Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ouwehand, Willem H."'
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:
Aarts, Cathelijn E M, Downes, Kate, Hoogendijk, Arie J, Sprenkeler, Evelien G G, Gazendam, Roel P, Favier, Rémi, Favier, Marie, Tool, Anton T J, van Hamme, John L, Kostadima, Myrto A, Waller, Kate, Zieger, Barbara, van Bergen, Maaike G J M, Langemeijer, Saskia M C, van der Reijden, Bert A, Janssen, Hans, van den Berg, Timo K, van Bruggen, Robin, Meijer, Alexander B, Ouwehand, Willem H, Kuijpers, Taco W, Afd Biomol.Mass Spect. and Proteomics, Biomolecular Mass Spectrometry and Proteomics
Publikováno v:
Blood advances, 5(2), 549. American Society of Hematology
Blood Advances, 5, 2, pp. 549-564
Blood Adv
Blood advances, 5(2), 549-564. American Society of Hematology
Blood Advances, 5, 549-564
Blood Advances, 5, 2, pp. 549-564
Blood Adv
Blood advances, 5(2), 549-564. American Society of Hematology
Blood Advances, 5, 549-564
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants in neurobeachin-like 2 (NBEAL2), a member of the family of beig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b680bb05342946b94bcc8896a845fb
https://dspace.library.uu.nl/handle/1874/418313
https://dspace.library.uu.nl/handle/1874/418313
Autor:
Mirauta, Bogdan Andrei, Seaton, Daniel D, Bensaddek, Dalila, Brenes, Alejandro, Bonder, Marc Jan, Kilpinen, Helena, Agu, Chukwuma A, Alderton, Alex, Danecek, Petr, Denton, Rachel, Durbin, Richard, Gaffney, Daniel J, Goncalves, Angela, Halai, Reena, Harper, Sarah, Kirton, Christopher M, Kolb-Kokocinski, Anja, Leha, Andreas, McCarthy, Shane A, Memari, Yasin, Patel, Minal, Birney, Ewan, Casale, Francesco Paolo, Clarke, Laura, Harrison, Peter W, Streeter, Ian, Denovi, Davide, Stegle, Oliver, Lamond, Angus I, Meleckyte, Ruta, Moens, Natalie, Watt, Fiona M, Ouwehand, Willem H, Beales, Philip
Publikováno v:
eLife
eLife, Vol 9 (2020)
eLife, Vol 9 (2020)
Human disease phenotypes are driven primarily by alterations in protein expression and/or function. To date, relatively little is known about the variability of the human proteome in populations and how this relates to variability in mRNA expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c18366cc1922197e4e5932603934bd57
https://www.repository.cam.ac.uk/handle/1810/312341
https://www.repository.cam.ac.uk/handle/1810/312341
Autor:
Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska
Publikováno v:
Primary Immunodeficiency Consortium for the NIHR Bioresource, Evans, D G & Daniels, M J 2020, ' Whole-genome sequencing of a sporadic primary immunodeficiency cohort ', Nature, vol. 583, no. 7814, pp. 90-95 . https://doi.org/10.1038/s41586-020-2265-1, https://doi.org/10.1038/s41586-020-2265-1
Nature, 583(7814), 90-95. Nature Publishing Group
Thaventhiran, J E D, Lango Allen, H, Burren, O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Abbs, S, Adhya, Z, Adlard, J, Afzal, M, Ahmed, I, Ahmed, M, Ahmed, S, Aitman, T J, Alachkar, H, Alamelu, J, Alikhan, R, Allen, C E, Allen, L, Allsup, D J, Alvi, A, Ambegaonkar, G, Anantharachagan, A, Ancliff, P, Anderson, J, Antrobus, R, Armstrong, R, Arno, G, Arumugakani, G, Arya, R, Ashford, S, Astle, W J, Attwood, A, Austin, S, Aydinok, Y, Ayub, W, Babbs, C, Bacchelli, C, Baglin, T, Bakchoul, T, Bariana, T K, Barratt, J, Barwell, J, Baski, J, Bates, R W, Batista, J, Baxendale, H E, Baynam, G, Bennett, D L, Bethune, C, Bhatnagar, N, Bibi, S, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Bleda, M, Blesneac, I, Boardman, B, Boddana, P, Bogaard, H J, Booth, C, Boyce, S, Bradley, J R, Brady, A, Breen, G, Brennan, P, Brewer, C, Briley, A, Brown, M, Brown, R, Browning, M J, Brownlie, M, Bryson, C J, Buchan, R J, Buck, J, Buckland, M S, Bueser, T, Diz, C B, Burns, S O, Burren, O S, Calleja, P, Carmichael, J, Carr-White, G, Carss, K J, Casey, R, Chalmers, E, Chambers, J, Chambers, J, Chan, M M Y, Chan, M V, Chandra, A, Cheng, F, Chinn, I K, Chinnery, P F, Chitre, M, Chong, S, Christian, M T, Church, C, Clement, E M, Brod, N C, Clifford, H, Clowes, V E, Coghlan, G, Colby, E, Cole, T R P, Collins, J H, Collins, P W, Condliffe, R, Cook, H T, Cook, S, Cookson, V, Cooper, N, Corris, P A, Creaser-Myers, A, Crisp-Hihn, A, Curry, N S, Cutler, A J, Da Costa, R, Danesino, C, Daniels, M J, Darby, D, Daugherty, L C, Davies, E G, Davies, S, Davis, J, de Bree, G J, Deacock, S, Deegan, P B, Deevi, S V V, Dempster, J, Dent, T, Deshpande, C, Devlin, L A, Dewhurst, E F, Dixit, A K, Dixon, P H, Doffinger, R, Dolling, H, Dormand, N, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K E, Egner, W, Ekani, M N, El-Shanawany, T, Elkhalifa, S, Elston, T, Emmerson, I, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Farmery, J H R, Favier, R, Firth, H V, Fitzpatrick, M M, Fletcher, D, Flinter, F A, Fox, J C, Frary, A J, French, C E, Freson, K, Frontini, M, Furie, B, Gale, D P, Gall, H J, Gardham, A, Gaspar, H B, Gattens, M, Ghali, N, Ghataorhe, P K, Ghio, S, Ghofrani, H A, Ghurye, R, Gibbs, J S R, Gilbert, R D, Gilmour, K C, Girerd, B, Girling, J C, Gissen, P, Gleadall, N S, Goddard, S, Gordins, P, Gorman, K M, Gosal, D, Graf, S, Grassi, L, Greene, D, Greenhalgh, A J, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P G, Griffiths, S, Grigoriadou, S, Grozeva, D, Hackett, S J, Hadden, R D M, Hadinnapola, C, Hague, R, Hague, W M, Haimel, M, Hall, M, Halmagyi, C, Hammerton, T, Hanson, H L, Harkness, K, Harper, A R, Harper, L, Harris, C, Harrison, C, Hart, D, Hassan, A, Hayman, G, Heemskerk, J W M, Hegde, S, Henderson, A, Henderson, R H, Hensiek, A, Henskens, Y M C, Herwadkar, A, Hodgson, J, Hoffman, J, Holden, S, Holder, M, Horvath, R, Houlden, H, Houweling, A C, Howard, L S, Hu, F, Hudson, G, Hughes, S, Hughes, S, Huis in ‘t Veld, A E, Huissoon, A P, Humbert, M, Hurles, M E, Hurst, J A, Irvine, V, Izatt, L, James, R, Jeevaratnam, P, Johnson, M, Johnson, S