G. Burghel

发表

Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.

Olivia Alder, Alastair Droop, Lucy F. Stead, 2017, Cancer cell.

Inherited and Somatic Genetic factors in Colorectal Cancer Development

G. Burghel, 2011 .

Discordant Haplotype Sequencing Identifies Functional Variants at the 2 q 33 Breast Cancer Risk Locus Journal Item

Kristofer C. Berrett, Albright, N. Camp, 2019 .

Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus.

N. Camp, L. Cannon-Albright, A. Cox, 2016, Cancer research.

Discordant Haplotype Sequencing Identifies FunctionalVariantsatthe2q33BreastCancerRisk Locus

N. Camp, L. Cannon-Albright, A. Cox, 2016 .

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

D. Baralle, S. Ellard, D. Eccles, 2020, Journal of Medical Genetics.

BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?

G. Jayson, F. Lalloo, G. Burghel, 2022, British Journal of Cancer.

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

D. Evans, F. Lalloo, G. Burghel, 2019, European urology oncology.

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

A. Howell, D. Eccles, D. Evans, 2021, Journal of Medical Genetics.

Genomic Subtypes of Non-Invasive Bladder Cancer with Distinct Metabolic Profile, Clinical Outcome and Female Gender Bias in KDM6A Mutation Frequency

Lucy F. Stead, D. Gordenin, L. Klimczak, 2017 .

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 Tumour DNA

S. Cross, A. Cox, I. Brock, 2016, PloS one.

The importance of neoplastic cell content assessment and enrichment by macrodissection in cancer pharmacogenetic testing

G. Burghel, A. Quinn, A. Wallace, 2019, Journal of Clinical Pathology.

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

A. Howell, D. Eccles, E. Harkness, 2020, Journal of Medical Genetics.

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).

S. Ellard, D. Eccles, C. Turnbull, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer

G. Jayson, F. Lalloo, D. G. Evans, 2022, Journal of Clinical Pathology.

Replication catastrophe is responsible for intrinsic PAR glycohydrolase inhibitor-sensitivity in patient-derived ovarian cancer models

Stephen S. Taylor, D. Spierings, F. Foijer, 2021, Journal of Experimental & Clinical Cancer Research.

Replication catastrophe is responsible for intrinsic PAR glycohydrolase inhibitor-sensitivity in patient-derived ovarian cancer models

Stephen S. Taylor, D. Spierings, F. Foijer, 2021, Journal of experimental & clinical cancer research : CR.

Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes

Stephen S. Taylor, G. Burghel, I. Lin, 2021, Genome medicine.

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

A. Howell, W. Newman, E. Harkness, 2021, Genetics in Medicine.

Molecular analysis of CAG repeat length of the androgen receptor gene and Y chromosome microdeletions among Jordanian azoospermic infertile males

G. Burghel, K. Bodoor, A. Elbetieha, 2018, Andrologia.

Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer

K. Harrington, G. Betts, G. Burghel, 2022, Cancers.

A living biobank of ovarian cancer ex vivo models reveals profound mitotic heterogeneity

Stephen S. Taylor, G. Jayson, D. Spierings, 2020, Nature Communications.

Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.

M. Berger, C. Bandlamudi, D. Mandelker, 2022, Annals of oncology : official journal of the European Society for Medical Oncology.

Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

G. Jayson, F. Lalloo, G. Burghel, 2023, Cancers.

Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers

A. Howell, E. Harkness, F. Lalloo, 2022, Journal of Medical Genetics.

Screening by single-molecule Molecular Inversion Probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males

J. Veltman, G. Burghel, H. Sheth, 2021, Human fertility.

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

D. Eccles, C. Turnbull, J. Ware, 2021, Genetics in Medicine.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

J. Clayton-Smith, D. Evans, G. Hall, 2017, Journal of Medical Genetics.

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

S. Ellard, D. Eccles, C. Turnbull, 2020, Journal of Medical Genetics.

Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England

G. Jayson, D. Evans, E. Harkness, 2020, European Journal of Human Genetics.

Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

G. Jayson, D. Evans, G. Burghel, 2019, Journal of Medical Genetics.

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder

S. Garg, S. Banka, G. Burghel, 2020, American journal of medical genetics. Part A.

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-1VWD cohort

D. Hampshire, J. Goudemand, G. Burghel, 2010, Haematologica.

Early Adaptation of Colorectal Cancer Cells to the Peritoneal Cavity Is Associated with Activation of “Stemness” Programs and Local Inflammation

