Zobrazeno 1 - 10
of 712
pro vyhledávání: '"Taylor Jc"'
Autor:
Vavoulis, DV, Pagnamenta, AT, Knight, SJL, Pentony, MM, Armstrong, M, Galizia, EC, Balestrini, S, Sisodiya, SM, Taylor, JC
In the context of pharmacogenomics, whole genome sequencing provides a powerful approach for identifying correlations between response variability to specific drugs and genomic polymorphisms in a population, in an unbiased manner. In this study, we e
Externí odkaz:
http://arxiv.org/abs/1909.10580
Akademický článek
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Autor:
Pagnamenta, AT, Diaz-Gonzalez, F, Banos-Pinero, B, Ferla, MP, Toosi, MB, Calder, AD, Karimiani, EG, Doosti, M, Wainwright, A, Wordsworth, P, Bailey, K, Ejeskär, K, Lester, T, Maroofian, R, Heath, KE, Tajsharghi, H, Shears, D, Taylor, JC, Genomics England Research Consortium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::27dc7d48816e8ca6008e56ded00414e2
https://openaccess.sgul.ac.uk/id/eprint/113896/1/jmedgenet-2021-108027.full.pdf
https://openaccess.sgul.ac.uk/id/eprint/113896/1/jmedgenet-2021-108027.full.pdf
Autor:
Stevenson, M, Pagnamenta, AT, Mack, HG, Savige, J, Giacopuzzi, E, Lines, KE, Taylor, JC, Thakker, RV
Publikováno v:
Journal of the Endocrine Society. 6
Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalo
Exploring the functional effect of a non-synonymous coding variant at the protein level requires multiple pieces of information to be interpreted appropriately. This is particularly important when embarking on the study of a potentially pathogenic va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857b2f8e0c1d7d9868cb2c614382b947
https://doi.org/10.1016/j.jmb.2022.167567
https://doi.org/10.1016/j.jmb.2022.167567
Autor:
Taylor, JC, Iversen, LH, Burke, D, Finan, PJ, Howell, S, Pedersen, L, Iles, MM, Morris, EJA, Quirke, P, the YCR BCIP Study Group
Aim Denmark and Yorkshire are demographically similar and both have undergone changes in their management of colorectal cancer to improve outcomes. The differential provision of surgical treatment, especially in the older age groups, may contribute t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6c211d679b2b42d158bdd01d5a1012b9
https://eprints.whiterose.ac.uk/178172/8/codi.15910.pdf
https://eprints.whiterose.ac.uk/178172/8/codi.15910.pdf
Autor:
Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Consortium, Genomics England Research, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
Publikováno v:
Am J Hum Genet
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare disease, including DD, remains v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8b
https://europepmc.org/articles/PMC8206381/
https://europepmc.org/articles/PMC8206381/
Autor:
Birch, RJ, Taylor, JC, Downing, A, Spencer, K, Finan, PJ, Audisio, RA, Carrigan, CM, Selby, PJ, Morris, EJA
Publikováno v:
European Journal of Surgical Oncology
Background: There is significant debate as to where to draw the line between undertreating older rectal cancer patients and minimising treatment risks. This study sought to examine the use of radical rectal cancer treatments and associated outcomes i
Autor:
Taylor, JC, Swinson, D, Seligmann, JF, Birch, RJ, Dewdney, A, Brown, V, Dent, J, Rossington, HL, Quirke, P, Morris, EJA, on behalf of YCR BCIP Study Group
Analysis of routine population‐based data has previously shown that patterns of surgical treatment for colorectal cancer can vary widely, but there is limited evidence available to determine if such variation is also seen in the use of chemotherapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::d0faa51ae6e98cb984c260c8be65780b
https://eprints.whiterose.ac.uk/164434/45/ijc.33261.pdf
https://eprints.whiterose.ac.uk/164434/45/ijc.33261.pdf
Autor:
Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ace190b5c0e052e8600958734973424
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf