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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
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.
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ. Evans DG, et al. Among authors: burghel gj. J Med Genet. 2022 Feb;59(2):115-121. doi: 10.1136/jmedgenet-2020-107347. Epub 2021 Mar 23. J Med Genet. 2022. PMID: 33758026 Free PMC article.
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward ER, van Veen EM, Forde C, Harkness EF, Byers HJ, Ellingford JM, Burghel GJ, Schlech H, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Gareth Evans D. Woodward ER, et al. Among authors: burghel gj. Genet Med. 2021 Oct;23(10):1969-1976. doi: 10.1038/s41436-021-01234-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113003 Free PMC article.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Among authors: burghel gj. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 Free PMC article.
54 results