Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

G. Burghel · SciRah

Researcher profile · Semantic Scholar

G. Burghel

Share profile

G. Burghel — researcher profile on SciRah

h-index: 20
Works: 121
Citations: 1,670

Most-cited papers

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 +16 more
2022Annals of Oncology129 citations Open access
Semantic Scholar
Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes
Bethany M. Barnes, L. Nelson, A. Tighe, G. Burghel +5 more
2021Genome Medicine108 citations Open access
Semantic Scholar
A living biobank of ovarian cancer ex vivo models reveals profound mitotic heterogeneity
L. Nelson, A. Tighe, Anya Golder, Samantha Littler +18 more
2020Nature Communications75 citations Open access
Semantic Scholar
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
C. Çubuk, A. Garrett, S. Choi, L. King +16 more
2021Genetics in Medicine56 citations Open access
Semantic Scholar
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study
D. Chandrasekaran, Monika Sobočan, O. Blyuss, Rowan E. Miller +30 more
2021Cancers51 citations Open access
Semantic Scholar
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
A. Garrett, M. Durkie, A. Callaway, G. Burghel +11 more
2020Journal of Medical Genetics48 citations Open access
Semantic Scholar
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
A. Garrett, A. Callaway, M. Durkie, C. Çubuk +21 more
2020Journal of Medical Genetics45 citations Open access
Semantic Scholar
Replication catastrophe is responsible for intrinsic PAR glycohydrolase inhibitor-sensitivity in patient-derived ovarian cancer models
Camilla Coulson-Gilmer, R. Morgan, L. Nelson, B. Barnes +9 more
2021Journal of experimental & clinical cancer research : CR34 citations Open access
Semantic Scholar
Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases
Robert D. Morgan, G. Burghel, N. Flaum, M. Bulman +11 more
2019Journal of Medical Genetics32 citations Open access
Semantic Scholar
NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study
C. Forde, Miriam J. Smith, G. Burghel, N. Bowers +19 more
2024Journal of Medical Genetics31 citations Open access
Semantic Scholar
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes
E. Woodward, K. Green, G. Burghel, M. Bulman +5 more
2021European Journal of Human Genetics31 citations Open access
Semantic Scholar
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England
N. Flaum, Robert D. Morgan, G. Burghel, M. Bulman +17 more
2020European Journal of Human Genetics31 citations Open access
Semantic Scholar
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
L. Molina-Ramírez, Claire Kyle, J. Ellingford, R. Wright +24 more
2021Journal of Medical Genetics30 citations Open access
Semantic Scholar
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
A. Pagnamenta, Jing Yu, Susan Walker, Alexandra J. Noble +64 more
2024American Journal of Human Genetics27 citations Open access
Semantic Scholar
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, Sophie Allen, Subin Choi +19 more
2022Genetics in Medicine27 citations Open access
Semantic Scholar
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
T. McDevitt, M. Durkie, Norbert Arnold, G. Burghel +9 more
2024European Journal of Human Genetics23 citations Open access
Semantic Scholar
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer
D. Evans, E. V. van Veen, H. Byers, S. J. Evans +14 more
2021Journal of Medical Genetics22 citations Open access
Semantic Scholar
Early adaptation of colorectal cancer cells to the peritoneal cavity is associated with activation of ‘stemness’ programs and local inflammation
J. Barriuso, R. Nagaraju, Shreya Belgamwar, B. Chakrabarty +12 more
2020Clinical Cancer Research18 citations Open access
Semantic Scholar
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
Kari A. Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons +40 more
2022Brain : a journal of neurology17 citations Open access
Semantic Scholar
Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes
Bethany M. Barnes, L. Nelson, A. Tighe, G. Burghel +5 more
2021Genome Medicine17 citations Open access
Semantic Scholar
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes
M. Terradas, P. Mur, S. Belhadj, E. Woodward +11 more
2020Gut16 citations Open access
Semantic Scholar
Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
Robert D. Morgan, G. Burghel, N. Flaum, H. Schlecht +14 more
2024Genetics in Medicine14 citations Open access
Semantic Scholar
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer
E. Woodward, E. V. van Veen, C. Forde, E. Harkness +12 more
2021Genetics in Medicine14 citations Open access
Semantic Scholar
Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)
A. Garrett, Sophie Allen, M. Durkie, G. Burghel +12 more
2024medRxiv13 citations Open access
Semantic Scholar
Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer
S. Rack, L. Feeney, B. Hapuarachi, H. Adderley +5 more
2022Cancers12 citations Open access
Semantic Scholar
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
A. Garrett, C. Loveday, L. King, Samantha Butler +29 more
2021Genetics in Medicine12 citations Open access
Semantic Scholar
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder
R. Tinker, G. Burghel, S. Garg, M. Steggall +2 more
2020American Journal of Medical Genetics. Part A12 citations Open access
