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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, Field J, McDevitt T, McVeigh TP, Bedenham T, Bowles C, Bradshaw K, Brooks C, Butler S, Del Rey Jimenez JC, Hawkes L, Stinton V, MacMahon S, Owens M, Palmer-Smith S, Smith K, Tellez J, Valganon-Petrizan M, Waskiewicz E, Yau M, Eccles DM, Tischkowitz M, Goel S, McRonald F, Antoniou AC, Morris E, Hardy S, Turnbull C. Allen S, et al. Among authors: macmahon s. J Med Genet. 2024 Mar 21;61(4):305-312. doi: 10.1136/jmg-2023-109645. J Med Genet. 2024. PMID: 38154813 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. 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.
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
Torr B, Jones C, Choi S, Allen S, Kavanaugh G, Hamill M, Garrett A, MacMahon S, Loong L, Reay A, Yuan L, Valganon Petrizan M, Monson K, Perry N, Fallowfield L, Jenkins V, Gold R, Taylor A, Gabe R, Wiggins J, Lucassen A, Manchanda R, Gandhi A, George A, Hubank M, Kemp Z, Evans DG, Bremner S, Turnbull C. Torr B, et al. Among authors: macmahon s. J Med Genet. 2022 Dec;59(12):1179-1188. doi: 10.1136/jmg-2022-108655. Epub 2022 Jul 22. J Med Genet. 2022. PMID: 35868849 Free PMC article. Clinical Trial.
Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study.
Morgan RD, Clamp AR, Barnes BM, Timms K, Schlecht H, Yarram-Smith L, Wallis Y, Valganon-Petrizan M, MacMahon S, White R, Morgan S, McKenna S, Hudson E, Tookman L, George A, Manchanda R, Sundar SS, Nicum S, Brenton JD, Kristeleit RS, Banerjee S, McNeish IA, Ledermann JA, Taylor SS, Evans DGR, Jayson GC. Morgan RD, et al. Among authors: macmahon s. Int J Gynecol Cancer. 2023 Aug 7;33(8):1253-1259. doi: 10.1136/ijgc-2022-004211. Int J Gynecol Cancer. 2023. PMID: 37072323
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. 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.
The Cancer Research UK Stratified Medicine Programme as a model for delivering personalised cancer care.
Cerone MA, Mills TC, Sharpe R, McBride D, MacDonald M, MacMahon S, Mugalaasi H, Rehal P, Rettino A, Roberts H, Ross M, White DE, Peden J, Rawlinson J, Ho SN, Hollingsworth S, Popat S, Middleton G, Johnson P, Swanton C; SMP2 consortium. Cerone MA, et al. Among authors: macmahon s. Br J Cancer. 2023 Jan;128(2):161-164. doi: 10.1038/s41416-022-02107-8. Epub 2023 Jan 4. Br J Cancer. 2023. PMID: 36599918 Free PMC article.
Correction to: The Cancer Research UK Stratified Medicine Programme as a model for delivering personalised cancer care.
Cerone MA, Mills TC, Sharpe R, McBride D, MacDonald M, MacMahon S, Mugalaasi H, Rehal P, Rettino A, Roberts H, Ross M, White DE, Peden J, Rawlinson J, Ho SN, Hollingsworth S, Popat S, Middleton G, Johnson P, Swanton C; SMP2 consortium. Cerone MA, et al. Among authors: macmahon s. Br J Cancer. 2023 Jan;128(2):399. doi: 10.1038/s41416-023-02160-x. Br J Cancer. 2023. PMID: 36697967 Free PMC article. No abstract available.
379 results