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1دورية أكاديمية
المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME
المصدر: American journal of human genetics. 104(6):1210-1222
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Wigdor, EM, Samocha, KE, Eberhardt, RY, Chundru, VK, Firth, HV, Wright, CF, Hurles, ME, Martin, HC
مصطلحات موضوعية: Gene expression, Genetic association study, Genetics, Haplotypes, Medical genetics, Medical genomics, Mutation, Neurodevelopmental disorders, Quantitative trait loci, Rare variants, Transcriptomics
وصف الملف: 8708-; Electronic
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/38622173Test; Sci Rep, 14(1); orcid:0000-0002-6348-5565 (Chundru, V Kartik); ScopusID: 57210139545 (Chundru, V Kartik); orcid:0000-0003-2958-5076 (Wright, Caroline F); ScopusID: 35175170800 (Wright, Caroline F); Vol. 14, No. 1, article 8708; https://doi.org/10.1038/s41598-024-58894-yTest; HICF-1009-003; WT098051; 220540/Z/20/A; http://hdl.handle.net/10871/136368Test; Scientific Reports
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3دورية أكاديمية
المؤلفون: Cannon, SJ, Hall, T, Hawkes, G, Colclough, K, Boggan, RM, Wright, CF, Pickett, SJ, Hattersley, AT, Weedon, MN, Patel, KA
مصطلحات موضوعية: UK biobank, maternally inherited diabetes and deafness, mitochondria, mitochondrial disease
وصف الملف: ddad194-
العلاقة: https://biobank.ctsu.ox.ac.ukTest; https://www.ncbi.nlm.nih.gov/pubmed/37988592Test; Hum Mol Genet; orcid:0000-0002-3367-789X (Hawkes, Gareth); orcid:0000-0003-2958-5076 (Wright, Caroline F); ScopusID: 35175170800 (Wright, Caroline F); orcid:0000-0001-5620-473X (Hattersley, Andrew T); orcid:0000-0002-6174-6135 (Weedon, Michael N); orcid:0000-0002-9240-8104 (Patel, Kashyap A); Published online 21 November 2023; https://doi.org/10.1093/hmg/ddad194Test; 19/0005994; 21/0006335; MR/T00200X/1; 219606/Z/19/Z; WT098395/Z/12/Z; 204709/Z/16/Z; 203105/Z/16/Z; http://hdl.handle.net/10871/134964Test; Human Molecular Genetics
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4دورية أكاديمية
المؤلفون: Jackson, L, Weedon, MN, Green, HD, Mallabar-Rimmer, B, Harrison, JW, Wood, AR, Ruth, KS, Tyrrell, J, Wright, CF
مصطلحات موضوعية: BRCA, Family history, Inheritance, Lynch syndrome, Penetrance
وصف الملف: 102159-; Electronic-eCollection
العلاقة: https://github.com/hdg204/Rdna-nexusTest; https://www.ncbi.nlm.nih.gov/pubmed/37936660Test; EClinicalMedicine, 64; orcid:0000-0002-0260-5295 (Jackson, Leigh); orcid:0000-0002-5105-184X (Green, Harry D); ScopusID: 57208081135 (Green, Harry D); orcid:0000-0002-8314-9411 (Harrison, Jamie W); orcid:0000-0003-4966-9170 (Ruth, Kate S); ScopusID: 56661968700 (Ruth, Kate S); orcid:0000-0002-9256-6065 (Tyrrell, Jess); orcid:0000-0003-2958-5076 (Wright, Caroline F); ScopusID: 35175170800 (Wright, Caroline F); Vol. 64, article 102159; https://doi.org/10.1016/j.eclinm.2023.102159Test; MR/T00200X/1; http://hdl.handle.net/10871/134907Test; EClinicalMedicine
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5دورية أكاديمية
المؤلفون: Gunning, AC, Wright, CF
مصطلحات موضوعية: Variant classification, missense variant, protein domain, Bayesian, genomic medicine
العلاقة: orcid:0000-0003-2958-5076 (Wright, Caroline); Vol. 15, article 110; WT200990/Z/16/Z; WT200990/A/16/Z; http://hdl.handle.net/10871/134736Test; Genome Medicine
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6دورية أكاديمية
المؤلفون: Shekari, S, Stankovic, S, Gardner, EJ, Hawkes, G, Kentistou, KA, Beaumont, RN, Mörseburg, A, Wood, AR, Prague, JK, Mishra, GD, Day, FR, Baptista, J, Wright, CF, Weedon, MN, Hoffmann, ER, Ruth, KS, Ong, KK, Perry, JRB, Murray, A
