المؤلفون: Lalloo, F, Kulkarni, A, Chau, C, Nielsen, M, Sheaff, M, Steele, J, van Doorn, R, Wadt, K, Hamill, M, Torr, B, Tischkowitz, M, Hanson, H

المصدر: European journal of human genetics : EJHG. 32(31):1261-1269

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:153526353Test

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.

مصطلحات موضوعية: Clinical Laboratory Techniques, Genetic Testing, Genetics, Genomics, Molecular Diagnostic Techniques

العلاقة: http://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=38154813Test; Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, et al. Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. J Med Genet. 2023.; Journal of medical genetics; https://hdl.handle.net/11287/623151Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109645Test
https://hdl.handle.net/11287/623151Test

المؤلفون: Huntley, C, Loong, L, Mallinson, C, Bethell, R, Rahman, T, Alhaddad, N, Tulloch, O, Zhou, X, Lee, J, Eves, P, GMSA Lynch Consortium, McRonald, F, Torr, B, Burn, J, Shaw, A, Morris, EJA, Monahan, K, Hardy, S, Turnbull, C

المساهمون: Pronin, Lucy Wai Yee, Turnbull, Clare

وصف الملف: 102465; application/pdf

العلاقة: 102465; EClinicalMedicine, 2024, 69 pp. 102465 - 102465; https://repository.icr.ac.uk/handle/internal/6155Test

الإتاحة: https://doi.org/10.1016/j.eclinm.2024.102465Test
https://repository.icr.ac.uk/handle/internal/6155Test

المؤلفون: Kohut, K, Morton, K, Hurley, K, Turner, L, Dale, C, Eastbrook, S, Gold, R, Henwood, K, Patton, S, Punjabi, R, White, H, Young, C, Young, J, Bancroft, E, Barnett, L, Cable, S, Connolly, G, Coad, B, Forman, A, Hanson, H, Kavanaugh, G, Sahan, K, Snape, K, Torr, B, Way, R, Winchester, E, Youngs, A, Eccles, D, Foster, C

المساهمون: Panel, CanGene-CanVar Patient Reference, Panel, International Lynch Decision Aid Stakeholder

العلاقة: https://ora.ox.ac.uk/objects/uuid:07a6237f-be13-4830-b28c-feafbb443dafTest; https://doi.org/10.1111/hex.13844Test

الإتاحة: https://doi.org/10.1111/hex.13844Test
https://ora.ox.ac.uk/objects/uuid:07a6237f-be13-4830-b28c-feafbb443dafTest

المؤلفون: Loong, L, Huntley, C, McRonald, F, Santaniello, F, Pethick, J, Torr, B, Allen, S, Tulloch, O, Goel, S, Shand, B, Rahman, T, Luchtenborg, M, Garrett, A, Barber, R, Bedenham, T, Bourn, D, Bradshaw, K, Brooks, C, Bruty, J, Burghel, GJ, Butler, S, Buxton, C, Callaway, A, Callaway, J, Drummond, J, Durkie, M, Field, J, Jenkins, L, McVeigh, TP, Mountford, R, Nyanhete, R, Petrides, E, Robinson, R, Scott, T, Stinton, V, Tellez, J, Wallace, AJ, Yarram-Smith, L, Sahan, K, Hallowell, N, Eccles, DM, Pharoah, P, Tischkowitz, M, Antoniou, AC, Evans, DG, Lalloo, F, Norbury, G, Burn, J, Morris, E, Hardy, S

العلاقة: https://ora.ox.ac.uk/objects/uuid:485ff0c5-b9d7-46f1-bc0e-33d5eac7d1e5Test; https://doi.org/10.1136/jmg-2022-108800Test

الإتاحة: https://doi.org/10.1136/jmg-2022-108800Test
https://ora.ox.ac.uk/objects/uuid:485ff0c5-b9d7-46f1-bc0e-33d5eac7d1e5Test

المؤلفون: Huntley, C, Torr, B, Sud, A, Rowlands, CF, Way, R, Snape, K, Hanson, H, Swanton, C, Broggio, J, Lucassen, A, McCartney, M, Houlston, RS, Hingorani, AD, Jones, ME, Turnbull, C

المصدر: The Lancet Oncology , 24 (6) pp. 658-668. (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10171406/1/1-s2.0-S1470204523001560-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10171406Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10171406/1/1-s2.0-S1470204523001560-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10171406Test/

المؤلفون: Hanson, H., Kulkarni, A., Loong, L., Kavanaugh, G., Torr, B., Allen, S., Ahmed, M., Antoniou, A. C., Cleaver, R., Dabir, T., Evans, D. G., Golightly, E., Jewell, R., Kohut, K., Manchanda, R., Murray, A., Murray, J., Ong, K. R., Rosenthal, A. N., Woodward, E. R., Eccles, D. M., Turnbull, C., Tischkowitz, M., Lalloo, F.

