George Joseph Burghel (George J Burghel)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 48

Top Venues

Journal of medical genetics

European journal of human genetics : EJHG

Cancers

Journal of clinical pathology

This page only lists publications with an associated author ORCID identifier.

Publications

George Joseph Burghel, Jamie M Ellingford, Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt, Jonathan Edgerley, Farah Naeem, Siddharth Banka
Systematic reanalysis of copy number losses of uncertain clinical significance. Journal of medical genetics 61 (7) (2024)
Cristina Perez-Becerril, George Joseph Burghel, Claire Hartley, Charles F Rowlands, Dafydd Gareth Evans, Miriam Jane Smith
Improved sensitivity for detection of pathogenic variants in familial NF2 -related schwannomatosis. Journal of medical genetics 61 (5) (2024)
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George Joseph Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Catherine Huntley
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of medical genetics 61 (4) (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG 32 (5) (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG 32 (5) (2024)
Dafydd Gareth Evans, Sacha J Howell, George Joseph Burghel, Claire Forde, Fiona Lalloo, Miriam Jane Smith, Anthony Howell, Ashu Gandhi, Emma Roisin Woodward
Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years? Journal of medical genetics (2024)
Emma Roisin Woodward, Fiona Lalloo, Claire Forde, Sarah Pugh, George Joseph Burghel, Helene Schlecht, Elaine F Harkness, Anthony Howell, Sacha J Howell, Ashu Gandhi, D Gareth Evans
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. Journal of medical genetics 61 (4) (2024)
Charlie F Rowlands, Alice Garrett, Sophie Allen, Miranda Durkie, George Joseph Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Terri P McVeigh, Helen Hanson, Nicola Whiffin, Michael Jones, Catherine Huntley, null null
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification. Journal of medical genetics (2024)
Dafydd Gareth Evans, George Joseph Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 . Journal of medical genetics (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG 32 (5) (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George Joseph Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Catherine Huntley
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of medical genetics 61 (4) (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG 32 (5) (2024)
Dafydd Gareth Evans, George Joseph Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 . Journal of medical genetics 61 (9) (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics (2024)
Cristina Perez-Becerril, George Joseph Burghel, Claire Hartley, Charles F Rowlands, Dafydd Gareth Evans, Miriam Jane Smith
Improved sensitivity for detection of pathogenic variants in familial NF2 -related schwannomatosis. Journal of medical genetics (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG 32 (5) (2024)
George Joseph Burghel, Jamie M Ellingford, Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt, Jonathan Edgerley, Farah Naeem, Siddharth Banka
Systematic reanalysis of copy number losses of uncertain clinical significance. Journal of medical genetics 61 (7) (2024)
George Joseph Burghel, Jamie M Ellingford, Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt, Jonathan Edgerley, Farah Naeem, Siddharth Banka
Systematic reanalysis of copy number losses of uncertain clinical significance. Journal of medical genetics (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG (2024)
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George Joseph Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Catherine Huntley
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of medical genetics 61 (4) (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics 61 (9) (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics 61 (9) (2024)
Dafydd Gareth Evans, George Joseph Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 . Journal of medical genetics 61 (9) (2024)
Miriam Jane Smith, Cristina Perez-Becerril, Mwee van der Meer, George Joseph Burghel, Sarah J Waller, Megan Carney, Sancha Bunstone, Katherine Fryer, Naomi L Bowers, Claire L Hartley, Philip T Smith, Scott A Rutherford, Simon R Freeman, Simon K W Lloyd, Omar N Pathmanaban, Andrew Thomas King, Dorothy Halliday, Chris Duff, D Gareth Evans
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2 -related schwannomatosis. Journal of medical genetics (2024)
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George Joseph Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. European journal of human genetics : EJHG 32 (5) (2024)
Emma Roisin Woodward, Fiona Lalloo, Claire Forde, Sarah Pugh, George Joseph Burghel, Helene Schlecht, Elaine F Harkness, Anthony Howell, Sacha J Howell, Ashu Gandhi, D Gareth Evans
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. Journal of medical genetics 61 (4) (2024)
Cristina Perez-Becerril, George Joseph Burghel, Claire Hartley, Charles F Rowlands, Dafydd Gareth Evans, Miriam Jane Smith
Improved sensitivity for detection of pathogenic variants in familial NF2 -related schwannomatosis. Journal of medical genetics 61 (5) (2024)
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George Joseph Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Catherine Huntley
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of medical genetics 61 (4) (2024)
Robert D Morgan, George Joseph Burghel, Nicola Flaum, Michael Bulman, Philip Smith, Andrew R Clamp, Jurjees Hasan, Claire L Mitchell, Zena Salih, Emma R Woodward, Fiona Lalloo, Emma J Crosbie, Richard John Edmondson, Helene Schlecht, Gordon C Jayson, Dafydd Gareth Evans
Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older? Cancers 15 (3) (2023)
Dafydd Gareth Evans, George Joseph Burghel, Miriam Jane Smith
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation. Journal of medical genetics (2023)
Robert D Morgan, Andrew R Clamp, Daniel J White, Marcus Price, George Joseph Burghel, W David J Ryder, Reem D Mahmood, Alexander D Murphy, Jurjees Hasan, Claire L Mitchell, Zena Salih, Chelsey Wheeler, Emma Buckley, Joanna Truelove, Georgia King, Yasmina Ainaoui, Sanjeev S Bhaskar, Joseph Shaw, Dafydd Gareth Evans, Bedirhan Kilerci, Simon P Pearce, Ged Brady, Caroline Dive, James P B O'Connor, Andrew J Wallace, Dominic G Rothwell, Richard John Edmondson, Gordon C Jayson
Multi-maintenance olaparib therapy in relapsed, germline BRCA1/2-mutant high-grade serous ovarian cancer (MOLTO): a phase II trial. Clinical cancer research : an official journal of the American Association for Cancer Research (2023)
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George Joseph Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Catherine Huntley
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of medical genetics (2023)
Robert D Morgan, George Joseph Burghel, Nicola Flaum, Michael Bulman, Philip Smith, Andrew R Clamp, Jurjees Hasan, Claire L Mitchell, Zena Salih, Emma R Woodward, Fiona Lalloo, Emma J Crosbie, Richard John Edmondson, Helene Schlecht, Gordon C Jayson, Dafydd Gareth Evans
Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older? Cancers 15 (3) (2023)
Emma Roisin Woodward, Fiona Lalloo, Claire Forde, Sarah Pugh, George Joseph Burghel, Helene Schlecht, Elaine F Harkness, Anthony Howell, Sacha J Howell, Ashu Gandhi, D Gareth Evans
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. Journal of medical genetics (2023)
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George Joseph Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Catherine Huntley
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of medical genetics (2023)
Dafydd Gareth Evans, George Joseph Burghel, Helene Schlecht, Elaine F Harkness, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer. Journal of medical genetics (2023)
Dafydd Gareth Evans, Siva Sithambaram, Elke Maria van Veen, George Joseph Burghel, Helene Schlecht, Elaine F Harkness, Helen Byers, Jamie M Ellingford, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers. Journal of medical genetics (2022)
Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George Joseph Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul David Peter Pharoah, Marc Tischkowitz, Antonis C Antoniou, Dafydd Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull
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. Journal of medical genetics (2022)
Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George Joseph Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul David Peter Pharoah, Marc Tischkowitz, Antonis C Antoniou, Dafydd Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull
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. Journal of medical genetics (2022)
Dafydd Gareth Evans, Elke Maria van Veen, Helen J Byers, Sarah J Evans, George Joseph Burghel, Emma Roisin Woodward, Elaine F Harkness, Diana M Eccles, Stephanie L Greville-Haygate, Jamie M Ellingford, Naomi L Bowers, Marta Pereira, Andrew J Wallace, Sasha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer. Journal of medical genetics (2021)
Leslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, Ronnie Wright, Algy Taylor, Sanjeev S Bhaskar, Christopher Campbell, Harriet Jackson, Adele Fairclough, Abigail Rousseau, George Joseph Burghel, Laura Dutton, Siddharth Banka, Tracy A Briggs, Jill Clayton-Smith, Sofia Douzgou Houge, Elizabeth A Jones, Helen M Kingston, Bronwyn Kerr, John Ealing, Suresh Somarathi, Kate E Chandler, Helen M Stuart, Emma Mm Burkitt-Wright, William G Newman, Iain A Bruce, Graeme C Black, David Gokhale
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. Journal of medical genetics (2021)
Mariona Terradas, Pilar Mur, Sami Belhadj, Emma Roisin Woodward, George Joseph Burghel, Pau M Muñoz-Torres, Isabel Quintana, Matilde Navarro, Joan Brunet, Conxi Lazaro Garcia, Marta Pineda, Victor Moreno, Gabriel Capellá Munar, Dafydd Gareth Evans, Laura Valle
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes. Gut 70 (6) (2020)
Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George Joseph Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, Dafydd Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull, null null
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. Journal of medical genetics 57 (12) (2020)
Alice Garrett, Miranda Durkie, Alison Callaway, George Joseph Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull, null null
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. Journal of medical genetics 58 (5) (2020)
George Joseph Burghel, Unzela Khan, Wei-Yu Lin, William Whittaker, Siddharth Banka
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status. Journal of medical genetics 57 (1) (2019)
George Joseph Burghel, Anne Marie Quinn, Philip Smith, Jade Harris, Catherine Banks, Andrew Wallace
The importance of neoplastic cell content assessment and enrichment by macrodissection in cancer pharmacogenetic testing. Journal of clinical pathology 72 (10) (2019)

George Joseph Burghel.css-eqlu8i{font-size:small;padding-left:4px;} (George J Burghel)

Publication Activity (10 Years)

Top Topics

Top Venues

George Joseph Burghel (George J Burghel)