R. Bristow, D. Evans, C. Dive, 2020, Clinical Cancer Research.

Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms

M. Knowles, C. Hurst, G. Burghel, 2015, BioMed research international.

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

D. Evans, R. Legood, G. Burghel, 2021, Cancers.

30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes

D. Evans, F. Lalloo, T. Clancy, 2021, European Journal of Human Genetics.

TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes

D. Evans, V. Moreno, C. Lázaro, 2020, Gut.

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Journal of Medical Genetics.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Identification of Candidate Driver Genes in Common Focal Chromosomal Aberrations of Microsatellite Stable Colorectal Cancer

A. Cox, I. Brock, G. Burghel, 2013, PloS one.

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

C. Turnbull, J. Ware, N. Whiffin, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

A living biobank of ovarian cancer ex vivo models reveals profound mitotic heterogeneity

Stephen S. Taylor, G. Jayson, D. Spierings, 2020, Nature Communications.

Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation

G. Burghel, M. Smith, D. Evans, 2023, Journal of Medical Genetics.

Mutational screen of a panel of tumor genes in a case report of mucoepidermoid carcinoma of the breast from Jordan

G. Burghel, A. Wallace, A. Abdelnour, 2018, The breast journal.

Immunohistochemical detection of BRAF V600E mutation status in anaplastic thyroid carcinoma

D. Nonaka, G. Burghel, A. Wallace, 2016, Histopathology.

Genome-Wide Analysis of Circulating Cell-Free DNA Copy Number Detects Active Melanoma and Predicts Survival.

A. Cox, I. Brock, D. Hughes, 2018, Clinical chemistry.

Multi-maintenance olaparib therapy in relapsed, germline BRCA1/2-mutant high-grade serous ovarian cancer (MOLTO): a phase II trial.

G. Jayson, C. Dive, G. Burghel, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

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

A. Antoniou, D. Eccles, C. Turnbull, 2022, Journal of Medical Genetics.

BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?

G. Jayson, F. Lalloo, G. Burghel, 2022, British Journal of Cancer.

A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE

S. Banka, G. Burghel, J. Ellingford, 2023, medRxiv.

Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status

S. Banka, G. Burghel, W. Whittaker, 2019, Journal of Medical Genetics.

Serum Biomarkers for Chemotherapy Cardiotoxicity Risk Detection of Breast Cancer Patients

G. Burghel, D. Hasan, I. Natsheh, 2021, Asian Pacific journal of cancer prevention : APJCP.

Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.

Lucy F. Stead, D. Gordenin, L. Klimczak, 2017, Cancer cell.

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. Harkness, F. Lalloo, G. Burghel, 2023, Journal of Medical Genetics.

Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis

G. Burghel, M. Smith, C. Perez-Becerril, 2024, Journal of Medical Genetics.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

A. Pagnamenta, C. Shaw-Smith, N. Canham, 2024, American journal of human genetics.

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2

F. Lalloo, G. Burghel, E. Woodward, 2024, Journal of medical genetics.

Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre

F. Lalloo, G. Burghel, E. Woodward, 2024, Familial cancer.

Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer

E. Harkness, F. Lalloo, G. Burghel, 2023, Journal of Medical Genetics.

Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus.

Kristofer C. Berrett, N. Camp, L. Cannon-Albright, 2016, Cancer research.

A randomised phase 2 study of intermittent versus continuous dosing of dabrafenib plus trametinib in patients with BRAFV600 mutant advanced melanoma (INTERIM).

G. Burghel, Alimu Dayimu, A. Waterston, 2023, European journal of cancer.

Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer.

G. Burghel, A. Clamp, H. Schlecht, 2024, British journal of cancer.