المؤلفون: Pagnamenta, A.T., Yu, J., Walker, S., Noble, A.J., Lord, J., Dutta, P., Hashim, M., Camps, C., Green, H., Devaiah, S., Nashef, L., Parr, J., Fratter, C., Ibnouf Hussein, R., Lindsay, S.J., Lalloo, F., Banos-Pinero, B., Evans, D., Mallin, L., Waite, A., Evans, J., Newman, A., Allen, Z., Perez-Becerril, C., Ryan, G., Hart, R., Taylor, J., Bedenham, T., Clement, E., Blair, E., Hay, E., Forzano, F., Higgs, J., Canham, N., Majumdar, A., McEntagart, M., Lahiri, N., Stewart, H., Smithson, S., Calpena, E., Jackson, A., Banka, S., Titheradge, H., McGowan, R., Rankin, J., Shaw-Smith, C., Evans, D.G., Burghel, G.J., Smith, M.J., Anderson, E., Madhu, R., Firth, H., Ellard, S., Brennan, P., Anderson, C., Taupin, D., Rogers, M.T., Cook, J.A., Durkie, M., East, J.E., Fowler, D., Wilson, L., Igbokwe, R., Gardham, A., Tomlinson, I., Baralle, D., Uhlig, H.H., Taylor, J.C.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/214063/1/The%20impact%20of%20inversions%20across%2033,924%20families%20with%20rare%20disease%20from%20a%20national%20genome%20sequencing%20project.pdfTest; Pagnamenta, A.T. orcid.org/0000-0001-7334-0602 , Yu, J., Walker, S. et al. (65 more authors) (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). pp. 1140-1164. ISSN 0002-9297

الإتاحة: https://eprints.whiterose.ac.uk/214063Test/
https://eprints.whiterose.ac.uk/214063/1/The%20impact%20of%20inversions%20across%2033,924%20families%20with%20rare%20disease%20from%20a%20national%20genome%20sequencing%20project.pdfTest

المؤلفون: Allen, S., Loong, L., Garrett, A., Torr, B., Durkie, M., Drummond, J., Callaway, A., Robinson, R., Burghel, G.J., Hanson, H., Field, J., McDevitt, T., McVeigh, T.P., Bedenham, T., Bowles, C., Bradshaw, K., Brooks, C., Butler, S., Del Rey Jimenez, J.C., Hawkes, L., Stinton, V., MacMahon, S., Owens, M., Palmer-Smith, S., Smith, K., Tellez, J., Valganon-Petrizan, M., Waskiewicz, E., Yau, M., Eccles, D.M., Tischkowitz, M., Goel, S., McRonald, F., Antoniou, A.C., Morris, E., Hardy, S., Turnbull, C.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/208847/1/jmg-2023-109645.full.pdfTest; Allen, S. orcid.org/0000-0003-4928-2240 , Loong, L., Garrett, A. orcid.org/0000-0001-8942-283X et al. (34 more authors) (2023) 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. jmg-2023. ISSN 0022-2593

الإتاحة: https://doi.org/10.1136/jmg-2023-109645Test
https://eprints.whiterose.ac.uk/208847Test/
https://eprints.whiterose.ac.uk/208847/1/jmg-2023-109645.full.pdfTest

المؤلفون: Kuzbari, Z., Bandlamudi, C., Loveday, C., Garrett, A., Mehine, M., George, A., Hanson, H., Snape, K., Kulkarni, A., Allen, S., Jezdic, S., Ferrandino, R., Westphalen, C.B., Castro, E., Rodon, J., Mateo, J., Burghel, G.J., Berger, M.F., Mandelker, D., Turnbull, C.

المساهمون: European Society for Medical Oncology

المصدر: Annals of Oncology ; volume 34, issue 3, page 215-227 ; ISSN 0923-7534

الإتاحة: https://doi.org/10.1016/j.annonc.2022.12.003Test
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المؤلفون: Strach, M.C., Chakrabarty, B., Nagaraju, R., Burghel, G.J., Schlecht, H., Mullamitha, S., Braun, M., O'Dwyer, S., Aziz, O., Barriuso, J.

