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432 results

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Page 1
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
McDevitt T, Durkie M, Arnold N, Burghel GJ, Butler S, Claes KBM, Logan P, Robinson R, Sheils K, Wolstenholme N, Hanson H, Turnbull C, Hume S. McDevitt T, et al. Among authors: turnbull c. Eur J Hum Genet. 2024 May;32(5):479-488. doi: 10.1038/s41431-023-01507-5. Epub 2024 Mar 5. Eur J Hum Genet. 2024. PMID: 38443545 Free PMC article. Review.
Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.
Zhang Y, Morris R, Brown GJ, Lorenzo AMD, Meng X, Kershaw NJ, Kiridena P, Burgio G, Gross S, Cappello JY, Shen Q, Wang H, Turnbull C, Lea-Henry T, Stanley M, Yu Z, Ballard FD, Chuah A, Lee JC, Hatch AM, Enders A, Masters SL, Headley AP, Trnka P, Mallon D, Fletcher JT, Walters GD, Šestan M, Jelušić M, Cook MC, Athanasopoulos V, Fulcher DA, Babon JJ, Vinuesa CG, Ellyard JI. Zhang Y, et al. Among authors: turnbull c. J Exp Med. 2024 Apr 1;221(4):e20221080. doi: 10.1084/jem.20221080. Epub 2024 Feb 28. J Exp Med. 2024. PMID: 38417019
The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource.
Huntley C, Loong L, Mallinson C, Bethell R, Rahman T, Alhaddad N, Tulloch O, Zhou X, Lee J, Eves P; GMSA Lynch Consortium; McRonald F, Torr B, Burn J, Shaw A, Morris EJA, Monahan K, Hardy S, Turnbull C. Huntley C, et al. Among authors: turnbull c. EClinicalMedicine. 2024 Feb 7;69:102465. doi: 10.1016/j.eclinm.2024.102465. eCollection 2024 Mar. EClinicalMedicine. 2024. PMID: 38356732 Free PMC article.
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.
McRonald FE, Pethick J, Santaniello F, Shand B, Tyson A, Tulloch O, Goel S, Lüchtenborg M, Borthwick GM, Turnbull C, Shaw AC, Monahan KJ, Frayling IM, Hardy S, Burn J. McRonald FE, et al. Among authors: turnbull c. Eur J Hum Genet. 2024 May;32(5):529-538. doi: 10.1038/s41431-024-01550-w. Epub 2024 Feb 15. Eur J Hum Genet. 2024. PMID: 38355963 Free PMC article.
Mild obstructive sleep apnoea in females: post hoc analysis of the MERGE randomised controlled trial.
Wimms AJ, Kelly JL, Turnbull CD, McMillan A, Craig SE, O'Reilly JF, Nickol AH, Decker MD, Willes LA, Calverley PMA, Benjafield AV, Stradling JR, Morrell MJ; MERGE Trial Investigators. Wimms AJ, et al. Among authors: turnbull cd. ERJ Open Res. 2024 Feb 5;10(1):00574-2023. doi: 10.1183/23120541.00574-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38333643 Free PMC article.
GRAIL-Galleri: why the special treatment?
Turnbull C, Wald N, Sullivan R, Pharoah P, Houlston RS, Aggarwal A, Hogarth S, McCartney M. Turnbull C, et al. Lancet. 2024 Feb 3;403(10425):431-432. doi: 10.1016/S0140-6736(23)02830-1. Epub 2024 Jan 19. Lancet. 2024. PMID: 38253053 No abstract available.
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L, Hamblin A, Arumugam P, Chan G, Chubb D, Noyvert B, Mitchell J, Walker S, Bowman K, Pasko D, Buongermino Pereira M, Volkova N, Rueda-Martin A, Perez-Gil D, Lopez J, Pullinger J, Siddiq A, Zainy T, Choudhury T, Yavorska O, Fowler T, Bentley D, Kingsley C, Hing S, Deans Z, Rendon A, Hill S, Caulfield M, Murugaesu N. Sosinsky A, et al. Among authors: turnbull c. Nat Med. 2024 Jan;30(1):279-289. doi: 10.1038/s41591-023-02682-0. Epub 2024 Jan 11. Nat Med. 2024. PMID: 38200255 Free PMC article.
432 results