A, Jolles, S, Jolley, J D, Jones, B, Jones, J, Josifova, D, Jurkute, N, Karim, Y M, Karoshi, M A, Kasanicki, M A, Kazkaz, H, Kazmi, R, Keeling, D, Kelleher, P, Kelly, A M, Kempster, C, Kennedy, F, Kiani, S, Kiely, D G, Kingston, N, Kinsey, S, Klein, N, Klima, R, Knox, E, Kostadima, M A, Kovacs, G, Koziell, A B, Kreuzhuber, R, Krishnakumar, D, Kuijpers, T W, Kumar, A, Kumararatne, D S, Kurian, M A, Laffan, J, Laffan, M A, Lalloo, F, Lambert, M P, Lango Allen, H, Lawman, S H A, Lawrie, A, Layton, D M, Lear, S E, Lees, M M, Lentaigne, C, Levine, A P, Lewington, A J P, Li, W, Liesner, R, Linger, R J, Liu, B, Longhurst, H, Lorenzo, L E, Louka, E, Hadeler, S L, Lyons, P A, Macdougall, M, Machado, R D, MacKenzie Ross, R V, Mackillop, L H, MacLaren, R, Madan, B, Magee, L, Mahdi-Rogers, M, Maher, E R, Maimaris, J, Makris, M, Mangles, S, Manson, A, Manzur, A, Mapeta, R, Marchbank, K J, Mark, P B, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J M, Masati, L, Mathias, M, Matser, V, Matthews, E L, Maw, A, Maxwell, H, McAlinden, P, McCarthy, M I, McDermott, E M, McGowan, S J, McJannet, C, McKinney, H, Meacham, S, Mead, A J, Castello, I M, Meehan, S, Megy, K, Mehta, S, Mercer, C L, Michaelides, M, Michell, A C, Milford, D, Millar, C M, Millar, H, Mistry, A, Moenen, F, Moledina, S, Montani, D, Moore, A T, Moore, J, Morrell, N W, Morrisson, V, Mozere, M, Muir, K W, Mumford, A D, Murng, S H K, Nasir, I, Nejentsev, S, Newnham, M, Ng, J, Ngoh, A, Noorani, S, Noori, M, Nurden, P, O’Sullivan, J M, Obaji, S, Okoli, S, Oksenhendler, E, Olschewski, A, Olschewski, H, Ong, A C M, Ong, K R, Oram, H, Ormondroyd, E, Othman, S, Ouwehand, W H, Pantazis, A, Papadia, S, Papandreou, A, Park, S M, Parker, A P J, Parry, D, Parsons, G, Pasi, K J, Paterson, J, Payne, J H, Peacock, A J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Perry, D, Petersen, R, Piechowski-Jozwiak, B, Pinto, F, Polwarth, G J, Ponsford, M J, Prasad, S, Prokopenko, I, Psaila, B, Pyle, A, Qasim, W, Quinn, E, Quinti, I, Raina, S, Ranganathan, L, Rankin, J, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rehnstrom, K, Reid, E, Reilly, M M, Renton, T, Revel-Vilk, S, Rhodes, C J, Rice, A S C, Richards, E E, Richards, M, Richardson, S, Richter, A, Robert, L, Roberts, I, Rondina, M T, Rosser, E, Rothwell, P, Roughley, C, Roy, N B, Rue-Albrecht, K, Sadeghi-Alavijeh, O, Saleem, M A, Salmon, R M, Samani, N J, Samarghitean, C, Sambrook, J G, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R B, Satchell, S C, Savic, S, Scelsi, L, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Searle, C, Seeger, W, Seneviratne, S L, Sewell, W A C, Seyres, D, Shackley, F, Shamardina, O, Shapiro, S E, Sharma, P, Shehata, H A, Shipley, D, Shtoyerman, R, Sibson, K, Side, L, Simeoni, I, Simpson, M, Sims, M C, Sinha, M D, Sivapalaratnam, S, Skytte, A B, Smith, K G C, Snape, K, Sneddon, L, Sohal, A, Soubrier, F, Southgate, L, Southwood, M, Splitt, M, Staines, S, Staples, E, Stark, H, Stauss, H, Steele, C L, Stein, D, Stein, P E, Stephens, J, Stirrups, K E, Stock, S, Stubbs, M J, Suntharalingam, J, Swietlik, E M, Symington, E, Tait, R C, Talks, K, Tan, R Y Y, Taylor, G B, Thachil, J, Thaventhiran, J E D, Themistocleous, A C, Thomas, D C, Thomas, E, Thomas, M J, Thomas, P, Thompson, D A, Thomson, K, Thrasher, A J, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tool, A T J, Toshner, M R, Traylor, M, Treacy, C M, Treadaway, P, Trembath, R C, Trippier, S, Tuna, S, Turek, W, Turro, E, Upton, P D, Urniaz, R, Vale, T, Van Geet, C, van Zuydam, N, Vandersteen, A M, Vazquez-Lopez, M, Veltman, M W M, Vogt, J, von Ziegenweidt, J, Noordegraaf, A V, Vora, A, Vries, M J A, Wakeling, E L, Walker, N, Walker, S M, Walsh, R, Wanjiku, I, Ware, J S, Warner, T Q, Wassmer, E, Watkins, H, Watson, H G, Watt, C, Waugh, D, Webb, N, Webster, A R, Wei, W, Welch, A, Welch, S B, Werring, D, Wessels, J, Westbury, S K, Westwood, J P W, Wharton, J, Whitehorn, D, Whitworth, J, Wilkins, M R, Willcocks, L, Williams, D J, Williamson, C, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, E R, Workman, S, Wort, S J, Worth, A, Yates, K, Yeatman, N, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Lyons, P A, Hurles, M E, Savic, S, Burns, S O, Kuijpers, T W, Turro, E, Ouwehand, W H, Thrasher, A J, Smith, K G C & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, ' Whole-genome sequencing of a sporadic primary immunodeficiency cohort ', Nature, vol. 583, no. 7814, pp. 90-95 . https://doi.org/10.1038/s41586-020-2265-1
Thaventhiran, J E D, Lango Allen, H, Burren, O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Johnson, M, Thomas, D C, Wei, W & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, ' Whole-genome sequencing of a sporadic primary immunodeficiency cohort ', Nature, vol. 583, no. 7814, pp. 90-95 . https://doi.org/10.1038/s41586-020-2265-1
Nature
Nature, 583(7814), 90-95. Nature Publishing Group
Thaventhiran, J E D, Lango Allen, H, Burren, O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Abbs, S, Adhya, Z, Adlard, J, Afzal, M, Ahmed, I, Ahmed, M, Ahmed, S, Aitman, T J, Alachkar, H, Alamelu, J, Alikhan, R, Allen, C E, Allen, L, Allsup, D J, Alvi, A, Ambegaonkar, G, Anantharachagan, A, Ancliff, P, Anderson, J, Antrobus, R, Armstrong, R, Arno, G, Arumugakani, G, Arya, R, Ashford, S, Astle, W J, Attwood, A, Austin, S, Aydinok, Y, Ayub, W, Babbs, C, Bacchelli, C, Baglin, T, Bakchoul, T, Bariana, T K, Barratt, J, Barwell, J, Baski, J, Bates, R W, Batista, J, Baxendale, H E, Baynam, G, Bennett, D L, Bethune, C, Bhatnagar, N, Bibi, S, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Bleda, M, Blesneac, I, Boardman, B, Boddana, P, Bogaard, H J, Booth, C, Boyce, S, Bradley, J R, Brady, A, Breen, G, Brennan, P, Brewer, C, Briley, A, Brown, M, Brown, R, Browning, M J, Brownlie, M, Bryson, C