Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Bierzynska, Agnieszka"'
Autor:
Osborne, Amy J.1 (AUTHOR) amy.osborne@bristol.ac.uk, Bierzynska, Agnieszka2 (AUTHOR), Colby, Elizabeth2 (AUTHOR), Andag, Uwe3 (AUTHOR), Kalra, Philip A.4 (AUTHOR), Radresa, Olivier3 (AUTHOR), Skroblin, Philipp3 (AUTHOR), Taal, Maarten W.5 (AUTHOR), Welsh, Gavin I.2 (AUTHOR), Saleem, Moin A.2 (AUTHOR), Campbell, Colin1 (AUTHOR) c.campbell@bristol.ac.uk
Publikováno v:
NPJ Systems Biology & Applications. 3/9/2024, Vol. 10 Issue 1, p1-15. 15p.
Autor:
Bierzynska, Agnieszka
Steroid Resistant Nephrotic Syndrome (SRNS) is characterised by either primary or late onset resistance to immunosuppression. Prognosis is poor and often results in rapid progression to end stage renal failure (ESRF). Generally, the incidence of dise
Externí odkaz:
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.702425
Autor:
Bierzynska, Agnieszka1, Bull, Katherine2, Miellet, Sara3,4, Dean, Philip5, Neal, Chris1, Colby, Elizabeth1, McCarthy, Hugh J.1,6, Hegde, Shivaram7, Sinha, Manish D.8, Bugarin Diz, Carmen9, Stirrups, Kathleen10, Megy, Karyn10,11, Mapeta, Rutendo10,12, Penkett, Chris10, Marsh, Sarah5, Forrester, Natalie4, Afzal, Maryam1, Stark, Hannah10, BioResource, NIHR10, Williams, Maggie5
Publikováno v:
Pediatric Nephrology. Nov2022, Vol. 37 Issue 11, p2643-2656. 14p. 3 Black and White Photographs, 2 Charts, 1 Graph.
Akademický článek
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Autor:
Downie, Mallory L., Gupta, Sanjana, Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Cao, Jingjing, Parekh, Rulan S., Diz, Carmen Bugarin, Bierzynska, Agnieszka, Levine, Adam P., Pepper, Ruth J., Stanescu, Horia, Saleem, Moin A., Kleta, Robert, Bockenhauer, Detlef, Koziell, Ania B., Gale, Daniel P.
Publikováno v:
Pediatric Nephrology; Jun2023, Vol. 38 Issue 6, p1793-1800, 8p, 1 Chart, 1 Graph
Autor:
Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine
Publikováno v:
Nature communications
Nature Communications, 13(1):4840. Nature Publishing Group UK
Dixon, P H, Levine, A P, Cebola, I, Chan, M M Y, Amin, A S, Aich, A, Mozere, M, Maude, H, Mitchell, A L, Zhang, J, NIHR BioResource, Genomics England Research Consortium Collaborators, Chambers, J, Syngelaki, A, Donnelly, J, Cooley, S, Geary, M, Nicolaides, K H, Thorsel, M, Hague, W M, Estiu, M C, Marschall, H-U, Gale, D P & Williamson, C 2022, ' GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements ', Nature Communications, vol. 13, no. 1, 4840 . https://doi.org/10.1038/s41467-022-29931-z
Nature communications, 13(1):4840. Nature Publishing Group
NIHR BioResource & Genomics England Research Consortium Collaborators 2022, ' GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements ', Nature Communications, vol. 13, no. 1, 4840 . https://doi.org/10.1038/s41467-022-29931-z
Nature Communications, 13(1):4840. Nature Publishing Group UK
Dixon, P H, Levine, A P, Cebola, I, Chan, M M Y, Amin, A S, Aich, A, Mozere, M, Maude, H, Mitchell, A L, Zhang, J, NIHR BioResource, Genomics England Research Consortium Collaborators, Chambers, J, Syngelaki, A, Donnelly, J, Cooley, S, Geary, M, Nicolaides, K H, Thorsel, M, Hague, W M, Estiu, M C, Marschall, H-U, Gale, D P & Williamson, C 2022, ' GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements ', Nature Communications, vol. 13, no. 1, 4840 . https://doi.org/10.1038/s41467-022-29931-z
Nature communications, 13(1):4840. Nature Publishing Group
NIHR BioResource & Genomics England Research Consortium Collaborators 2022, ' GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements ', Nature Communications, vol. 13, no. 1, 4840 . https://doi.org/10.1038/s41467-022-29931-z
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32004aedd0a2cc7c0d8d5f85397d8762
Akademický článek
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Akademický článek
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Autor:
Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska
Publikováno v:
Nature
Nature, Nature Publishing Group, 2020, 583 (7814), pp.96-102. ⟨10.1038/s41586-020-2434-2⟩
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Daniels, M J & Evans, D G 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature (London), vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Nature, 583(7814), 96-102. Nature Publishing Group
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Nature, Nature Publishing Group, 2020, 583 (7814), pp.96-102. ⟨10.1038/s41586-020-2434-2⟩
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Daniels, M J & Evans, D G 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature (London), vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Nature, 583(7814), 96-102. Nature Publishing Group
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system
Autor:
Bierzynska, Agnieszka1, Saleem, Moin A.1 m.saleem@bristol.ac.uk
Publikováno v:
Pediatric Nephrology. Nov2018, Vol. 33 Issue 11, p2027-2035. 9p. 1 Diagram, 1 Chart.