| Genomic subtypes of non-invasive bladder cancer with distinct metabolic profile and female gender bias in KDM6A mutation frequency CD Hurst, O Alder, FM Platt, A Droop, LF Stead, JE Burns, GJ Burghel, ... Cancer cell 32 (5), 701-715. e7, 2017 | 285 | 2017 |
| Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes BM Barnes, L Nelson, A Tighe, GJ Burghel, IH Lin, S Desai, JC McGrail, ... Genome Medicine 13, 1-19, 2021 | 79 | 2021 |
| Hereditary leiomyomatosis and renal cell cancer: clinical, molecular, and screening features in a cohort of 185 affected individuals C Forde, DHK Lim, Y Alwan, G Burghel, L Butland, R Cleaver, A Dixit, ... European urology oncology 3 (6), 764-772, 2020 | 77 | 2020 |
| A living biobank of ovarian cancer ex vivo models reveals profound mitotic heterogeneity L Nelson, A Tighe, A Golder, S Littler, B Bakker, D Moralli, ... Nature communications 11 (1), 822, 2020 | 71 | 2020 |
| Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations Z Kuzbari, C Bandlamudi, C Loveday, A Garrett, M Mehine, A George, ... Annals of Oncology 34 (3), 215-227, 2023 | 56 | 2023 |
| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes C Cubuk, A Garrett, S Choi, L King, C Loveday, B Torr, GJ Burghel, ... Genetics in Medicine 23 (11), 2096-2104, 2021 | 56 | 2021 |
| Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations A Garrett, M Durkie, A Callaway, GJ Burghel, R Robinson, J Drummond, ... Journal of medical genetics 58 (5), 297-304, 2021 | 48 | 2021 |
| Implementation of multigene germline and parallel somatic genetic testing in epithelial ovarian cancer: SIGNPOST study D Chandrasekaran, M Sobocan, O Blyuss, RE Miller, O Evans, SM Crusz, ... Cancers 13 (17), 4344, 2021 | 43 | 2021 |
| Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network A Garrett, A Callaway, M Durkie, C Cubuk, M Alikian, GJ Burghel, ... Journal of Medical Genetics 57 (12), 829-834, 2020 | 38 | 2020 |
| Identification of candidate driver genes in common focal chromosomal aberrations of microsatellite stable colorectal cancer GJ Burghel, WY Lin, H Whitehouse, I Brock, D Hammond, J Bury, ... PLoS One 8 (12), e83859, 2013 | 37 | 2013 |
| Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases RD Morgan, GJ Burghel, N Flaum, M Bulman, AR Clamp, J Hasan, ... Journal of medical genetics 56 (5), 301-307, 2019 | 32 | 2019 |
| Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England N Flaum, RD Morgan, GJ Burghel, M Bulman, AR Clamp, J Hasan, ... European Journal of Human Genetics 28 (11), 1541-1547, 2020 | 30 | 2020 |
| Replication catastrophe is responsible for intrinsic PAR glycohydrolase inhibitor-sensitivity in patient-derived ovarian cancer models C Coulson-Gilmer, RD Morgan, L Nelson, BM Barnes, A Tighe, ... Journal of Experimental & Clinical Cancer Research 40, 1-26, 2021 | 23 | 2021 |
| Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) L Loong, A Garrett, S Allen, S Choi, M Durkie, A Callaway, J Drummond, ... Genetics in Medicine 24 (9), 1867-1877, 2022 | 22 | 2022 |
| Towards a Next‐Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms GJ Burghel, CD Hurst, CM Watson, PA Chambers, H Dickinson, P Roberts, ... BioMed Research International 2015 (1), 478017, 2015 | 22 | 2015 |
| Molecular analysis of CAG repeat length of the androgen receptor gene and Y chromosome microdeletions among Jordanian azoospermic infertile males O Batiha, S Haifawi, M Al‐Smadi, GJ Burghel, Z Naber, AM Elbetieha, ... Andrologia 50 (4), e12979, 2018 | 21 | 2018 |
| High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer DG Evans, EM van Veen, HJ Byers, SJ Evans, GJ Burghel, ER Woodward, ... Journal of medical genetics 59 (2), 115-121, 2022 | 20 | 2022 |
| Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders LP Molina-Ramírez, C Kyle, JM Ellingford, R Wright, A Taylor, SS Bhaskar, ... Journal of Medical Genetics 59 (4), 393-398, 2022 | 19 | 2022 |
| 30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes ER Woodward, K Green, GJ Burghel, M Bulman, T Clancy, F Lalloo, ... European Journal of Human Genetics 30 (4), 413-419, 2022 | 17 | 2022 |
| Levels of DNA Methylation Vary at CpG Sites across the BRCA1 Promoter, and Differ According to Triple Negative and “BRCA-Like” Status, in Both Blood and … SL Daniels, GJ Burghel, P Chambers, S Al-Baba, DD Connley, IW Brock, ... PLoS One 11 (7), e0160174, 2016 | 17 | 2016 |