J, Buchan, R J, Buck, J, Buckland, M S, Bueser, T, Diz, C B, Burns, S O, Burren, O S, Calleja, P, Carmichael, J, Carr-White, G, Carss, K J, Casey, R, Chalmers, E, Chambers, J, Chambers, J, Chan, M M Y, Chan, M V, Chandra, A, Cheng, F, Chinn, I K, Chinnery, P F, Chitre, M, Chong, S, Christian, M T, Church, C, Clement, E M, Brod, N C, Clifford, H, Clowes, V E, Coghlan, G, Colby, E, Cole, T R P, Collins, J H, Collins, P W, Condliffe, R, Cook, H T, Cook, S, Cookson, V, Cooper, N, Corris, P A, Creaser-Myers, A, Crisp-Hihn, A, Curry, N S, Cutler, A J, Da Costa, R, Danesino, C, Daniels, M J, Darby, D, Daugherty, L C, Davies, E G, Davies, S, Davis, J, de Bree, G J, Deacock, S, Deegan, P B, Deevi, S V V, Dempster, J, Dent, T, Deshpande, C, Devlin, L A, Dewhurst, E F, Dixit, A K, Dixon, P H, Doffinger, R, Dolling, H, Dormand, N, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K E, Egner, W, Ekani, M N, El-Shanawany, T, Elkhalifa, S, Elston, T, Emmerson, I, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Farmery, J H R, Favier, R, Firth, H V, Fitzpatrick, M M, Fletcher, D, Flinter, F A, Fox, J C, Frary, A J, French, C E, Freson, K, Frontini, M, Furie, B, Gale, D P, Gall, H J, Gardham, A, Gaspar, H B, Gattens, M, Ghali, N, Ghataorhe, P K, Ghio, S, Ghofrani, H A, Ghurye, R, Gibbs, J S R, Gilbert, R D, Gilmour, K C, Girerd, B, Girling, J C, Gissen, P, Gleadall, N S, Goddard, S, Gordins, P, Gorman, K M, Gosal, D, Graf, S, Grassi, L, Greene, D, Greenhalgh, A J, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P G, Griffiths, S, Grigoriadou, S, Grozeva, D, Hackett, S J, Hadden, R D M, Hadinnapola, C, Hague, R, Hague, W M, Haimel, M, Hall, M, Halmagyi, C, Hammerton, T, Hanson, H L, Harkness, K, Harper, A R, Harper, L, Harris, C, Harrison, C, Hart, D, Hassan, A, Hayman, G, Heemskerk, J W M, Hegde, S, Henderson, A, Henderson, R H, Hensiek, A, Henskens, Y M C, Herwadkar, A, Hodgson, J, Hoffman, J, Holden, S, Holder, M, Horvath, R, Houlden, H, Houweling, A C, Howard, L S, Hu, F, Hudson, G, Hughes, S, Hughes, S, Huis in ‘t Veld, A E, Huissoon, A P, Humbert, M, Hurles, M E, Hurst, J A, Irvine, V, Izatt, L, James, R, Jeevaratnam, P, Johnson, M, Johnson, S A, Jolles, S, Jolley, J D, Jones, B, Jones, J, Josifova, D, Jurkute, N, Karim, Y M, Karoshi, M A, Kasanicki, M A, Kazkaz, H, Kazmi, R, Keeling, D, Kelleher, P, Kelly, A M, Kempster, C, Kennedy, F, Kiani, S, Kiely, D G, Kingston, N, Kinsey, S, Klein, N, Klima, R, Knox, E, Kostadima, M A, Kovacs, G, Koziell, A B, Kreuzhuber, R, Krishnakumar, D, Kuijpers, T W, Kumar, A, Kumararatne, D S, Kurian, M A, Laffan, J, Laffan, M A, Lalloo, F, Lambert, M P, Lango Allen, H, Lawman, S H A, Lawrie, A, Layton, D M, Lear, S E, Lees, M M, Lentaigne, C, Levine, A P, Lewington, A J P, Li, W, Liesner, R, Linger, R J, Liu, B, Longhurst, H, Lorenzo, L E, Louka, E, Hadeler, S L, Lyons, P A, Macdougall, M, Machado, R D, MacKenzie Ross, R V, Mackillop, L H, MacLaren, R, Madan, B, Magee, L, Mahdi-Rogers, M, Maher, E R, Maimaris, J, Makris, M, Mangles, S, Manson, A, Manzur, A, Mapeta, R, Marchbank, K J, Mark, P B, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J M, Masati, L, Mathias, M, Matser, V, Matthews, E L, Maw, A, Maxwell, H, McAlinden, P, McCarthy, M I, McDermott, E M, McGowan, S J, McJannet, C, McKinney, H, Meacham, S, Mead, A J, Castello, I M, Meehan, S, Megy, K, Mehta, S, Mercer, C L, Michaelides, M, Michell, A C, Milford, D, Millar, C M, Millar, H, Mistry, A, Moenen, F, Moledina, S, Montani, D, Moore, A T, Moore, J, Morrell, N W, Morrisson, V, Mozere, M, Muir, K W, Mumford, A D, Murng, S H K, Nasir, I, Nejentsev, S, Newnham, M, Ng, J, Ngoh, A, Noorani, S, Noori, M, Nurden, P, O’Sullivan, J M, Obaji, S, Okoli, S, Oksenhendler, E, Olschewski, A, Olschewski, H, Ong, A C M, Ong, K R, Oram, H, Ormondroyd, E, Othman, S, Ouwehand, W H, Pantazis, A, Papadia, S, Papandreou, A, Park, S M, Parker, A P J, Parry, D, Parsons, G, Pasi, K J, Paterson, J, Payne, J H, Peacock, A J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Perry, D, Petersen, R, Piechowski-Jozwiak, B, Pinto, F, Polwarth, G J, Ponsford, M J, Prasad, S, Prokopenko, I, Psaila, B, Pyle, A, Qasim, W, Quinn, E, Quinti, I, Raina, S, Ranganathan, L, Rankin, J, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rehnstrom, K, Reid, E, Reilly, M M, Renton, T, Revel-Vilk, S, Rhodes, C J, Rice, A S C, Richards, E E, Richards, M, Richardson, S, Richter, A, Robert, L, Roberts, I, Rondina, M T, Rosser, E, Rothwell, P, Roughley, C, Roy, N B, Rue-Albrecht, K, Sadeghi-Alavijeh, O, Saleem, M A, Salmon, R M, Samani, N J, Samarghitean, C, Sambrook, J G, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R B, Satchell, S C, Savic, S, Scelsi, L, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Searle, C, Seeger, W, Seneviratne, S L, Sewell, W A C, Seyres, D, Shackley, F, Shamardina, O, Shapiro, S E, Sharma, P, Shehata, H A, Shipley, D, Shtoyerman, R, Sibson, K, Side, L, Simeoni, I, Simpson, M, Sims, M C, Sinha, M D, Sivapalaratnam, S, Skytte, A B, Smith, K G C, Snape, K, Sneddon, L, Sohal, A, Soubrier, F, Southgate, L, Southwood, M, Splitt, M, Staines, S, Staples, E, Stark, H, Stauss, H, Steele, C L, Stein, D, Stein, P E, Stephens, J, Stirrups, K E, Stock, S, Stubbs, M J, Suntharalingam, J, Swietlik, E M, Symington, E, Tait, R C, Talks, K, Tan, R Y Y, Taylor, G B, Thachil, J, Thaventhiran, J E D, Themistocleous, A C, Thomas, D C, Thomas, E, Thomas, M J, Thomas, P, Thompson, D A, Thomson, K, Thrasher, A J, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tool, A T J, Toshner, M R, Traylor, M, Treacy, C M, Treadaway, P, Trembath, R C, Trippier, S, Tuna, S, Turek, W, Turro, E, Upton, P D, Urniaz, R, Vale, T, Van Geet, C, van Zuydam, N, Vandersteen, A M, Vazquez-Lopez, M, Veltman, M W M, Vogt, J, von Ziegenweidt, J, Noordegraaf, A V, Vora, A, Vries, M J A, Wakeling, E L, Walker, N, Walker, S M, Walsh, R, Wanjiku, I, Ware, J S, Warner, T Q, Wassmer, E, Watkins, H, Watson, H G, Watt, C, Waugh, D, Webb, N, Webster, A R, Wei, W, Welch, A, Welch, S B, Werring, D, Wessels, J, Westbury, S K, Westwood, J P W, Wharton, J, Whitehorn, D, Whitworth, J, Wilkins, M R, Willcocks, L, Williams, D J, Williamson, C, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, E R, Workman, S, Wort, S J, Worth, A, Yates, K, Yeatman, N, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Lyons, P A, Hurles, M E, Savic, S, Burns, S O, Kuijpers, T W, Turro, E, Ouwehand, W H, Thrasher, A J, Smith, K G C & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, ' Whole-genome sequencing of a sporadic primary immunodeficiency cohort ', Nature, vol. 583, no. 7814, pp. 90-95 . https://doi.org/10.1038/s41586-020-2265-1