المصدر: ESMO Open ; volume 8, issue 1, page 101032 ; ISSN 2059-7029

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1016/j.esmoop.2023.101032Test
https://api.elsevier.com/content/article/PII:S2059702923002521?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2059702923002521?httpAccept=text/plainTest

المؤلفون: Ramchander, N.C., Billy Graham Mariam, N., Rack, S., Shohdy, K., Ortega Franco, A., Thistlethwaite, F., Graham, D.M., Carter, L., Dransfield, S., Henshaw, A., Darlington, E., Rothwell, D., Burghel, G.J., Dive, C., Krebs, M.G., Cook, N.

المصدر: Annals of Oncology ; volume 33, page S712 ; ISSN 0923-7534

مصطلحات موضوعية: Oncology, Hematology

الإتاحة: https://doi.org/10.1016/j.annonc.2022.07.522Test
https://api.elsevier.com/content/article/PII:S0923753422023730?httpAccept=text/xmlTest
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المؤلفون: Cubuk, C., Garrett, A., Choi, S., King, L., Loveday, C., Torr, B., Burghel, G.J., Durkie, M., Callaway, A., Robinson, R., Drummond, J., Berry, I., Wallace, A., Eccles, D., Tischkowitz, M., Whiffin, N., Ware, J.S., Hanson, H., Turnbull, C.

المساهمون: Cancer Research UK

المصدر: Genetics in Medicine ; volume 23, issue 11, page 2096-2104 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01265-zTest
https://www.nature.com/articles/s41436-021-01265-z.pdfTest
https://www.nature.com/articles/s41436-021-01265-zTest
https://api.elsevier.com/content/article/PII:S1098360021051893?httpAccept=text/xmlTest
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المؤلفون: Morgan, R.D., Clamp, A.R., Ryder, W.D.J., Wheeler, C., Buckley, E., Truelove, J., Murphy, A.D., Hasan, J., Mitchell, C.L., Burghel, G.J., White, D., Price, M., Bhaskar, S.S., Shaw, J., Dive, C., Wallace, A.J., O'Connor, J.P., Rothwell, D., Edmondson, R.J., Jayson, G.C.

المصدر: Annals of Oncology ; volume 32, page S733-S734 ; ISSN 0923-7534

مصطلحات موضوعية: Oncology, Hematology

الإتاحة: https://doi.org/10.1016/j.annonc.2021.08.1174Test
https://api.elsevier.com/content/article/PII:S0923753421034037?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0923753421034037?httpAccept=text/plainTest

المؤلفون: Netto, D., Wang, X., Barnes, B., Clamp, A.R., Hasan, J., Mitchell, C.L., Salih, Z., Winter-Roach, B., Edmondson, R., Shaw, J., Desai, S., Schlecht, H., Burghel, G.J., Taylor, S., Evans, G., Jayson, G.C., Morgan, R.D.

المصدر: Annals of Oncology ; volume 34, page S527-S528 ; ISSN 0923-7534

مصطلحات موضوعية: Oncology, Hematology

الإتاحة: https://doi.org/10.1016/j.annonc.2023.09.1960Test
https://api.elsevier.com/content/article/PII:S0923753423027977?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0923753423027977?httpAccept=text/plainTest

المؤلفون: Gupta, A., Matin, R.N., Dayimu, A., Nobes, J., Board, R.E., Payne, M., Rao, A.R., Fusi, A., Danson, S., Eccles, B.K., Carser, J., O'Hanlon Brown, C., Steven, N., Burghel, G.J., Demain, L., Baker, E.C., Wulff, J., Twelves, S., Middleton, M.R., Corrie, P.G.

المصدر: Annals of Oncology ; volume 34, page S669-S670 ; ISSN 0923-7534

مصطلحات موضوعية: Oncology, Hematology

الإتاحة: https://doi.org/10.1016/j.annonc.2023.09.2245Test
https://api.elsevier.com/content/article/PII:S092375342303082X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S092375342303082X?httpAccept=text/plainTest

المؤلفون: Daniels, S.L., Burghel, G.J., Chambers, P., Al-Baba, S., Connley, D., Brock, I.W., Cramp, H.E., Dotsenko, O., Wilks, O., Wyld, L., Cross, S.S., Cox, A.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/102785/3/DNAMethylation.PDFTest; Daniels, S.L., Burghel, G.J., Chambers, P. et al. (9 more authors) (2016) 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. PLoS One. ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0160174Test
https://eprints.whiterose.ac.uk/102785Test/
https://eprints.whiterose.ac.uk/102785/3/DNAMethylation.PDFTest