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Author/Creator Burghel, George J

1. Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. Issue 12 (13th March 2020)

Authors:
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, Dian...
Other Names:
author non-byline.; Abbs Stephen author non-byline.; Tarpey Patrick author non-byline.; Bruty Jonathan author non-byline.; Drummond James author non-byline.; Whitworth James author non-byline.; Bowden Anne Ramsay author non-byline.; Tischowitz Marc author non-byline.; Maher Eamonn author non-byl...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 12(2020)
Page Start:
829
Record Type:
Journal Article
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2. CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing. Issue 2 (16th September 2017)

Authors:
Innes, Josie; Reali, Lisa; Clayton-Smith, Jill; Hall, Georgina; Lim, Derek HK; Burghel, George J; French, Kim; Khan, Unzela; Walker, Daniel; Lalloo, Fiona; Evans, D Gareth R; McMullan, Dominic; Maher, Eamonn R; Woodward, Emma R
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 2(2018)
Page Start:
89
Record Type:
Journal Article
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3. Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. Issue 5 (18th November 2020)

Authors:
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
Other Names:
author non-byline.; Abbs Stephen author non-byline.; Tarpey Patrick author non-byline.; Bruty Jonathan author non-byline.; Drummond James author non-byline.; Whitworth James author non-byline.; Bowden Anne Ramsay author non-byline.; Tischowitz Marc author non-byline.; Maher Eamonn author non-byl...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 5(2021)
Page Start:
297
Record Type:
Journal Article
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4. Genome-Wide Analysis of Circulating Cell-Free DNA Copy Number Detects Active Melanoma and Predicts Survival. (1st September 2018)

Authors:
Silva, Shobha; Danson, Sarah; Teare, Dawn; Taylor, Fiona; Bradford, James; McDonagh, Andrew J G; Salawu, Abdulazeez; Wells, Greg; Burghel, George J; Brock, Ian; Connley, Daniel; Cramp, Helen; Hughes, David; Tiffin, Nick; Cox, Angela
Journal:
Clinical chemistry
Issue:
Volume 64:Number 9(2018)
Page Start:
1338
Record Type:
Journal Article
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6. High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer. Issue 2 (23rd March 2021)

Authors:
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, F...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 2(2022)
Page Start:
115
Record Type:
Journal Article
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7. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. Issue 4 (20th April 2021)

Authors:
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, S...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 4(2022)
Page Start:
393
Record Type:
Journal Article
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9. Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases. Issue 5 (25th January 2019)

Authors:
Morgan, Robert D; Burghel, George J; Flaum, Nicola; Bulman, Michael; Clamp, Andrew R; Hasan, Jurjees; Mitchell, Claire L; Schlecht, Helene; Woodward, Emma R; Lallo, Fiona I; Crosbie, Emma J; Edmondson, Richard J; Wallace, Andrew J; Jayson, Gordon C; Evans, D Gareth R
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 5(2019)
Page Start:
301
Record Type:
Journal Article
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10. TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes. Issue 6 (30th September 2020)

Authors:
Terradas, Mariona; Mur, Pilar; Belhadj, Sami; Woodward, Emma R; Burghel, George J; Munoz-Torres, Pau M; Quintana, Isabel; Navarro, Matilde; Brunet, Joan; Lazaro, Conxi; Pineda, Marta; Moreno, Victor; Capella, Gabriel; Evans, D Gareth R; Valle, Laura
Journal:
Gut
Issue:
Volume 70:Issue 6(2021)
Page Start:
1139
Record Type:
Journal Article
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