Thaventhiran, J E D, Lango Allen, H, Burren, O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Johnson, M, Thomas, D C, Wei, W & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, ' Whole-genome sequencing of a sporadic primary immunodeficiency cohort ', Nature, vol. 583, no. 7814, pp. 90-95 . https://doi.org/10.1038/s41586-020-2265-1
Nature
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af27ecd7ff6e77892766328e6fd72819
http://hdl.handle.net/10044/1/80000
http://hdl.handle.net/10044/1/80000
Autor:
Wuttke, Matthias, Li, Yong, Li, Man, Sieber, Karsten B., Feitosa, Mary F., Gorski, Mathias, Tin, Adrienne, Wang, Lihua, Chu, Audrey Y., Hoppmann, Anselm, Kirsten, Holger, Giri, Ayush, Chai, Jin-Fang, Sveinbjornsson, Gardar, Tayo, Bamidele O., Nutile, Teresa, Fuchsberger, Christian, Marten, Jonathan, Cocca, Massimiliano, Ghasemi, Sahar, Xu, Yizhe, Horn, Katrin, Noce, Damia, van der Most, Peter J., Sedaghat, Sanaz, Yu, Zhi, Akiyama, Masato, Afaq, Saima, Ahluwalia, Tarunveer S., Almgren, Peter, Amin, Najaf, Ärnlöv, Johan, Bakker, Stephan J. L., Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L., Biino, Ginevra, Boehnke, Michael, Boerwinkle, Eric, Boissel, Mathilde, Bottinger, Erwin P., Boutin, Thibaud S., Brenner, Hermann, Brumat, Marco, Burkhardt, Ralph, Butterworth, Adam S., Campana, Eric, Campbell, Archie, Campbell, Harry, Canouil, Mickaël, Carroll, Robert J., Catamo, Eulalia, Chambers, John C., Chee, Miao-Ling, Chee, Miao-Li, Chen, Xu, Cheng, Ching-Yu, Cheng, Yurong, Christensen, Kaare, Cifkova, Renata, Ciullo, Marina, Pina Concas, Maria, Cook, James P., Coresh, Josef, Corre, Tanguy, Sala, Cinzia Felicita, Cusi, Daniele, Danesh, John, Daw, E. Warwick, de Borst, Martin H., De Grandi, Alessandro, de Mutsert, Renée, de Vries, Aiko P. J., Degenhardt, Frauke, Delgado, Graciela, Demirkan, Ayse, Di Angelantonio, Emanuele, Dittrich, Katalin, Divers, Jasmin, Dorajoo, Rajkumar, Eckardt, Kai-Uwe, Ehret, Georg, Elliott, Paul, Endlich, Karlhans, Evans, Michele K., Felix, Janine F., Foo, Valencia Hui Xian, Franco, Oscar H., Franke, Andre, Freedman, Barry I., Freitag-Wolf, Sandra, Friedlander, Yechiel, Froguel, Philippe, Gansevoort, Ron T., Gao, He, Gasparini, Paolo, Gaziano, J. Michael, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Giulianini, Franco, Gögele, Martin, Gordon, Scott D., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B., Hartman, Catharina A., Hayward, Caroline, Hellwege, Jacklyn N., Heng, Chew-Kiat, Hickst, Andrew A., Hofer, Edith, Huang, Wei, Hutri-Kähönen, Nina, Hwang, Shih-Jen, ikram, M. Arfan, indridason, Olafur S., Ingelsson, Erik, ising, Marcus, Jaddoe, Vincent W. V., Jakobsdottir, Johanna, Jonas, Jost B, Joshi, Peter K., Shilpa Josyula, Navya, Jung, Bettina, Kähönen, Mika, Kamatani, Yoichiro, Kammerer, Candace M., Kanai, Masahiro, Kastarinen, Mika, Kerr, Shona M., Khor, Chiea-Chuen, Kiess, Wieland, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Körner, Antje, Kovacs, Peter, Kraja, Aldi T., Krajcoviechova, Alena, Kramer, Holly, Krämer, Bernhard K., Kronenberg, Florian, Kubo, Michiaki, Kühnel, Brigitte, Kuokkanen, Mikko, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lange, Leslie A., Langefeld, Carl D., Jen-Mai Lee, Jeannette, Lehne, Benjamin, Lehtimäki, Terho, Lieb, Wolfgang, Cohort Study, Lifelines, Lim, Su-Chi, Lind, Lars, Lindgren, Cecilia M., Liu, Jun, Liu, Jianjun, Loeffler, Markus, Loos, Ruth J. F., Lucae, Susanne, Ann Lukas, Mary, Lyytikäinen, Leo-Pekka, Mägi, Reedik, Magnusson, Patrik K. E., Mahajan, Anubha, Martin, Nicholas G., Martins, Jade, März, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Christa Meisinger, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mikaelsdottir, Evgenia K., Milaneschi, Yuri, Miliku, Kozeta, Mishra, Pashupati P., Veteran Program, V. A. Million, Mohlke, Karen L., Mononen, Nina, Montgomery, Grant W., Mook-Kanamori, Dennis O., Mychaleckyj, Josyf C., Nadkarni, Girish N, Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, ilja M., Noordam, Raymond, O’Connell, Jeffrey, O’Donoghue, Michelle L., Olafsson, Isleifur, Oldehinkel, Albertine J., Orho-Melander, Marju, Ouwehand, Willem H., Padmanabhan, Sandosh, Palmer, Nicholette D., Palsson, Runolfur, Penninx, Brenda W. J. H., Perls, Thomas, Perola, Markus, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Podgornaia, Anna I., Polasek, Ozren, Ponte, Belen, Porteous, David J., Poulain, Tanja, Pramstaller, Peter P., Preuss, Michael H., Prins, Bram P., Province, Michael A., Rabelink, Ton J., Raffield, Laura M., Raitakari, Olli T., Reilly, Dermot F., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Ridker, Paul M., Rivadeneira, Fernando, Rizzi, Federica, Roberts, David J., Robino, Antonietta, Rossing, Peter, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A., Saba, Yasaman, Sabanayagam, Charumathi, Salomaa, Veikko, Salvi, Erika, Saum, Kai-Uwe, Schmidt, Helena, Schmidt, Reinhold, Schöttker, Ben, Schulz, Christina-Alexandra, Schupf, Nicole, Shaffer, Christian M., Shi, Yuan, Smith, Albert