signaling in Inflammatory Breast Cancer Enables Chemotherapy-Resistant Cell States.
Stevens LE, Peluffo G, Qiu X, Temko D, Fassl A, Li Z, Trinh A, Seehawer M, Jovanović B, Alečković M, Wilde CM, Geck RC, Shu S, Kingston NL, Harper NW, Almendro V, Pyke AL, Egri SB, Papanastasiou M, Clement K, Zhou N, Walker S, Salas J, Park SY, Frank DA, Meissner A, Jaffe JD, Sicinski P, Toker A, Michor F, Long HW, Overmoyer BA, Polyak K. Stevens LE, et al. Among authors: kingston nl. Cancer Res. 2023 Jan 18;83(2):264-284. doi: 10.1158/0008-5472.CAN-22-0423. Cancer Res. 2023. PMID: 36409824 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. 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.
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. 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.
Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses.
Michael BD, Dunai C, Needham EJ, Tharmaratnam K, Williams R, Huang Y, Boardman SA, Clark JJ, Sharma P, Subramaniam K, Wood GK, Collie C, Digby R, Ren A, Norton E, Leibowitz M, Ebrahimi S, Fower A, Fox H, Tato E, Ellul MA, Sunderland G, Held M, Hetherington C, Egbe FN, Palmos A, Stirrups K, Grundmann A, Chiollaz AC, Sanchez JC, Stewart JP, Griffiths M, Solomon T, Breen G, Coles AJ, Kingston N, Bradley JR, Chinnery PF, Cavanagh J, Irani SR, Vincent A, Baillie JK, Openshaw PJ, Semple MG; ISARIC4C Investigators; COVID-CNS Consortium; Taams LS, Menon DK. Michael BD, et al. Among authors: kingston n. Nat Commun. 2023 Dec 22;14(1):8487. doi: 10.1038/s41467-023-42320-4. Nat Commun. 2023. PMID: 38135686 Free PMC article.
Stromal Reprogramming by FAK Inhibition Overcomes Radiation Resistance to Allow for Immune Priming and Response to Checkpoint Blockade.
Lander VE, Belle JI, Kingston NL, Herndon JM, Hogg GD, Liu X, Kang LI, Knolhoff BL, Bogner SJ, Baer JM, Zuo C, Borcherding NC, Lander DP, Mpoy C, Scott J, Zahner M, Rogers BE, Schwarz JK, Kim H, DeNardo DG. Lander VE, et al. Among authors: kingston nl. Cancer Discov. 2022 Dec 2;12(12):2774-2799. doi: 10.1158/2159-8290.CD-22-0192. Cancer Discov. 2022. PMID: 36165893 Free PMC article.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL. French CE, et al. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
151 results