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CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER. Innes J, et al. Among authors: burghel gj. J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16. J Med Genet. 2018. PMID: 28918392
A living biobank of ovarian cancer ex vivo models reveals profound mitotic heterogeneity.
Nelson L, Tighe A, Golder A, Littler S, Bakker B, Moralli D, Murtuza Baker S, Donaldson IJ, Spierings DCJ, Wardenaar R, Neale B, Burghel GJ, Winter-Roach B, Edmondson R, Clamp AR, Jayson GC, Desai S, Green CM, Hayes A, Foijer F, Morgan RD, Taylor SS. Nelson L, et al. Among authors: burghel gj. Nat Commun. 2020 Feb 13;11(1):822. doi: 10.1038/s41467-020-14551-2. Nat Commun. 2020. PMID: 32054838 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.
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England.
Flaum N, Morgan RD, Burghel GJ, Bulman M, Clamp AR, Hasan J, Mitchell CL, Badea D, Moon S, Hogg M, Hadjiyiannakis D, Clancy T, Schlecht H, Woodward ER, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Lalloo FI, Harkness EF, Evans DGR. Flaum N, et al. Among authors: burghel gj. Eur J Hum Genet. 2020 Nov;28(11):1541-1547. doi: 10.1038/s41431-020-0692-y. Epub 2020 Jul 10. Eur J Hum Genet. 2020. PMID: 32651552 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.
66 results