V., Smith, Blair H., Soranzo, Nicole, Spracklen, Cassandra N., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Svensson, Per O., Szymczak, Silke, Tai, E-Shyong, Tajuddin, Salman M., Tan, Nicholas Y. Q., Taylor, Kent D., Teren, Andrej, Tham, Yih-Chung, Thiery, Joachim, Thio, Chris H. L., Thomsen, Hauke, Thorleifsson, Gudmar, Toniolo, Daniela, Tönjes, Anke, Tremblay, Johanne, Tzoulaki, Ioanna, Uitterlinden, André G., Vaccargiu, Simona, van Dam, Rob M., van der Harst, Pim, van Duijn, Cornelia M., Velez Edward, Digna R., Verweij, Niek, Vogelezang, suzanne, Völker, üwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Wallentin, Lars, Wang, Ya Xing, Wang, Chaolong, Waterworth, Dawn M., Bin Wei, Wen, White, Harvey, Whitfield, John B., Wild, Sarah H., Wilson, James F., Wojczynski, Mary K., Wong, Charlene, Wong, Tien-Yin, Xu, Liang, Yang, Qiong, Yasuda, Masayuki, Yerges-Armstrong, Laura M., Zhang, Weihua, Zonderman, Alan B., Rotter, Jerome I., Bochud, Murielle, Psaty, Bruce M., Vitart, Veronique, Wilson, James G., Dehghan, Abbas, Parsa, Afshin, Chasman, Daniel I., Ho, Kevin, Morris, Andrew P., Devuyst, Olivier, Akilesh, Shreeram, Pendergrass, Sarah A., Sim, Xueling, Böger, Carsten A., Okada, Yukinori, Edwards, Todd L., Snieder, Harold, Stefansson, Kari, Hung, Adriana M., Heid, Iris M., Markus Scholz, Teumer, Alexander, Köttgen, Anna, Pattaro, Cristian
Publikováno v:
Nature Genetics
Nature genetics
51 (2019): 957–972. doi:10.1038/s41588-019-0407-x
info:cnr-pdr/source/autori:Wuttke, Matthias; Li, Yong; Li, Man; Sieber, Karsten B.; Feitosa, Mary F.; Gorski, Mathias; Tin, Adrienne; Wang, Lihua; Chu, Audrey Y.; Hoppmann, Anselm; Kirsten, Holger; Giri, Ayush; Chai, Jin-Fang; Sveinbjornsson, Gardar; Tayo, Bamidele O.; Nutile, Teresa; Fuchsberger, Christian; Marten, Jonathan; Cocca, Massimiliano; Ghasemi, Sahar; Xu, Yizhe; Horn, Katrin; Noce, Damia; Van der Most, Peter J.; Sedaghat, Sanaz; Yu, Zhi; Akiyama, Masato; Afaq, Saima; Ahluwalia, Tarunveer S.; Almgren, Peter; Amin, Najaf; Arnlov, Johan; Bakker, Stephan J. L.; Bansal, Nisha; Baptista, Daniela; Bergmann, Sven; Biggs, Mary L.; Biino, Ginevra; Boehnke, Michael; Boerwinkle, Eric; Boissel, Mathilde; Bottinger, Erwin P.; Boutin, Thibaud S.; Brenner, Hermann; Brumat, Marco; Burkhardt, Ralph; Butterworth, Adam S.; Campana, Eric; Campbell, Archie; Campbell, Harry; Canouil, Mickael; Carroll, Robert J.; Catamo, Eulalia; Chambers, John C.; Chee, Miao-Ling; Chee, Miao-Li; Chen, Xu; Cheng, Ching-Yu; Cheng, Yurong; Christensen, Kaare; Cifkova, Renata; Ciullo, Marina; Concas, Maria Pina; Cook, James P.; Coresh, Josef; Corre, Tanguy; Sala, Cinzia Felicita; Cusi, Daniele; Danesh, John; Daw, E. Warwick; De Borst, Martin H.; De Grandi, Alessandro; De Mutsert, Renee; De Vries, Aiko P. J.; Degenhardt, Frauke; Delgado, Graciela; Demirkan, Ayse; Di Angelantonio, Emanuele; Dittrich, Katalin; Divers, Jasmin; Dorajoo, Rajkumar; Eckardt, Kai-Uwe; Ehret, Georg; Elliott, Paul; Endlich, Karlhans; Evans, Michele K.; Felix, Janine F.; Foo, Valencia Hui Xian; Franco, Oscar H.; Franke, Andre; Freedman, Barry I.; Freitag-Wolf, Sandra; Friedlander, Yechiel; Froguel, Philippe; Gansevoort, Ron T.; Gao, He; Gasparini, Paolo; Gaziano, J. Michael; Giedraitis, Vilmantas; Gieger, Christian; Girotto, Giorgia; Giulianini, Franco; Gogele, Martin; Gordon, Scott D.; Gudbjartsson, Daniel F.; Gudnason, Vilmundur; Haller, Toomas; Hamet, Pavel; Harris, Tamara B.; Hartman, Catharina A.; Hayward, Caroline; Hellwege, Jacklyn N.; Heng, Chew-Kiat; Hicks, Andrew A.; Hofer, Edith; Huang, Wei; Hutri-Kahonen, Nina; Hwang, Shih-Jen; Ikram, M. Arfan; Indridason, Olafur S.; Ingelsson, Erik; Ising, Marcus; Jaddoe, Vincent W. V.; Jakobsdottir, Johanna; Jonas, Jost B.; Joshi, Peter K.; Josyula, Navya Shilpa; Jung, Bettina; Kahonen, Mika; Kamatani, Yoichiro; Kammerer, Candace M.; Kanai, Masahiro; Kastarinen, Mika; Kerr, Shona M.; Khor, Chiea-Chuen; Kiess, Wieland; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Korner, Antje; Kovacs, Peter; Kraja, Aldi T.; Krajcoviechova, Alena; Kramer, Holly; Kramer, Bernhard K.; Kronenberg, Florian; Kubo, Michiaki; Kuhnel, Brigitte; Kuokkanen, Mikko; Kuusisto, Johanna; La Bianca, Martina; Laakso, Markku; Lange, Leslie A.; Langefeld, Carl D.; Lee, Jeannette Jen-Mai; Lehne, Benjamin; Lehtimaki, Terho; Lieb, Wolfgang; Lim, Su-Chi; Lind, Lars; Lindgren, Cecilia M.; Liu, Jun; Liu, Jianjun; Loeffler, Markus; Loos, Ruth J. F.; Lucae, Susanne; Lukas, Mary Ann; Lyytikainen, Leo-Pekka; Magi, Reedik; Magnusson, Patrik K. E.; Mahajan, Anubha; Martin, Nicholas G.; Martins, Jade; Marz, Winfried; Mascalzoni, Deborah; Matsuda, Koichi; Meisinger, Christa; Meitinger, Thomas; Melander, Olle; Metspalu, Andres; Mikaelsdottir, Evgenia K.; Milaneschi, Yuri; Miliku, Kozeta; Mishra, Pashupati P.; Program, V. A. Million Veteran; Mohlke, Karen L.; Mononen, Nina; Montgomery, Grant W.; Mook-Kanamori, Dennis O.; Mychaleckyj, Josyf C.; Nadkarni, Girish N.; Nalls, Mike A.; Nauck, Matthias; Nikus, Kjell; Ning, Boting; Nolte, Ilja M.; Noordam, Raymond; O'Connell, Jeffrey; O'Donoghue, Michelle L.; Olafsson, Isleifur; Oldehinkel, Albertine J.; Orho-Melander, Marju; Ouwehand, Willem H.; Padmanabhan, Sandosh; Palmer, Nicholette D.; Palsson, Runolfur; Penninx, Brenda W. J. H.; Perls, Thomas; Perola, Markus; Pirastu, Mario; Pirastu, Nicola; Pistis, Giorgio; Podgornaia, Anna I.; Polasek, Ozren; Ponte, Belen; Porteous, David J.; Poulain, Tanja; Pramstaller, Peter P.; Preuss, Michael H.; Prins, Bram P.; Province, Michael A.; Rabelink, Ton J.; Raffield, Laura M.; Raitakari, Olli T.; Reilly, Dermot F.; Rettig, Rainer; Rheinberger, Myriam; Rice, Kenneth M.; Ridker, Paul M.; Rivadeneira, Fernando; Rizzi, Federica; Roberts, David J.; Robino, Antonietta; Rossing, Peter; Rudan, Igor; Rueedi, Rico; Ruggiero, Daniela; Ryan, Kathleen