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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. Among authors: burghel gj. 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.
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: burghel gj. 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.
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: burghel gj. 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.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, 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, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. Among authors: burghel gj. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 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: burghel gj. 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.
A randomised phase 2 study of intermittent versus continuous dosing of dabrafenib plus trametinib in patients with BRAFV600 mutant advanced melanoma (INTERIM).
Dayimu A, Gupta A, Matin RN, Nobes J, Board R, Payne M, Rao A, Fusi A, Danson S, Eccles B, Carser J, Brown CO, Steven N, Bhattacharyya M, Brown E, Gonzalez M, Highley M, Pickering L, Kumar S, Waterston A, Burghel G, Demain L, Baker E, Wulff J, Qian W, Twelves S, Middleton M, Corrie P. Dayimu A, et al. Eur J Cancer. 2024 Jan;196:113455. doi: 10.1016/j.ejca.2023.113455. Epub 2023 Nov 24. Eur J Cancer. 2024. PMID: 38029480 Free article. Clinical Trial.
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).
Torr B, Bell N, McCarthy R, Hamill M, Nolan J, Muralidharan S, Andrews C, Valganon-Petrizan M, Clinch Y, MacMahon S, Morilla A, George A, Ryves P, Dasani P, Adegoroye M, Schlecht H, Burghel GJ, Ornadel W, Gordon N, Steele L, Lukic S, Watts E, Evans DG, Manchanda R, Turnbull C. Torr B, et al. Among authors: burghel gj. J Med Genet. 2024 Dec 22:jmg-2024-110390. doi: 10.1136/jmg-2024-110390. Online ahead of print. J Med Genet. 2024. PMID: 39715636 Free article.
67 results