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Year Number of Results
2010 1
2013 1
2015 1
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2017 2
2018 5
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2020 9
2021 15
2022 13
2023 12
2024 9

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58 results

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Page 1
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C. Kuzbari Z, et al. Among authors: burghel gj. Ann Oncol. 2023 Mar;34(3):215-227. doi: 10.1016/j.annonc.2022.12.003. Epub 2022 Dec 16. Ann Oncol. 2023. PMID: 36529447 Free article.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: burghel gj. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial.
Morgan RD, Clamp AR, White DJ, Price M, Burghel GJ, Ryder WDJ, Mahmood RD, Murphy AD, Hasan J, Mitchell CL, Salih Z, Wheeler C, Buckley E, Truelove J, King G, Ainaoui Y, Bhaskar SS, Shaw J, Evans DGR, Kilerci B, Pearce SP, Brady G, Dive C, O'Connor JPB, Wallace AJ, Rothwell DG, Edmondson RJ, Jayson GC. Morgan RD, et al. Among authors: burghel gj. Clin Cancer Res. 2023 Jul 14;29(14):2602-2611. doi: 10.1158/1078-0432.CCR-22-3282. Clin Cancer Res. 2023. PMID: 36799931
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell CL, Salih Z, Woodward ER, Lalloo F, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR. Morgan RD, et al. Among authors: burghel gj. Br J Cancer. 2022 Jul;127(1):163-167. doi: 10.1038/s41416-022-01773-y. Epub 2022 Mar 8. Br J Cancer. 2022. PMID: 35260807 Free PMC article. Review.
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
McDevitt T, Durkie M, Arnold N, Burghel GJ, Butler S, Claes KBM, Logan P, Robinson R, Sheils K, Wolstenholme N, Hanson H, Turnbull C, Hume S. McDevitt T, et al. Among authors: burghel gj. Eur J Hum Genet. 2024 May;32(5):479-488. doi: 10.1038/s41431-023-01507-5. Epub 2024 Mar 5. Eur J Hum Genet. 2024. PMID: 38443545 Free PMC article. Review.
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. Among authors: burghel g. 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.
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.
58 results