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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 TNIP1-driven systemic autoimmune disorder with elevated IgG4.
Medhavy A, Athanasopoulos V, Bassett K, He Y, Stanley M, Enosi Tuipulotu D, Cappello J, Brown GJ, Gonzalez-Figueroa P, Turnbull C, Shanmuganandam S, Tummala P, Hart G, Lea-Henry T, Wang H, Nambadan S, Shen Q, Roco JA, Burgio G, Wu P, Cho E, Andrews TD, Field MA, Wu X, Ding H, Guo Q, Shen N, Man SM, Jiang SH, Cook MC, Vinuesa CG. Medhavy A, et al. Among authors: turnbull c. Nat Immunol. 2024 Sep;25(9):1678-1691. doi: 10.1038/s41590-024-01902-0. Epub 2024 Jul 26. Nat Immunol. 2024. PMID: 39060650 Free PMC article.
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing.
Evans DG, Woodward ER, Burghel GJ, Allen S, Torr B, Hamill M, Kavanaugh G, Hubank M, Bremner S, Jones CI, Schlecht H, Astley S, Bowers S, Gibbons S, Ruane H, Fosbury C, Howell SJ, Forde C, Lalloo F, Newman WG, Smith MJ, Howell A, Turnbull C, Gandhi A. Evans DG, et al. Among authors: turnbull c. Genet Med Open. 2023 Nov 25;2:100849. doi: 10.1016/j.gimo.2023.100849. eCollection 2024. Genet Med Open. 2023. PMID: 39669617 Free PMC article.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: turnbull c. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Second Primary Cancer Risks After Breast Cancer in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Allen I, Hassan H, Walburga Y, Huntley C, Loong L, Rahman T, Allen S, Garrett A, Torr B, Bacon A, Knott C, Jose S, Vernon S, Lüchtenborg M, Pethick J, Santaniello F, Goel S, Wang YW, Lavelle K, McRonald F, Eccles D, Morris E, Hardy S, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC. Allen I, et al. Among authors: turnbull c. J Clin Oncol. 2024 Oct 29:JCO2401146. doi: 10.1200/JCO.24.01146. Online ahead of print. J Clin Oncol. 2024. PMID: 39475295 Free PMC article.
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.
Loong L, Huntley C, Pethick J, McRonald F, Santaniello F, Shand B, Tulloch O, Goel S, Lüchtenborg M, Allen S, Torr B, Snape K, George A, Lalloo F, Norbury G, Eccles DM, Tischkowitz M, Antoniou AC, Pharoah P, Shaw A, Morris E, Burn J, Monahan K, Hardy S, Turnbull C. Loong L, et al. Among authors: turnbull c. J Med Genet. 2024 Nov 25;61(12):1080-1088. doi: 10.1136/jmg-2024-110231. J Med Genet. 2024. PMID: 39433398 Free article.
458 results