مصطلحات موضوعية: Clinical Decision-Making, Delivery of Health Care, Genetic Carrier Screening, Genetic Predisposition to Disease, Gynecology

العلاقة: http://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=36411032Test; J Med Genet. 2022 Nov 21:jmg-2022-108898. doi:10.1136/jmg-2022-108898.; https://rde.dspace-express.com/handle/11287/622743Test; Journal of medical genetics

الإتاحة: https://doi.org/10.1136/jmg-2022-108898Test
https://rde.dspace-express.com/handle/11287/622743Test

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: Torr, B, Jones, C, Choi, S, Allen, S, Kavanaugh, G, Garrett, A, MacMahon, S, Loong, L, Reay, A, Yuan, L, Valganon Petrizan, M, Monson, K, Perry, N, Fallowfield, L, Jenkins, V, Gold, R, Taylor, A, Gabe, R, Wiggins, J, Lucassen, A, Manchanda, R, Gandhi, A, George, A, Hubank, M, Kemp, Z, Evans, DG, Bremner, S, Turnbull, C

وصف الملف: application/pdf

العلاقة: http://sro.sussex.ac.uk/id/eprint/106806/1/Torr_BRCA-DIRECT_jmedgenet-2022-108655_Manuscript_v2_280622_CLEAN.pdfTest; http://sro.sussex.ac.uk/id/eprint/106806/4/jmg-2022-108655.full.pdfTest; Torr, B, Jones, C, Choi, S, Allen, S, Kavanaugh, G, Garrett, A, MacMahon, S, Loong, L, Reay, A, Yuan, L, Valganon Petrizan, M, Monson, K, Perry, N, Fallowfield, L, Jenkins, V, Gold, R, Taylor, A, Gabe, R, Wiggins, J, Lucassen, A, Manchanda, R, Gandhi, A, George, A, Hubank, M, Kemp, Z, Evans, DG, Bremner, S and Turnbull, C (2022) A digital pathway for genetic testing in UK NHS cancer patients: BRCA-DIRECT randomised study internal pilot. Journal of Medical Genetics. pp. 1-10. ISSN 0022-2593

الإتاحة: https://doi.org/10.1136/jmg-2022-108655Test
http://sro.sussex.ac.uk/id/eprint/106806Test/
http://sro.sussex.ac.uk/id/eprint/106806/1/Torr_BRCA-DIRECT_jmedgenet-2022-108655_Manuscript_v2_280622_CLEAN.pdfTest
http://sro.sussex.ac.uk/id/eprint/106806/4/jmg-2022-108655.full.pdfTest

المؤلفون: Garrett, A, Loveday, C, King, L, Butler, S, Robinson, R, Horton, C, Yussuf, A, Choi, S, Torr, B, Durkie, M, Burghel, GJ, Drummond, J, Berry, I, Wallace, A, Callaway, A, Eccles, D, Tischkowitz, M, Tatton-Brown, K, Snape, K, McVeigh, T, Izatt, L, Woodward, ER, Burnichon, N, Gimenez-Roqueplo, A-P, Mazzarotto, F, Whiffin, N, Ware, J, Hanson, H, Pesaran, T, LaDuca, H, Buffet, A, Maher, ER, Turnbull, C, Cancer Variant Interpretation Group UK (CanVIG-UK)

وصف الملف: application/pdf; application/vnd.ms-excel

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsxTest; Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; et al. Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; Burghel, GJ; Drummond, J; Berry, I; Wallace, A; Callaway, A; Eccles, D; Tischkowitz, M; Tatton-Brown, K; Snape, K; McVeigh, T; Izatt, L; Woodward, ER; Burnichon, N; Gimenez-Roqueplo, A-P; Mazzarotto, F; Whiffin, N; Ware, J; Hanson, H; Pesaran, T; LaDuca, H; Buffet, A; Maher, ER; Turnbull, C; Cancer Variant Interpretation Group UK (CanVIG-UK) (2022) Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med, 24 (1). pp. 41-50. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2021.08.004Test SGUL Authors: Snape, Katie Mairwen Greenwood

الإتاحة: https://doi.org/10.1016/j.gim.2021.08.004Test
https://openaccess.sgul.ac.uk/id/eprint/113968Test/
https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsxTest