Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Bunyan, David J."'
Akademický článek
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Autor:
Cross, Esther, Duncan-Flavell, Philippa J., Howarth, Rachel J., Crooks, Richard O., Thomas, N. Simon, Bunyan, David J.
Publikováno v:
In European Journal of Medical Genetics July 2020 63(7)
Autor:
Bunyan, David J.1,2 dbunyan@nhs.net, Saran, Mili3, Hobbs, James I.1, Anderson, David J.1, Duncan-Flavell, Philippa J.1, Howarth, Rachel J1, Callaway, Jonathan L. A.1,2, MacPherson, James N.1,2
Publikováno v:
Journal of Reproduction & Infertility. Oct-Dec2022, p296-302. 7p.
Autor:
Bunyan, David J., Thomas, N. Simon
Publikováno v:
In European Journal of Medical Genetics July 2019 62(7)
Autor:
Bunyan, David J.1,2 (AUTHOR) dbunyan@nhs.net, Gevers, Evelien3,4 (AUTHOR), Hobbs, James I.1 (AUTHOR), Duncan-Flavell, Philippa J.1 (AUTHOR), Howarth, Rachel J.1 (AUTHOR), Holder-Espinasse, Muriel5 (AUTHOR), Klee, Philippe6 (AUTHOR), Van-Heurk, Roxane7 (AUTHOR), Lemmens, Laure8 (AUTHOR), Carminho-Rodrigues, Maria Teresa7 (AUTHOR), Mohamed, Zainaba9 (AUTHOR), Goturu, Aruna10 (AUTHOR), Hughes, Claire R.4 (AUTHOR), Ajzensztejn, Michal11 (AUTHOR), Thomas, N. Simon1,2 (AUTHOR)
Publikováno v:
Egyptian Journal of Medical Human Genetics. 12/10/2021, Vol. 22 Issue 1, p1-9. 9p.
Akademický článek
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Akademický článek
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Autor:
Wai, Htoo A, Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G, Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N Simon, Bunyan, David J, Douglas, Andrew G L, Baralle, Diana, Naik, Swati, Ragge, Nicola, Cox, Helen, Morton, Jenny E., O'Driscoll, Mary, Lim, Derek, Osio, Deborah, Elmslie, Frances, Huber, Camilla, Hewitt, Julie, Brandon, Heidy, McEntagart, Meriel, Mansour, Sahar, Lahiri, Nayana, Dempsey, Esther, Manalo, Merrie, Homfray, Tessa, Saggar, Anand, Li, Jin, Barwell, Julian, Chandler, Kate E., Briggs, Tracy, Douzgou, Sofia, Adlard, Julian, Kraus, Alison, Mehta, Sarju, Watford, Amy, Donaldson, Alan, Low, Karen, Jones, Gabriela, Dixit, Abhijit, King, Elizabeth, Shannon, Nora, Kaliakatsos, Marios, Joss, Shelagh, Balasubramanian, Meena, Johnson, Diana, Everest, Sarah, Salter, Claire, Harrison, Victoria, Wise, Gillian, Torokwa, Audrey, Sands, Victoria, Pyle, Esther, Thomas, Tessy, Lachlan, Katherine, Foulds, Nicola, Lotery, Andrew, Hammans, Simon R., Pond, Emily, Horton, Rachel, Kharbanda, Mira, Hunt, David, Thomas, Charlene, Side, Lucy, Willis, Catherine, Greville-Heygate, Stephanie, Mawby, Rebecca, Mercer, Catherine, Temple, Karen, Kinning, Esther, Bojovic, Ognjen, Archer, L.
Publikováno v:
Genetics in Medicine
Wai, H A, Lord, J, Lyon, M, Gunning, A, Kelly, H, Cibin, P, Seaby, E G, Spiers-Fitzgerald, K, Lye, J, Ellard, S, Thomas, N S, Bunyan, D J, Douglas, A G L, Baralle, D, Splicing and disease working group, Naik, S, Ragge, N, Cox, H, Morton, J E, O'Driscoll, M, Lim, D, Osio, D, Elmslie, F, Huber, C, Hewitt, J, Brandon, H, McEntagart, M, Mansour, S, Lahiri, N, Dempsey, E, Manalo, M, Homfray, T, Saggar, A, Li, J, Barwell, J, Chandler, K E, Briggs, T, Douzgou, S, Adlard, J, Kraus, A, Mehta, S, Watford, A, Donaldson, A, Low, K, Jones, G, Dixit, A, King, E, Shannon, N, Kaliakatsos, M, Manalo, M, Joss, S, Balasubramanian, M, Johnson, D, Everest, S, Salter, C, Harrison, V, Wise, G, Torokwa, A, Sands, V, Pyle, E, Thomas, T, Lachlan, K, Foulds, N, Lotery, A, Douglas, A G L, Hammans, S R, Pond, E, Horton, R, Kharbanda, M, Hunt, D, Thomas, C, Side, L, Willis, C, Greville-Heygate, S, Mawby, R, Mercer, C, Temple, K, Kinning, E, Bojovic, O & Archer, L 2020, ' Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 6, pp. 1005-1014 . https://doi.org/10.1038/s41436-020-0766-9
Wai, H A, Lord, J, Lyon, M, Gunning, A, Kelly, H, Cibin, P, Seaby, E G, Spiers-Fitzgerald, K, Lye, J, Ellard, S, Thomas, N S, Bunyan, D J, Douglas, A G L, Baralle, D, Splicing and disease working group, Naik, S, Ragge, N, Cox, H, Morton, J E, O'Driscoll, M, Lim, D, Osio, D, Elmslie, F, Huber, C, Hewitt, J, Brandon, H, McEntagart, M, Mansour, S, Lahiri, N, Dempsey, E, Manalo, M, Homfray, T, Saggar, A, Li, J, Barwell, J, Chandler, K E, Briggs, T, Douzgou, S, Adlard, J, Kraus, A, Mehta, S, Watford, A, Donaldson, A, Low, K, Jones, G, Dixit, A, King, E, Shannon, N, Kaliakatsos, M, Manalo, M, Joss, S, Balasubramanian, M, Johnson, D, Everest, S, Salter, C, Harrison, V, Wise, G, Torokwa, A, Sands, V, Pyle, E, Thomas, T, Lachlan, K, Foulds, N, Lotery, A, Douglas, A G L, Hammans, S R, Pond, E, Horton, R, Kharbanda, M, Hunt, D, Thomas, C, Side, L, Willis, C, Greville-Heygate, S, Mawby, R, Mercer, C, Temple, K, Kinning, E, Bojovic, O & Archer, L 2020, ' Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 6, pp. 1005-1014 . https://doi.org/10.1038/s41436-020-0766-9
Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large coh
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Autor:
Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S, Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn JL
Publikováno v:
In Lancet Oncology 2011 12(1):49-55