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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. Among authors: cazier jb. 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.
Identification and validation of a machine learning model of complete response to radiation in rectal cancer reveals immune infiltrate and TGFβ as key predictors.
Domingo E, Rathee S, Blake A, Samuel L, Murray G, Sebag-Montefiore D, Gollins S, West N, Begum R, Richman S, Quirke P, Redmond K, Chatzipli A, Barberis A, Hassanieh S, Mahmood U, Youdell M, McDermott U, Koelzer V, Leedham S, Tomlinson I, Dunne P; S:CORT consortium; Buffa FM, Maughan TS. Domingo E, et al. EBioMedicine. 2024 Aug;106:105228. doi: 10.1016/j.ebiom.2024.105228. Epub 2024 Jul 16. EBioMedicine. 2024. PMID: 39013324 Free PMC article.
Tumour purity assessment with deep learning in colorectal cancer and impact on molecular analysis.
Schoenpflug LA, Chatzipli A, Sirinukunwattana K, Richman S, Blake A, Robineau J, Mertz KD, Verrill C, Leedham SJ, Hardy C, Whalley C, Redmond K, Dunne P, Walker S, Beggs AD, McDermott U, Murray GI, Samuel LM, Seymour M, Tomlinson I, Quirke P; S:CORT consortium; Rittscher J, Maughan T, Domingo E, Koelzer VH. Schoenpflug LA, et al. J Pathol. 2024 Dec 22. doi: 10.1002/path.6376. Online ahead of print. J Pathol. 2024. PMID: 39710952
Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.
Zidane M, Haber M, Truong T, Rachédi F, Ory C, Chevillard S, Blanché H, Olaso R, Boland A, Conte É, Karimi M, Ren Y, Xhaard C, Souchard V, Gardon J, Taquet M, Bouville A, Deleuze JF, Drozdovitch V, de Vathaire F, Cazier JB. Zidane M, et al. Among authors: cazier jb. Precis Clin Med. 2023 Jun 13;6(2):pbad015. doi: 10.1093/pcmedi/pbad015. eCollection 2023 Jun. Precis Clin Med. 2023. PMID: 37383672 Free PMC article.
Crosstalk between AML and stromal cells triggers acetate secretion through the metabolic rewiring of stromal cells.
Vilaplana-Lopera N, Cuminetti V, Almaghrabi R, Papatzikas G, Rout AK, Jeeves M, González E, Alyahyawi Y, Cunningham A, Erdem A, Schnütgen F, Raghavan M, Potluri S, Cazier JB, Schuringa JJ, Reed MAC, Arranz L, Günther UL, Garcia P. Vilaplana-Lopera N, et al. Among authors: cazier jb. Elife. 2022 Sep 2;11:e75908. doi: 10.7554/eLife.75908. Elife. 2022. PMID: 36052997 Free PMC article.
Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.
Goel A, Ward DG, Noyvert B, Yu M, Gordon NS, Abbotts B, Colbourne JK, Kissane S, James ND, Zeegers MP, Cheng KK, Cazier JB, Whalley CM, Beggs AD, Palles C, Arnold R, Bryan RT. Goel A, et al. Among authors: cazier jb. Genome Med. 2022 Jun 3;14(1):59. doi: 10.1186/s13073-022-01056-4. Genome Med. 2022. PMID: 35655252 Free PMC article.
Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies.
Noronha NY, da Silva Rodrigues G, de Souza Pinhel MA, Cazier JB, Watanabe LM, Menezes AN, Bueno CR, Nicoletti CF, de Oliveira BAP, Schineider IM, Yonehara Noma IH, Dias Alcarás IC, Barbosa F, Barbosa Nonino C. Noronha NY, et al. Among authors: cazier jb. J Vis Exp. 2022 May 6;(183). doi: 10.3791/62598. J Vis Exp. 2022. PMID: 35604163
120 results