Semantic Scholar
A randomised phase 2 study of intermittent versus continuous dosing of dabrafenib plus trametinib in patients with BRAFV600 mutant advanced melanoma (INTERIM).
A. Dayimu, Avinash Gupta, R. Matin, J. Nobes +24 more
2023European Journal of Cancer11 citations Open access
Semantic Scholar
UK-based clinical testing programme for somatic and germline BRCA1/2, ATM and CDK12 mutations in prostate cancer: first results
D. G. Evans, G. Burghel, H. Schlecht, A. Sachdeva +5 more
2025BMJ Oncology10 citations Open access
Semantic Scholar
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records
L. Loong, C. Huntley, F. McRonald, F. Santaniello +47 more
2022Journal of Medical Genetics10 citations Open access
Semantic Scholar
Serum Biomarkers for Chemotherapy Cardiotoxicity Risk Detection of Breast Cancer Patients
D. Hasan, Yazan Ismail, Ahmad Al Tibi, Safaa A. al-Zeidaneen +4 more
2021Asian Pacific Journal of Cancer Prevention10 citations Open access
Semantic Scholar
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
L. Loong, C. Çubuk, Subin Choi, Sophie Allen +16 more
2021Genetics in Medicine10 citations Open access
Semantic Scholar
Multi-maintenance olaparib therapy in relapsed, germline BRCA1/2-mutant high-grade serous ovarian cancer (MOLTO): a phase II trial.
R. Morgan, A. Clamp, Daniel J White, M. Price +24 more
2023Clinical Cancer Research9 citations
Semantic Scholar
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing
D. G. Evans, E. Woodward, G. Burghel, S. Allen +20 more
2023Genetics in medicine open9 citations Open access
Semantic Scholar
Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK)
G. Burghel, J. Mason, Kevin R. Baker, K. Moloney +10 more
2025Journal of Medical Genetics8 citations Open access
Semantic Scholar
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre
D. G. Evans, K. Green, G. Burghel, C. Forde +3 more
2024Familial Cancer8 citations Open access
Semantic Scholar
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400
E. Woodward, F. Lalloo, C. Forde, Sarah Pugh +7 more
2023Journal of Medical Genetics8 citations
Semantic Scholar
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
D. Evans, G. Burghel, M. Smith
2023Journal of Medical Genetics8 citations Open access
Semantic Scholar
Screening by single-molecule Molecular Inversion Probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males
O. Batiha, G. Burghel, Ayesha Alkofahi, Emad Alsharu +8 more
2021Human Fertility8 citations Open access
Semantic Scholar
Validating data from Multiplex Assays of Variant Effect - A CanVIG-UK National Survey of NHS Clinical Scientists
Sophie Allen, A. Garrett, C. Rowlands, M. Durkie +17 more
2025American Journal of Human Genetics7 citations Open access
Semantic Scholar
EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours
R. Gallon, Liam McCormick, Angelica A. Saetta, Cristina Albuquerque +8 more
2025European Journal of Human Genetics7 citations Open access
Semantic Scholar
Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice
T. McVeigh, H. Hanson, G. Burghel, Clare Turnbull +1 more
2025Journal of Medical Genetics7 citations Open access
Semantic Scholar
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024)
B. Torr, N. Bell, R. McCarthy, M. Hamill +21 more
2024Journal of Medical Genetics7 citations Open access
Semantic Scholar
Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer
Robert D. Morgan, Xin Wang, Bethany M. Barnes, L. Spurgeon +16 more
2024British Journal of Cancer7 citations Open access
Semantic Scholar
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification
C. Rowlands, A. Garrett, S. Allen, M. Durkie +14 more
2024Journal of Medical Genetics7 citations Open access
Semantic Scholar
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers
D. Evans, S. Sithambaram, E. V. van Veen, G. Burghel +12 more
2022Journal of Medical Genetics7 citations Open access
Semantic Scholar
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
G. Burghel, Unzela Khan, Wei-Yu Lin, W. Whittaker +1 more
2019Journal of Medical Genetics7 citations Open access
Semantic Scholar
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
Miriam J. Smith, C. Perez-Becerril, Mwee van der Meer, G. Burghel +15 more
2024Journal of Medical Genetics6 citations Open access
Semantic Scholar
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2
D. G. Evans, G. Burghel, S. Howell, Sarah Pugh +4 more
2024Journal of Medical Genetics6 citations Open access
Semantic Scholar
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
D. Evans, G. Burghel, H. Schlecht, E. Harkness +8 more
2023Journal of Medical Genetics6 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

F. Lalloo×16
Invite
F. Lalloo — researcher profile on SciRah
E. Woodward×16
Invite
E. Woodward — researcher profile on SciRah
H. Schlecht×15
Invite
H. Schlecht — researcher profile on SciRah
M. Durkie×12
Invite
M. Durkie — researcher profile on SciRah

×11

Invite

R. Robinson — researcher profile on SciRah

Invite

A. Garrett — researcher profile on SciRah

Invite

A. Callaway — researcher profile on SciRah

Invite

C. Forde — researcher profile on SciRah

Invite

B. Torr — researcher profile on SciRah

Invite

J. Drummond — researcher profile on SciRah

Invite

D. Eccles — researcher profile on SciRah

M. Tischkowitz×7

Invite

M. Tischkowitz — researcher profile on SciRah