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Page 1
TLR7 gain-of-function genetic variation causes human lupus.
Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, López CA, Gónzalez-Murillo Á, Garulo DC, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, de Lucas Collantes C, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG. Brown GJ, et al. Among authors: turnbull c. Nature. 2022 May;605(7909):349-356. doi: 10.1038/s41586-022-04642-z. Epub 2022 Apr 27. Nature. 2022. PMID: 35477763 Free PMC article.
DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Turnbull C, Bones J, Stanley M, Medhavy A, Wang H, Lorenzo AMD, Cappello J, Shanmuganandam S, Pandey A, Seneviratne S, Brown GJ, Meng X, Fulcher D, Burgio G, Man SM, de Lucas Collantes C, Gasior M, López Granados E, Martin P, Jiang SH, Cook MC, Ellyard JI, Athanasopoulos V, Corry B, Canete PF, Vinuesa CG. Turnbull C, et al. Sci Adv. 2023 Dec 8;9(49):eadi9566. doi: 10.1126/sciadv.adi9566. Epub 2023 Dec 6. Sci Adv. 2023. PMID: 38055819 Free PMC article.
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 Free PMC article.
A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
NIHR Global Health Research Unit on Global Surgery; STARSurg Collaborative. NIHR Global Health Research Unit on Global Surgery, et al. Lancet Digit Health. 2024 Jul;6(7):e507-e519. doi: 10.1016/S2589-7500(24)00065-7. Lancet Digit Health. 2024. PMID: 38906616 Free article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: turnbull c. medRxiv [Preprint]. 2024 May 29:2024.05.28.24307502. doi: 10.1101/2024.05.28.24307502. medRxiv. 2024. PMID: 38854136 Free PMC article. Preprint.
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Bancroft EK, Page EC, Brook MN, Pope J, Thomas S, Myhill K, Helfand BT, Talaty P, Ong KR, Douglas E, Cook J, Rosario DJ, Salinas M, Buys SS, Anson J, Davidson R, Longmuir M, Side L, Eccles DM, Tischkowitz M, Taylor A, Cruellas M, Ballestero EP, Cleaver R, Varughese M, Barwell J, LeButt M, Greenhalgh L, Hart R, Azzabi A, Jobson I, Cogley L, Evans DG, Rothwell J, Taylor N, Hogben M, Saya S; IMPACT Study Steering Committee; IMPACT Collaborators; Eeles RA, Aaronson NK. Bancroft EK, et al. BJU Int. 2024 Jun 5. doi: 10.1111/bju.16432. Online ahead of print. BJU Int. 2024. PMID: 38839570
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
Tsoulaki O, Tischkowitz M, Antoniou AC, Musgrave H, Rea G, Gandhi A, Cox K, Irvine T, Holcombe S, Eccles D, Turnbull C, Cutress R; Meeting Attendees; Archer S, Hanson H. Tsoulaki O, et al. Among authors: turnbull c. Br J Cancer. 2024 Jun;130(12):2027-2036. doi: 10.1038/s41416-024-02733-4. Epub 2024 Jun 4. Br J Cancer. 2024. PMID: 38834743 Free PMC article. Review.
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study.
Allen I, Hassan H, Joko-Fru WY, Huntley C, Loong L, Rahman T, Torr B, Bacon A, Knott C, Jose S, Vernon S, Lüchtenborg M, Pethick J, Lavelle K, McRonald F, Eccles D, Morris EJA, Hardy S, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC. Allen I, et al. Among authors: turnbull c. Lancet Reg Health Eur. 2024 Apr 24;40:100903. doi: 10.1016/j.lanepe.2024.100903. eCollection 2024 May. Lancet Reg Health Eur. 2024. PMID: 38745989 Free PMC article.
438 results