نتائج البحث - "Burghel, George J"

1

دورية أكاديمية

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

المؤلفون: Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H., Taylor, Jenny C.

وصف الملف: text; slideshow; spreadsheet

العلاقة: https://eprints.soton.ac.uk/490818/1/AJHG_INVERSION_MANUSCRIPT_V13.docxTest; https://eprints.soton.ac.uk/490818/2/AJHG_INVERSION_MANUSCRIPT_SUPPLEMENTARY_v7.pdfTest; https://eprints.soton.ac.uk/490818/3/Figure_1_results_overview_V2.pptxTest; https://eprints.soton.ac.uk/490818/4/Figure_2_RNA_V2.pptxTest; https://eprints.soton.ac.uk/490818/5/Figure_3_MSH2_Founder_V4.pptxTest; https://eprints.soton.ac.uk/490818/6/Figure_4_MECP2_ambiguous_V8.pptxTest; https://eprints.soton.ac.uk/490818/7/Figure_5_HOXD_odyssey_V3.pptxTest; https://eprints.soton.ac.uk/490818/8/Figure_6_APC_conundrumV5.pptxTest; https://eprints.soton.ac.uk/490818/9/Graphical_abstract_fifth_revision.pdfTest; https://eprints.soton.ac.uk/490818/10/TableS1_HI3genes_ClinGen.xlsxTest; https://eprints.soton.ac.uk/490818/11/TableS2_inversions_grouped_revision5.xlsxTest; Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H. and Taylor, Jenny C. (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6), 1140-1164. (doi:10.1016/j.ajhg.2024.04.018 ).

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2

دورية أكاديمية

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/489031/1/305.full.pdfTest; Allen, Sophie, Loong, Lucy, Garrett, Alice, Torr, Bethany, Durkie, Miranda, Drummond, James, Callaway, Alison, Robinson, Rachel, Burghel, George J., Hanson, Helen, Field, Joanne, McDevitt, Trudi, McVeigh, Terri P., Bedenham, Tina, Bowles, Christopher, Bradshaw, Kirsty, Brooks, Claire, Butler, Samantha, Del Rey Jimenez, Juan Carlos, Hawkes, Lorraine, Stinton, Victoria, MacMahon, Suzanne, Owens, Martina, Palmer-Smith, Sheila, Smith, Kenneth, Tellez, James, Valganon-Petrizan, Mikel, Waskiewicz, Erik, Yau, Michael, Eccles, Diana M., Tischkowitz, Marc, Goel, Shilpi, McRonald, Fiona, Antoniou, Antonis C., Morris, Eva, Hardy, Steven and Turnbull, Clare (2024) 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), 305-312. (doi:10.1136/jmg-2023-109645 ).

الإتاحة: https://doi.org/10.1136/jmg-2023-109645Test
https://eprints.soton.ac.uk/489031Test/
https://eprints.soton.ac.uk/489031/1/305.full.pdfTest

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3

دورية أكاديمية

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

المؤلفون: McDevitt, Trudi, Durkie, Miranda, Arnold, Norbert, Burghel, George J., Butler, Samantha, Claes, Kathleen, Logan, Peter, Robinson, Rachel, Sheils, Katie, Wolstenholme, Nicola, Hanson, Helen, Turnbull, Clare, Hume, Stacey

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01HVP22ZYX1RAXCBJ6V16DJ6S2Test; http://hdl.handle.net/1854/LU-01HVP22ZYX1RAXCBJ6V16DJ6S2Test; http://doi.org/10.1038/s41431-023-01507-5Test; https://biblio.ugent.be/publication/01HVP22ZYX1RAXCBJ6V16DJ6S2/file/01HVP253Z3FF3K7BR0ZBPC216HTest

الإتاحة: https://doi.org/10.1038/s41431-023-01507-5Test
https://biblio.ugent.be/publication/01HVP22ZYX1RAXCBJ6V16DJ6S2Test
http://hdl.handle.net/1854/LU-01HVP22ZYX1RAXCBJ6V16DJ6S2Test
https://biblio.ugent.be/publication/01HVP22ZYX1RAXCBJ6V16DJ6S2/file/01HVP253Z3FF3K7BR0ZBPC216HTest

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4

دورية أكاديمية

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

المؤلفون: Perez-Becerril, Cristina, Burghel, George J, Hartley, Claire, Rowlands, Charles F, Evans, D Gareth, Smith, Miriam J

مصطلحات موضوعية: Diagnostics

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/5/452Test; http://dx.doi.org/10.1136/jmg-2023-109586Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109586Test
http://jmg.bmj.com/cgi/content/short/61/5/452Test

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5

دورية أكاديمية

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

المؤلفون: Woodward, Emma R, Lalloo, Fiona, Forde, Claire, Pugh, Sarah, Burghel, George J, Schlecht, Helene, Harkness, Elaine F, Howell, Anthony, Howell, Sacha J, Gandhi, Ashu, Evans, D Gareth

مصطلحات موضوعية: Cancer genetics

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/4/385Test; http://dx.doi.org/10.1136/jmg-2023-109671Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109671Test
http://jmg.bmj.com/cgi/content/short/61/4/385Test

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6

دورية أكاديمية

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

المؤلفون: Evans, D Gareth, Burghel, George J, Howell, Sacha J, Pugh, Sarah, Forde, Claire, Howell, Anthony, Lalloo, Fiona, Woodward, Emma Roisin

المساهمون: Manchester Biomedical Research Centre, Cancer Research UK

المصدر: Journal of Medical Genetics ; page jmg-2023-109826 ; ISSN 0022-2593 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg-2023-109826Test

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7

دورية أكاديمية

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

المساهمون: NIHR Manchester Biomedical Research Centre, NIHR Maudsley Biomedical Research Centre, National Institute for Health and Care Research, Cancer Research UK

المصدر: Genetics in Medicine Open ; volume 2, page 100849 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016Test/j.gimo.2023.100849
https://api.elsevier.com/content/article/PII:S2949774423008580?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423008580?httpAccept=text/plainTest

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8

دورية أكاديمية

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

المؤلفون: Morgan, Robert D, Burghel, George J, Flaum, Nicola, Bulman, Michael, Smith, Philip, Clamp, Andrew R, Hasan, Jurjees, Mitchell, Claire, Salih, Zena, Woodward, Emma R, Lalloo, Fiona, Shaw, Joseph, Desai, Sudha, Crosbie, Emma J, Edmondson, Richard J, Schlecht, Helene, Wallace, Andrew J, Jayson, Gordon C, Evans, D. Gareth R.

المصدر: Morgan , R D , Burghel , G J , Flaum , N , Bulman , M , Smith , P , Clamp , A R , Hasan , J , Mitchell , C , Salih , Z , Woodward , E R , Lalloo , F , Shaw , J , Desai , S , Crosbie , E J , Edmondson , R J , Schlecht , H , Wallace , A J , Jayson , G C & Evans , D G R 2023 , ' Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by ....

مصطلحات موضوعية: Biomarkers, Tumor, GENETICS, Ovarian Neoplasms, ResearchInstitutes_Networks_Beacons/mcrc, name=Manchester Cancer Research Centre

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://research.manchester.ac.uk/en/publications/8e8cea47-e434-4516-92a8-ca911dc7638eTest

الإتاحة: https://doi.org/10.1136/jcp-2022-208369Test
https://research.manchester.ac.uk/en/publications/8e8cea47-e434-4516-92a8-ca911dc7638eTest
https://pure.manchester.ac.uk/ws/files/222647754/_Manuscript_tBRCA_LR_v5.docxTest
https://pure.manchester.ac.uk/ws/files/299224715/_Manuscript_tBRCA_LR_v5.docxTest
http://www.scopus.com/inward/record.url?scp=85134517893&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/f0b4bc28-8cbb-3b9b-a445-022fcc539057Test/
https://christie.openrepository.com/handle/10541/625390?show=fullTest

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9

دورية أكاديمية

Real-World Concordance between Germline and Tumour BRCA1/2 Status in Epithelial Ovarian Cancer

المؤلفون: Morgan, Robert d., Burghel, George j., Schlecht, Helene, Clamp, Andrew r., Hasan, Jurjees, Mitchell, Claire l., Salih, Zena, Shaw, Joseph, Desai, Sudha, Jayson, Gordon c., Woodward, Emma r., Evans, Gareth

المصدر: Morgan , R D , Burghel , G J , Schlecht , H , Clamp , A R , Hasan , J , Mitchell , C L , Salih , Z , Shaw , J , Desai , S , Jayson , G C , Woodward , E R & Evans , G 2023 , ' Real-World Concordance between Germline and Tumour BRCA1/2 Status in Epithelial Ovarian Cancer ' , Cancers , vol. 16 , no. 1 , 177 , pp. 177 . https://doi.org/10.3390/cancers16010177Test

مصطلحات موضوعية: ovarian cancer, germline, somatic, BRCA1, BRCA2

وصف الملف: application/pdf

العلاقة: https://research.manchester.ac.uk/en/publications/10bb6f0a-efe2-4d4a-8785-5492613fa380Test

الإتاحة: https://doi.org/10.3390/cancers16010177Test
https://research.manchester.ac.uk/en/publications/10bb6f0a-efe2-4d4a-8785-5492613fa380Test
https://pure.manchester.ac.uk/ws/files/290213661/cancers-16-00177_1_.pdfTest
https://www.mendeley.com/catalogue/2615bd7a-a865-3c68-9a0d-d55396b30eeeTest/

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10

دورية أكاديمية

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

المؤلفون: Evans, D Gareth, Burghel, George J, Schlecht, Helene, Harkness, Elaine F, Gandhi, Ashu, Howell, Sacha J, Howell, Anthony, Forde, Claire, Lalloo, Fiona, Newman, William G, Smith, Miriam Jane, Woodward, Emma Roisin

المصدر: Evans , D G , Burghel , G J , Schlecht , H , Harkness , E F , Gandhi , A , Howell , S J , Howell , A , Forde , C , Lalloo , F , Newman , W G , Smith , M J & Woodward , E R 2023 , ' Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer ' , Journal of Medical Genetics . https://doi.org/10.1136/jmg-2023-109196Test

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الإتاحة: https://doi.org/10.1136/jmg-2023-109196Test
https://research.manchester.ac.uk/en/publications/f25b9fb4-cc44-4af4-a68c-3c17a503ffd0Test
https://pure.manchester.ac.uk/ws/files/259223640/BilateralbreastcancerpaperRV1clean.docxTest

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