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George Burghel
George Burghel
University of Manchester
Verified email at MFT.nhs.uk
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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
2672017
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
662020
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
632020
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
602021
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
432021
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
362021
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
352013
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
322020
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
312021
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
272023
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
272019
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
252020
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, 2015
202015
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
182022
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
182018
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
172016
Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM …
DJ Hampshire, GJ Burghel, J Goudemand, LCS Bouvet, JCJ Eikenboom, ...
Haematologica 95 (12), 2163, 2010
172010
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
152021
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
142022
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
142022
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