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452 results

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Page 1
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis.
Lees JA, Ferwerda B, Kremer PHC, Wheeler NE, Serón MV, Croucher NJ, Gladstone RA, Bootsma HJ, Rots NY, Wijmega-Monsuur AJ, Sanders EAM, Trzciński K, Wyllie AL, Zwinderman AH, van den Berg LH, van Rheenen W, Veldink JH, Harboe ZB, Lundbo LF, de Groot LCPGM, van Schoor NM, van der Velde N, Ängquist LH, Sørensen TIA, Nohr EA, Mentzer AJ, Mills TC, Knight JC, du Plessis M, Nzenze S, Weiser JN, Parkhill J, Madhi S, Benfield T, von Gottberg A, van der Ende A, Brouwer MC, Barrett JC, Bentley SD, van de Beek D. Lees JA, et al. Among authors: knight jc. Nat Commun. 2019 May 15;10(1):2176. doi: 10.1038/s41467-019-09976-3. Nat Commun. 2019. PMID: 31092817 Free PMC article.
A genetics-led approach defines the drug target landscape of 30 immune-related traits.
Fang H; ULTRA-DD Consortium; De Wolf H, Knezevic B, Burnham KL, Osgood J, Sanniti A, Lledó Lara A, Kasela S, De Cesco S, Wegner JK, Handunnetthi L, McCann FE, Chen L, Sekine T, Brennan PE, Marsden BD, Damerell D, O'Callaghan CA, Bountra C, Bowness P, Sundström Y, Milani L, Berg L, Göhlmann HW, Peeters PJ, Fairfax BP, Sundström M, Knight JC. Fang H, et al. Among authors: knight jc. Nat Genet. 2019 Jul;51(7):1082-1091. doi: 10.1038/s41588-019-0456-1. Epub 2019 Jun 28. Nat Genet. 2019. PMID: 31253980 Free PMC article.
A haemagglutination test for rapid detection of antibodies to SARS-CoV-2.
Townsend A, Rijal P, Xiao J, Tan TK, Huang KA, Schimanski L, Huo J, Gupta N, Rahikainen R, Matthews PC, Crook D, Hoosdally S, Dunachie S, Barnes E, Street T, Conlon CP, Frater J, Arancibia-Cárcamo CV, Rudkin J, Stoesser N, Karpe F, Neville M, Ploeg R, Oliveira M, Roberts DJ, Lamikanra AA, Tsang HP, Bown A, Vipond R, Mentzer AJ, Knight JC, Kwok AJ, Screaton GR, Mongkolsapaya J, Dejnirattisai W, Supasa P, Klenerman P, Dold C, Baillie JK, Moore SC, Openshaw PJM, Semple MG, Turtle LCW, Ainsworth M, Allcock A, Beer S, Bibi S, Skelly D, Stafford L, Jeffrey K, O'Donnell D, Clutterbuck E, Espinosa A, Mendoza M, Georgiou D, Lockett T, Martinez J, Perez E, Gallardo Sanchez V, Scozzafava G, Sobrinodiaz A, Thraves H, Joly E. Townsend A, et al. Among authors: knight jc. Nat Commun. 2021 Mar 29;12(1):1951. doi: 10.1038/s41467-021-22045-y. Nat Commun. 2021. PMID: 33782398 Free PMC article.
Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus.
Downes DJ, Cross AR, Hua P, Roberts N, Schwessinger R, Cutler AJ, Munis AM, Brown J, Mielczarek O, de Andrea CE, Melero I; COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium; Gill DR, Hyde SC, Knight JC, Todd JA, Sansom SN, Issa F, Davies JOJ, Hughes JR. Downes DJ, et al. Among authors: knight jc. Nat Genet. 2021 Nov;53(11):1606-1615. doi: 10.1038/s41588-021-00955-3. Epub 2021 Nov 4. Nat Genet. 2021. PMID: 34737427 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Constructing custom-made radiotranscriptomic signatures of vascular inflammation from routine CT angiograms: a prospective outcomes validation study in COVID-19.
Kotanidis CP, Xie C, Alexander D, Rodrigues JCL, Burnham K, Mentzer A, O'Connor D, Knight J, Siddique M, Lockstone H, Thomas S, Kotronias R, Oikonomou EK, Badi I, Lyasheva M, Shirodaria C, Lumley SF, Constantinides B, Sanderson N, Rodger G, Chau KK, Lodge A, Tsakok M, Gleeson F, Adlam D, Rao P, Indrajeet D, Deshpande A, Bajaj A, Hudson BJ, Srivastava V, Farid S, Krasopoulos G, Sayeed R, Ho LP, Neubauer S, Newby DE, Channon KM, Deanfield J, Antoniades C; COMBAT Consortium; ORFAN investigators. Kotanidis CP, et al. Lancet Digit Health. 2022 Oct;4(10):e705-e716. doi: 10.1016/S2589-7500(22)00132-7. Epub 2022 Aug 26. Lancet Digit Health. 2022. PMID: 36038496 Free PMC article.
452 results