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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: cubuk c. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: cubuk c. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Among authors: cubuk c. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk C, Garrett A, Choi S, King L, Loveday C, Torr B, Burghel GJ, Durkie M, Callaway A, Robinson R, Drummond J, Berry I, Wallace A, Eccles D, Tischkowitz M, Whiffin N, Ware JS, Hanson H, Turnbull C, CanVIG-Uk. Cubuk C, et al. Genet Med. 2021 Nov;23(11):2096-2104. doi: 10.1038/s41436-021-01265-z. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230640 Free PMC article.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: cubuk c. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
Sodium channels Nav1.7, Nav1.8 and pain; two distinct mechanisms for Nav1.7 null analgesia.
Iseppon F, Kanellopoulos AH, Tian N, Zhou J, Caan G, Chiozzi R, Thalassinos K, Çubuk C, Lewis MJ, Cox JJ, Zhao J, Woods CG, Wood JN. Iseppon F, et al. Among authors: cubuk c. Neurobiol Pain. 2024 Oct 11;16:100168. doi: 10.1016/j.ynpai.2024.100168. eCollection 2024 Jul-Dec. Neurobiol Pain. 2024. PMID: 39559752 Free PMC article.
Autoimmunity to stromal-derived autoantigens in rheumatoid ectopic germinal centers exacerbates arthritis and affects clinical response.
Corsiero E, Caliste M, Jagemann L, Fossati-Jimack L, Goldmann K, Cubuk C, Ghirardi GM, Prediletto E, Rivellese F, Alessandri C, Hopkinson M, Javaheri B, Pitsillides AA, Lewis MJ, Pitzalis C, Bombardieri M. Corsiero E, et al. Among authors: cubuk c. J Clin Invest. 2024 Apr 30;134(12):e169754. doi: 10.1172/JCI169754. J Clin Invest. 2024. PMID: 38950333 Free PMC article.
Axl and MerTK regulate synovial inflammation and are modulated by IL-6 inhibition in rheumatoid arthritis.
Nerviani A, Boutet MA, Ghirardi GM, Goldmann K, Sciacca E, Rivellese F, Pontarini E, Prediletto E, Abatecola F, Caliste M, Pagani S, Mauro D, Bellan M, Cubuk C, Lau R, Church SE, Hudson BM, Humby F, Bombardieri M, Lewis MJ, Pitzalis C. Nerviani A, et al. Among authors: cubuk c. Nat Commun. 2024 Mar 16;15(1):2398. doi: 10.1038/s41467-024-46564-6. Nat Commun. 2024. PMID: 38493215 Free PMC article.
42 results