Determining the current prevalence of β-thalassemia variants in Jordan

por Hasan, Diya, Al Tibi, Ahmad, Burghel, George, Abdelnour, Amid
Publicado 2023

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

por Burghel, George J., Hurst, Carolyn D., Watson, Christopher M., Chambers, Phillip A., Dickinson, Helen, Roberts, Paul, Knowles, Margaret A.
Publicado 2015

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

por Burghel, George J., Lin, Wei-Yu, Whitehouse, Helen, Brock, Ian, Hammond, David, Bury, Jonathan, Stephenson, Yvonne, George, Rina, Cox, Angela
Publicado 2013

Serum Biomarkers for Chemotherapy Cardiotoxicity Risk Detection of Breast Cancer Patients

por Hasan, Diya, Ismail, Yazan, Al Tibi, Ahmad, AL-Zeidaneen, Safaa A, Ode, Mohanad, Burghel, George J, Natsheh, Iyad, Abdelnour, Amid
Publicado 2021

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

por Rack, Samuel, Feeney, Laura, Hapuarachi, Brindley, Adderley, Helen, Woodhouse, Laura, Betts, Guy, Burghel, George J., Harrington, Kevin J., Metcalf, Robert
Publicado 2022

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

por Woodward, Emma R., Green, Kate, Burghel, George J., Bulman, Michael, Clancy, Tara, Lalloo, Fiona, Schlecht, Helene, Wallace, Andrew J., Evans, D. Gareth
Publicado 2021

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

por Barnes, Bethany M., Nelson, Louisa, Tighe, Anthony, Burghel, George J., Lin, I-Hsuan, Desai, Sudha, McGrail, Joanne C., Morgan, Robert D., Taylor, Stephen S.
Publicado 2021

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

por Batiha, Osamah, Burghel, George J, Alkofahi, Ayesha, Alsharu, Emad, Smith, Hannah, Alobaidi, Bilal, Al-Smadi, Mohammad, Awamlah, Nour, Hussein, Lama, Abdelnour, Amid, Sheth, Harsh, Veltman, Joris A
Publicado 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 Tumour DNA

por Daniels, Sarah L., Burghel, George J., Chambers, Philip, Al-Baba, Shadi, Connley, Daniel D., Brock, Ian W., Cramp, Helen E., Dotsenko, Olena, Wilks, Octavia, Wyld, Lynda, Cross, Simon S., Cox, Angela
Publicado 2016

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

por Garrett, Alice, Durkie, Miranda, Callaway, Alison, Burghel, George J, Robinson, Rachel, Drummond, James, Torr, Bethany, Cubuk, Cankut, Berry, Ian R, Wallace, Andrew J, Ellard, Sian, Eccles, Diana M, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare
Publicado 2021

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

por Coulson-Gilmer, Camilla, Morgan, Robert D., Nelson, Louisa, Barnes, Bethany M., Tighe, Anthony, Wardenaar, René, Spierings, Diana C. J., Schlecht, Helene, Burghel, George J., Foijer, Floris, Desai, Sudha, McGrail, Joanne C., Taylor, Stephen S.
Publicado 2021

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

por Loong, Lucy, Cubuk, Cankut, Choi, Subin, Allen, Sophie, Torr, Beth, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Callaway, Alison, Burghel, George J., Drummond, James, Robinson, Rachel, Berry, Ian R., Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Hanson, Helen, Turnbull, Clare
Publicado 2022

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

por Morgan, Robert D., Burghel, George J., Flaum, Nicola, Bulman, Michael, Smith, Philip, Clamp, Andrew R., Hasan, Jurjees, Mitchell, Claire L., Salih, Zena, Woodward, Emma R., Lalloo, Fiona, Crosbie, Emma J., Edmondson, Richard J., Schlecht, Helene, Jayson, Gordon C., Evans, D. Gareth R.
Publicado 2023

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

por Woodward, Emma R., van Veen, Elke M., Forde, Claire, Harkness, Elaine F., Byers, Helen J., Ellingford, Jamie M., Burghel, George J., Schlech, Helene, Bowers, Naomi L., Wallace, Andrew J., Howell, Sacha J., Howell, Anthony, Lalloo, Fiona, Newman, William G., Smith, Miriam J., Gareth Evans, D.
Publicado 2021

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

por Evans, D Gareth, van Veen, Elke Maria, Byers, Helen J, Evans, Sarah J, Burghel, George J, Woodward, Emma Roisin, Harkness, Elaine F, Eccles, Diana M, Greville-Haygate, Stephanie L, Ellingford, Jamie M, Bowers, Naomi L, Pereira, Marta, Wallace, Andrew J, Howell, Sasha J, Howell, Anthony, Lalloo, Fiona, Newman, William G, Smith, Miriam Jane
Publicado 2022

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

por Nelson, Louisa, Tighe, Anthony, Golder, Anya, Littler, Samantha, Bakker, Bjorn, Moralli, Daniela, Murtuza Baker, Syed, Donaldson, Ian J., Spierings, Diana C. J., Wardenaar, René, Neale, Bethanie, Burghel, George J., Winter-Roach, Brett, Edmondson, Richard, Clamp, Andrew R., Jayson, Gordon C., Desai, Sudha, Green, Catherine M., Hayes, Andy, Foijer, Floris, Morgan, Robert D., Taylor, Stephen S.
Publicado 2020

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

por Garrett, Alice, Callaway, Alison, Durkie, Miranda, Cubuk, Cankut, Alikian, Mary, Burghel, George J, Robinson, Rachel, Izatt, Louise, Talukdar, Sabrina, Side, Lucy, Cranston, Treena, Palmer-Smith, Sheila, Baralle, Diana, Berry, Ian R, Drummond, James, Wallace, Andrew J, Norbury, Gail, Eccles, Diana M, Ellard, Sian, Lalloo, Fiona, Evans, D Gareth, Woodward, Emma, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare
Publicado 2020

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

por Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David
Publicado 2022

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

por Garrett, Alice, Loveday, Chey, King, Laura, Butler, Samantha, Robinson, Rachel, Horton, Carrie, Yussuf, Amal, Choi, Subin, Torr, Beth, Durkie, Miranda, Burghel, George J., Drummond, James, Berry, Ian, Wallace, Andrew, Callaway, Alison, Eccles, Diana, Tischkowitz, Marc, Tatton-Brown, Katrina, Snape, Katie, McVeigh, Terri, Izatt, Louise, Woodward, Emma R., Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Mazzarotto, Francesco, Whiffin, Nicola, Ware, James, Hanson, Helen, Pesaran, Tina, LaDuca, Holly, Buffet, Alexandre, Maher, Eamonn R., Turnbull, Clare
Publicado 2022

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

por Chandrasekaran, Dhivya, Sobocan, Monika, Blyuss, Oleg, Miller, Rowan E., Evans, Olivia, Crusz, Shanthini M., Mills-Baldock, Tina, Sun, Li, Hammond, Rory F. L., Gaba, Faiza, Jenkins, Lucy A., Ahmed, Munaza, Kumar, Ajith, Jeyarajah, Arjun, Lawrence, Alexandra C., Brockbank, Elly, Phadnis, Saurabh, Quigley, Mary, El Khouly, Fatima, Wuntakal, Rekha, Faruqi, Asma, Trevisan, Giorgia, Casey, Laura, Burghel, George J., Schlecht, Helene, Bulman, Michael, Smith, Philip, Bowers, Naomi L., Legood, Rosa, Lockley, Michelle, Wallace, Andrew, Singh, Naveena, Evans, D. Gareth, Manchanda, Ranjit
Publicado 2021