وصف الملف: 1692-1699; Print-Electronic
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/37349538Test; https://biobank.ndph.ox.ac.uk/showcaseTest/; https://www.ukbiobank.ac.uk/enable-your-research/apply-for-accessTest; https://panelapp.genomicsengland.co.uk/panels/155Test/; Nat Med, 29(7); orcid:0000-0002-3367-789X (Hawkes, Gareth); orcid:0000-0003-0750-8248 (Beaumont, Robin N); ScopusID: 57156164500 (Beaumont, Robin N); orcid:0000-0003-1726-948X (Wood, Andrew R); orcid:0000-0003-2958-5076 (Wright, Caroline F); orcid:0000-0003-4966-9170 (Ruth, Katherine S); ScopusID: 56661968700 (Ruth, Katherine S); orcid:0000-0002-2351-2522 (Murray, Anna); ScopusID: 57215409372 (Murray, Anna); Vol. 29(7), pp. 1692-1699; https://doi.org/10.1038/s41591-023-02405-5Test; MC_UU_12015/2; MC_UU_00006/2; MC_UU_12015/1; MC_UU_00006/1; MR/T00200X/1; C18281/A29019; 875534; APP2009577; 724718; NNF15COC0016662; NNF0066487; 0134-00299B; 6110-00344B; http://hdl.handle.net/10871/133717Test; Nature Medicine
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7دورية أكاديمية
المؤلفون: Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danacek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV
مصطلحات موضوعية: genomic medicine, rare disease
العلاقة: orcid:0000-0003-2958-5076 (Wright, Caroline); Published online 12 April 2023; HICF-1009-003; WT098051; WT223718/Z/21/Z; http://hdl.handle.net/10871/132594Test; New England Journal of Medicine
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8دورية أكاديمية
المؤلفون: Cannon, S, Williams, M, Gunning, AC, Wright, CF
مصطلحات موضوعية: Pathogenicity, In-frame indels, Variant interpretation, Pathogenicity prediction
العلاقة: BMC Medical Genomics, 16(1); orcid:0000-0003-2958-5076 (Wright, CF); Vol. 16 (1), article 36; https://doi.org/10.1186/s12920-023-01454-6Test; MR/T00200X/1; HICF-1009-003; WT098051; http://hdl.handle.net/10871/132591Test; BMC Medical Genomics
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9دورية أكاديمية
المؤلفون: De Franco, E, Owens, NDL, Montaser, H, Wakeling, MN, Saarimäki-Vire, J, Triantou, A, Ibrahim, H, Balboa, D, Caswell, RC, Jennings, RE, Kvist, JA, Johnson, MB, Muralidharan, S, Ellard, S, Wright, CF, Maddirevula, S, Alkuraya, FS, Hanley, NA, Flanagan, SE, Otonkoski, T, Hattersley, AT, Imbeault, M
العلاقة: https://www.diabetesgenes.org/current-research/genetic-beta-cell-research-bankTest/; https://github.com/owensnick/ZNF808Genomics.jlTest; https://doi.org/10.5281/zenodo.8375708Test; orcid:0000-0002-1437-7891 (De Franco, Elisa); Vol. 55, pp. 2075–2081; 224600/Z/21/Z; WT098395/Z/12/Z; 105636/Z/14/Z; 19/005971; 20/0006263; 206688/Z/17/Z; MR/000638/1; MR/S036121/1; 312437; 0057286; ALTF 295-2019; RG-2022-010; http://hdl.handle.net/10871/133654Test; Nature Genetics
الإتاحة: https://doi.org/10.1038/s41588-023-01565-xTest
https://doi.org/10.5281/zenodo.8375708Test
http://hdl.handle.net/10871/133654Test -
10دورية أكاديمية
المؤلفون: Sörmann, J, Schewe, M, Proks, P, Jouen-Tachoire, T, Rao, S, Riel, EB, Agre, KE, Begtrup, A, Dean, J, Descartes, M, Fischer, J, Gardham, A, Lahner, C, Mark, PR, Muppidi, S, Pichurin, PN, Porrmann, J, Schallner, J, Smith, K, Straub, V, Vasudevan, P, Willaert, R, Carpenter, EP, Rödström, KEJ, Hahn, MG, Müller, T, Baukrowitz, T, Hurles, ME, Wright, CF, Tucker, SJ
العلاقة: https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17Test; https://doi.org/10.1038/s41588-022-01185-xTest
الإتاحة: https://doi.org/10.1038/s41588-022-01185-xTest
https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17Test
النص الكامل