A.; Saba, Yasaman; Sabanayagam, Charumathi; Salomaa, Veikko; Salvi, Erika; Saum, Kai-Uwe; Schmidt, Helena; Schmidt, Reinhold; Ben Schottker; Schulz, Christina-Alexandra; Schupf, Nicole; Shaffer, Christian M.; Shi, Yuan; Smith, Albert V.; Smith, Blair H.; Soranzo, Nicole; Spracklen, Cassandra N.; Strauch, Konstantin; Stringham, Heather M.; Stumvoll, Michael; Svensson, Per O.; Szymczak, Silke; Tai, E-Shyong; Tajuddin, Salman M.; Tan, Nicholas Y. Q.; Taylor, Kent D.; Teren, Andrej; Tham, Yih-Chung; Thiery, Joachim; Thio, Chris H. L.; Thomsen, Hauke; Thorleifsson, Gudmar; Toniolo, Daniela; Tonjes, Anke; Tremblay, Johanne; Tzoulaki, Ioanna; Uitterlinden, Andre G.; Vaccargiu, Simona; Van Dam, Rob M.; Van der Harst, Pim; Van Duijn, Cornelia M.; Edward, Digna R. Velez; Verweij, Niek; Vogelezang, Suzanne; Volker, Uwe; Vollenweider, Peter; Waeber, Gerard; Waldenberger, Melanie; Wallentin, Lars; Wang, Ya Xing; Wang, Chaolong; Waterworth, Dawn M.; Bin Wei, Wen; White, Harvey; Whitfield, John B.; Wild, Sarah H.; Wilson, James F.; Wojczynski, Mary K.; Wong, Charlene; Wong, Tien-Yin; Xu, Liang; Yang, Qiong; Yasuda, Masayuki; Yerges-Armstrong, Laura M.; Zhang, Weihua; Zonderman, Alan B.; Rotter, Jerome I.; Bochud, Murielle; Psaty, Bruce M.; Vitart, Veronique; Wilson, James G.; Dehghan, Abbas; Parsa, Afshin; Chasman, Daniel I.; Ho, Kevin; Morris, Andrew P.; Devuyst, Olivier; Akilesh, Shreeram; Pendergrass, Sarah A.; Sim, Xueling; Boger, Carsten A.; Okada, Yukinori; Edwards, Todd L.; Snieder, Harold; Stefansson, Kari; Hung, Adriana M.; Heid, Iris M.; Scholz, Markus; Teumer, Alexander; Kottgen, Anna; Pattaro, Cristian/titolo:A catalog of genetic loci associated with kidney function from analyses of a million individuals/doi:10.1038%2Fs41588-019-0407-x/rivista:Nature genetics (Print)/anno:2019/pagina_da:957/pagina_a:972/intervallo_pagine:957–972/volume:51
Nature Genetics, 51(6), 957-+. Nature Publishing Group
Wuttke, M, Li, Y, Li, M, Sieber, K B, Feitosa, M F, Gorski, M, Tin, A, Wang, L, Chu, A Y, Hoppmann, A, Kirsten, H, Giri, A, Chai, J-F, Sveinbjornsson, G, Tayo, B O, Nutile, T, Fuchsberger, C, Marten, J, Cocca, M, Ghasemi, S, Xu, Y, Horn, K, Noce, D, van der Most, P J, Sedaghat, S, Yu, Z, Akiyama, M, Afaq, S, Ahluwalia, T S, Almgren, P, Amin, N, Ärnlöv, J, Bakker, S J L, Bansal, N, Baptista, D, Bergmann, S, Biggs, M L, Biino, G, Boehnke, M, Boerwinkle, E, Boissel, M, Bottinger, E P, Boutin, T S, Brenner, H, Brumat, M, Burkhardt, R, Butterworth, A S, Campana, E, Milaneschi, Y, Penninx, B W J H, Köttgen, A, Pattaro, C, Lifelines Cohort Study & V. A. Million Veteran Program 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Nature Genetics, Vol. 51, No 6 (2019) pp. 957-972
Wuttke, M, Li, Y, Li, M, Sieber, K B, Feitosa, M F, Gorski, M, Tin, A, Wang, L, Chu, A Y, Hoppmann, A, Kirsten, H, Giri, A, Chai, J F, Sveinbjornsson, G, Tayo, B O, Nutile, T, Fuchsberger, C, Marten, J, Cocca, M, Ghasemi, S, Xu, Y, Horn, K, Noce, D, van der Most, P J, Sedaghat, S, Yu, Z, Akiyama, M, Afaq, S, Ahluwalia, T S, Almgren, P, Amin, N, Ärnlöv, J, Bakker, S J L, Bansal, N, Baptista, D, Bergmann, S, Biggs, M L, Biino, G, Boehnke, M, Boerwinkle, E, Boissel, M, Bottinger, E P, Boutin, T, Brenner, H, Brumat, M, Campbell, A, Campbell, H, Hayward, C, Joshi, P K, Kerr, S, Lim, S-C, Lind, L, Lindgren, C M, Liu, J, Liu, J, Loeffler, M, Loos, R J F, Lucae, S, Lukas, M A, Lyytikäinen, L-P, Mägi, R, Magnusson, P K E, Mahajan, A, Martin, N G, Martins, J, März, W, Mascalzoni, D, Matsuda, K, Meisinger, C, Meitinger, T, Melander, O, Metspalu, A, Mikaelsdottir, E K, Milaneschi, Y, Miliku, K, Mishra, P P, Mohlke, K L, Montgomery, G W, Mychaleckyj, J C, Nadkarni, G N, Nalls, M A, Nauck, M, Nikus, K, Ning, B, Nolte, I M, Noordam, R, O’Connell, J R, O'Donoghue, M L, Olafsson, I, Oldehinkel, A J, Orho-Melander, M, Ouwehand, W H, Padmanabhan, S, Palmer, N D, Palsson, R, Penninx, B W J H, Perls, T, Perola, M, Pirastu, M, Pirastu, N, Pistis, G, Podgornaia, A I, Polasek, O, Ponte, B, Porteous, D J, Poulain, T, Pramstaller, P P, Preuss, M H, Prins, B P, Province, M A, Rabelink, T J, Raffield, L M, Raitakari, O T, Reilly, D F, Rettig, R, Rheinberger, M, Rice, K M, Ridker, P M, Rivadeneira, F, Rizzi, F, Roberts, D J, Robino, A, Rossing, P, Rudan, I, Rueedi, R, Ruggiero, D, Ryan, K A, Saba, Y, Sabanayagam, C, Salomaa, V, Salvi, E, Saum, K-U, Schmidt, H, Schmidt, R, Schöttker, B, Schulz, C-A, Schupf, N, Shaffer, C M, Shi, Y, Smith, A V, Smith, B H, Soranzo, N, Spracklen, C N, Strauch, K, Stringham, H M, Stumvoll, M, Svensson, P O, Szymczak, S, Tai, E-S, Tajuddin, S M, Tan, N Y Q, Taylor, K D, Teren, A, Tham, Y-C, Thiery, J, Thio, C H L, Thomsen, H, Thorleifsson, G, Toniolo, D, Tönjes, A, Tremblay, J, Tzoulaki, I, Uitterlinden, A G, Vaccargiu, S, van Dam, R M, van der Harst, P, van Duijn, C M, Velez Edwards, D R, Verweij, N, Vogelezang, S, Völker, U, Vollenweider, P, Waeber, G, Waldenberger, M, Wallentin, L, Wang, Y X, Wang, C, Waterworth, D M, Wei, W B, White, H, Whitfield, J B, Wild, S H, Wilson, J F, Wojczynski, M K, Wong, C, Wong, T-Y, Xu, L, Yang, Q, Yasuda, M, Yerges-Armstrong, L M, Zhang, W, Zonderman, A B, Rotter, J I, Bochud, M, Psaty, B M, Vitart, V, Wilson, J G, Dehghan, A, Parsa, A, Chasman, D I, Ho, K, Morris, A P, Devuyst, O, Akilesh, S, Pendergrass, S A, Sim, X, Böger, C A, Okada, Y, Edwards, T L, Snieder, H, Stefansson, K, Hung, A M, Heid, I M, Scholz, M & Teumer, A & Köttgen, A & Pattaro, C 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Wuttke, M, Li, Y, Li, M, Sieber, K B, Feitosa, M F, Gorski, M, Tin, A, Wang, L, Chu, A Y, Hoppmann, A, Kirsten, H, Giri, A, Chai, J F, Sveinbjornsson, G, Tayo, B O, Nutile, T, Fuchsberger, C, Marten, J, Cocca, M, Ghasemi, S, Xu, Y, Horn, K, Noce, D, van der Most, P J, Sedaghat, S, Yu, Z, Akiyama, M, Afaq, S, Ahluwalia, T S, Almgren, P, Amin, N, Ärnlöv, J, Bakker, S J L, Bansal, N, Baptista, D, Bergmann, S, Biggs, M L, Biino, G, Boehnke, M, Boerwinkle, E, Boissel, M, Bottinger, E P, Boutin, T S, Brenner, H, Brumat, M, Burkhardt, R, Butterworth, A S, Campana, E, Christensen, K, Lifelines Cohort Study & V. A. Million Veteran Program 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Nature Genetics, 51(6), 957-972. Nature Publishing Group
Nature Genetics, 51(6), 957
LifeLines Cohort Study 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Nature genetics
51 (2019): 957–972. doi:10.1038/s41588-019-0407-x
info:cnr-pdr/source/autori:Wuttke, Matthias; Li, Yong; Li, Man; Sieber, Karsten B.; Feitosa, Mary F.; Gorski, Mathias; Tin, Adrienne; Wang, Lihua; Chu, Audrey Y.; Hoppmann, Anselm; Kirsten, Holger; Giri, Ayush; Chai, Jin-Fang; Sveinbjornsson, Gardar; Tayo, Bamidele O.; Nutile, Teresa; Fuchsberger, Christian; Marten, Jonathan; Cocca, Massimiliano; Ghasemi, Sahar; Xu, Yizhe; Horn, Katrin; Noce, Damia; Van der Most, Peter J.; Sedaghat, Sanaz; Yu, Zhi; Akiyama, Masato; Afaq, Saima; Ahluwalia, Tarunveer S.; Almgren, Peter; Amin, Najaf; Arnlov, Johan; Bakker, Stephan J. L.; Bansal, Nisha; Baptista, Daniela; Bergmann, Sven; Biggs, Mary L.; Biino, Ginevra; Boehnke, Michael; Boerwinkle, Eric; Boissel, Mathilde; Bottinger, Erwin P.; Boutin, Thibaud S.; Brenner, Hermann; Brumat, Marco; Burkhardt, Ralph; Butterworth, Adam S.; Campana, Eric; Campbell, Archie; Campbell, Harry; Canouil, Mickael; Carroll, Robert J.; Catamo, Eulalia; Chambers, John C.; Chee, Miao-Ling; Chee, Miao-Li; Chen, Xu; Cheng, Ching-Yu; Cheng, Yurong; Christensen, Kaare; Cifkova, Renata; Ciullo, Marina; Concas, Maria Pina; Cook, James P.; Coresh, Josef; Corre, Tanguy; Sala, Cinzia Felicita; Cusi, Daniele; Danesh, John; Daw, E. Warwick; De Borst, Martin H.; De Grandi, Alessandro; De Mutsert, Renee; De Vries, Aiko P. J.; Degenhardt, Frauke; Delgado, Graciela; Demirkan, Ayse; Di Angelantonio, Emanuele; Dittrich, Katalin; Divers, Jasmin; Dorajoo, Rajkumar; Eckardt, Kai-Uwe; Ehret, Georg; Elliott, Paul; Endlich, Karlhans; Evans, Michele K.; Felix, Janine F.; Foo, Valencia Hui Xian; Franco, Oscar H.; Franke, Andre; Freedman, Barry I.; Freitag-Wolf, Sandra; Friedlander, Yechiel; Froguel, Philippe; Gansevoort, Ron T.; Gao, He; Gasparini, Paolo; Gaziano, J. Michael; Giedraitis, Vilmantas; Gieger, Christian; Girotto, Giorgia; Giulianini, Franco; Gogele, Martin; Gordon, Scott D.; Gudbjartsson, Daniel F.; Gudnason, Vilmundur; Haller, Toomas; Hamet, Pavel; Harris, Tamara B.; Hartman, Catharina A.; Hayward, Caroline; Hellwege, Jacklyn N.; Heng, Chew-Kiat; Hicks, Andrew A.; Hofer, Edith; Huang, Wei; Hutri-Kahonen, Nina; Hwang, Shih-Jen; Ikram, M. Arfan; Indridason, Olafur S.; Ingelsson, Erik; Ising, Marcus; Jaddoe, Vincent W. V.; Jakobsdottir, Johanna; Jonas, Jost B.; Joshi, Peter K.; Josyula, Navya Shilpa; Jung, Bettina; Kahonen, Mika; Kamatani, Yoichiro; Kammerer, Candace M.; Kanai, Masahiro; Kastarinen, Mika; Kerr, Shona M.; Khor, Chiea-Chuen; Kiess, Wieland; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Korner, Antje; Kovacs, Peter; Kraja, Aldi T.; Krajcoviechova, Alena; Kramer, Holly; Kramer, Bernhard K.; Kronenberg, Florian; Kubo, Michiaki; Kuhnel, Brigitte; Kuokkanen, Mikko; Kuusisto, Johanna; La Bianca, Martina; Laakso, Markku; Lange, Leslie A.; Langefeld, Carl D.; Lee, Jeannette Jen-Mai; Lehne, Benjamin; Lehtimaki, Terho; Lieb, Wolfgang; Lim, Su-Chi; Lind, Lars; Lindgren, Cecilia M.; Liu, Jun; Liu, Jianjun; Loeffler, Markus; Loos, Ruth J. F.; Lucae, Susanne; Lukas, Mary Ann; Lyytikainen, Leo-Pekka; Magi, Reedik; Magnusson, Patrik K. E.; Mahajan, Anubha; Martin, Nicholas G.; Martins, Jade; Marz, Winfried; Mascalzoni, Deborah; Matsuda, Koichi; Meisinger, Christa; Meitinger, Thomas; Melander, Olle; Metspalu, Andres; Mikaelsdottir, Evgenia K.; Milaneschi, Yuri; Miliku, Kozeta; Mishra, Pashupati P.; Program, V. A. Million Veteran; Mohlke, Karen L.; Mononen, Nina; Montgomery, Grant W.; Mook-Kanamori, Dennis O.; Mychaleckyj, Josyf C.; Nadkarni, Girish N.; Nalls, Mike A.; Nauck, Matthias; Nikus, Kjell; Ning, Boting; Nolte, Ilja M.; Noordam, Raymond; O'Connell, Jeffrey; O'Donoghue, Michelle L.; Olafsson, Isleifur; Oldehinkel, Albertine J.; Orho-Melander, Marju; Ouwehand, Willem H.; Padmanabhan, Sandosh; Palmer, Nicholette D.; Palsson, Runolfur; Penninx, Brenda W. J. H.; Perls, Thomas; Perola, Markus; Pirastu, Mario; Pirastu, Nicola; Pistis, Giorgio; Podgornaia, Anna I.; Polasek, Ozren; Ponte, Belen; Porteous, David J.; Poulain, Tanja; Pramstaller, Peter P.; Preuss, Michael H.; Prins, Bram P.; Province, Michael A.; Rabelink, Ton J.; Raffield, Laura M.; Raitakari, Olli T.; Reilly, Dermot F.; Rettig, Rainer; Rheinberger, Myriam; Rice, Kenneth M.; Ridker, Paul M.; Rivadeneira, Fernando; Rizzi, Federica; Roberts, David J.; Robino, Antonietta; Rossing, Peter; Rudan, Igor; Rueedi, Rico; Ruggiero, Daniela; Ryan, Kathleen A.; Saba, Yasaman; Sabanayagam, Charumathi; Salomaa, Veikko; Salvi, Erika; Saum, Kai-Uwe; Schmidt, Helena; Schmidt, Reinhold; Ben Schottker; Schulz, Christina-Alexandra; Schupf, Nicole; Shaffer, Christian M.; Shi, Yuan; Smith, Albert V.; Smith, Blair H.; Soranzo, Nicole; Spracklen, Cassandra N.; Strauch, Konstantin; Stringham, Heather M.; Stumvoll, Michael; Svensson, Per O.; Szymczak, Silke; Tai, E-Shyong; Tajuddin, Salman M.; Tan, Nicholas Y. Q.; Taylor, Kent D.; Teren, Andrej; Tham, Yih-Chung; Thiery, Joachim; Thio, Chris H. L.; Thomsen, Hauke; Thorleifsson, Gudmar; Toniolo, Daniela; Tonjes, Anke; Tremblay, Johanne; Tzoulaki, Ioanna; Uitterlinden, Andre G.; Vaccargiu, Simona; Van Dam, Rob M.; Van der Harst, Pim; Van Duijn, Cornelia M.; Edward, Digna R. Velez; Verweij, Niek; Vogelezang, Suzanne; Volker, Uwe; Vollenweider, Peter; Waeber, Gerard; Waldenberger, Melanie; Wallentin, Lars; Wang, Ya Xing; Wang, Chaolong; Waterworth, Dawn M.; Bin Wei, Wen; White, Harvey; Whitfield, John B.; Wild, Sarah H.; Wilson, James F.; Wojczynski, Mary K.; Wong, Charlene; Wong, Tien-Yin; Xu, Liang; Yang, Qiong; Yasuda, Masayuki; Yerges-Armstrong, Laura M.; Zhang, Weihua; Zonderman, Alan B.; Rotter, Jerome I.; Bochud, Murielle; Psaty, Bruce M.; Vitart, Veronique; Wilson, James G.; Dehghan, Abbas; Parsa, Afshin; Chasman, Daniel I.; Ho, Kevin; Morris, Andrew P.; Devuyst, Olivier; Akilesh, Shreeram; Pendergrass, Sarah A.; Sim, Xueling; Boger, Carsten A.; Okada, Yukinori; Edwards, Todd L.; Snieder, Harold; Stefansson, Kari; Hung, Adriana M.; Heid, Iris M.; Scholz, Markus; Teumer, Alexander; Kottgen, Anna; Pattaro, Cristian/titolo:A catalog of genetic loci associated with kidney function from analyses of a million individuals/doi:10.1038%2Fs41588-019-0407-x/rivista:Nature genetics (Print)/anno:2019/pagina_da:957/pagina_a:972/intervallo_pagine:957–972/volume:51
Nature Genetics, 51(6), 957-+. Nature Publishing Group
Wuttke, M, Li, Y, Li, M, Sieber, K B, Feitosa, M F, Gorski, M, Tin, A, Wang, L, Chu, A Y, Hoppmann, A, Kirsten, H, Giri, A, Chai, J-F, Sveinbjornsson, G, Tayo, B O, Nutile, T, Fuchsberger, C, Marten, J, Cocca, M, Ghasemi, S, Xu, Y, Horn, K, Noce, D, van der Most, P J, Sedaghat, S, Yu, Z, Akiyama, M, Afaq, S, Ahluwalia, T S, Almgren, P, Amin, N, Ärnlöv, J, Bakker, S J L, Bansal, N, Baptista, D, Bergmann, S, Biggs, M L, Biino, G, Boehnke, M, Boerwinkle, E, Boissel, M, Bottinger, E P, Boutin, T S, Brenner, H, Brumat, M, Burkhardt, R, Butterworth, A S, Campana, E, Milaneschi, Y, Penninx, B W J H, Köttgen, A, Pattaro, C, Lifelines Cohort Study & V. A. Million Veteran Program 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Nature Genetics, Vol. 51, No 6 (2019) pp. 957-972
Wuttke, M, Li, Y, Li, M, Sieber, K B, Feitosa, M F, Gorski, M, Tin, A, Wang, L, Chu, A Y, Hoppmann, A, Kirsten, H, Giri, A, Chai, J F, Sveinbjornsson, G, Tayo, B O, Nutile, T, Fuchsberger, C, Marten, J, Cocca, M, Ghasemi, S, Xu, Y, Horn, K, Noce, D, van der Most, P J, Sedaghat, S, Yu, Z, Akiyama, M, Afaq, S, Ahluwalia, T S, Almgren, P, Amin, N, Ärnlöv, J, Bakker, S J L, Bansal, N, Baptista, D, Bergmann, S, Biggs, M L, Biino, G, Boehnke, M, Boerwinkle, E, Boissel, M, Bottinger, E P, Boutin, T, Brenner, H, Brumat, M, Campbell, A, Campbell, H, Hayward, C, Joshi, P K, Kerr, S, Lim, S-C, Lind, L, Lindgren, C M, Liu, J, Liu, J, Loeffler, M, Loos, R J F, Lucae, S, Lukas, M A, Lyytikäinen, L-P, Mägi, R, Magnusson, P K E, Mahajan, A, Martin, N G, Martins, J, März, W, Mascalzoni, D, Matsuda, K, Meisinger, C, Meitinger, T, Melander, O, Metspalu, A, Mikaelsdottir, E K, Milaneschi, Y, Miliku, K, Mishra, P P, Mohlke, K L, Montgomery, G W, Mychaleckyj, J C, Nadkarni, G N, Nalls, M A, Nauck, M, Nikus, K, Ning, B, Nolte, I M, Noordam, R, O’Connell, J R, O'Donoghue, M L, Olafsson, I, Oldehinkel, A J, Orho-Melander, M, Ouwehand, W H, Padmanabhan, S, Palmer, N D, Palsson, R, Penninx, B W J H, Perls, T, Perola, M, Pirastu, M, Pirastu, N, Pistis, G, Podgornaia, A I, Polasek, O, Ponte, B, Porteous, D J, Poulain, T, Pramstaller, P P, Preuss, M H, Prins, B P, Province, M A, Rabelink, T J, Raffield, L M, Raitakari, O T, Reilly, D F, Rettig, R, Rheinberger, M, Rice, K M, Ridker, P M, Rivadeneira, F, Rizzi, F, Roberts, D J, Robino, A, Rossing, P, Rudan, I, Rueedi, R, Ruggiero, D, Ryan, K A, Saba, Y, Sabanayagam, C, Salomaa, V, Salvi, E, Saum, K-U, Schmidt, H, Schmidt, R, Schöttker, B, Schulz, C-A, Schupf, N, Shaffer, C M, Shi, Y, Smith, A V, Smith, B H, Soranzo, N, Spracklen, C N, Strauch, K, Stringham, H M, Stumvoll, M, Svensson, P O, Szymczak, S, Tai, E-S, Tajuddin, S M, Tan, N Y Q, Taylor, K D, Teren, A, Tham, Y-C, Thiery, J, Thio, C H L, Thomsen, H, Thorleifsson, G, Toniolo, D, Tönjes, A, Tremblay, J, Tzoulaki, I, Uitterlinden, A G, Vaccargiu, S, van Dam, R M, van der Harst, P, van Duijn, C M, Velez Edwards, D R, Verweij, N, Vogelezang, S, Völker, U, Vollenweider, P, Waeber, G, Waldenberger, M, Wallentin, L, Wang, Y X, Wang, C, Waterworth, D M, Wei, W B, White, H, Whitfield, J B, Wild, S H, Wilson, J F, Wojczynski, M K, Wong, C, Wong, T-Y, Xu, L, Yang, Q, Yasuda, M, Yerges-Armstrong, L M, Zhang, W, Zonderman, A B, Rotter, J I, Bochud, M, Psaty, B M, Vitart, V, Wilson, J G, Dehghan, A, Parsa, A, Chasman, D I, Ho, K, Morris, A P, Devuyst, O, Akilesh, S, Pendergrass, S A, Sim, X, Böger, C A, Okada, Y, Edwards, T L, Snieder, H, Stefansson, K, Hung, A M, Heid, I M, Scholz, M & Teumer, A & Köttgen, A & Pattaro, C 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Wuttke, M, Li, Y, Li, M, Sieber, K B, Feitosa, M F, Gorski, M, Tin, A, Wang, L, Chu, A Y, Hoppmann, A, Kirsten, H, Giri, A, Chai, J F, Sveinbjornsson, G, Tayo, B O, Nutile, T, Fuchsberger, C, Marten, J, Cocca, M, Ghasemi, S, Xu, Y, Horn, K, Noce, D, van der Most, P J, Sedaghat, S, Yu, Z, Akiyama, M, Afaq, S, Ahluwalia, T S, Almgren, P, Amin, N, Ärnlöv, J, Bakker, S J L, Bansal, N, Baptista, D, Bergmann, S, Biggs, M L, Biino, G, Boehnke, M, Boerwinkle, E, Boissel, M, Bottinger, E P, Boutin, T S, Brenner, H, Brumat, M, Burkhardt, R, Butterworth, A S, Campana, E, Christensen, K, Lifelines Cohort Study & V. A. Million Veteran Program 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Nature Genetics, 51(6), 957-972. Nature Publishing Group
Nature Genetics, 51(6), 957
LifeLines Cohort Study 2019, ' A catalog of genetic loci associated with kidney function from analyses of a million individuals ', Nature Genetics, vol. 51, no. 6, pp. 957-972 . https://doi.org/10.1038/s41588-019-0407-x
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replicati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d842e5870d96fbdf3b85afc3214ae6
https://eprints.gla.ac.uk/188448/1/188448.pdf
https://eprints.gla.ac.uk/188448/1/188448.pdf
Autor:
Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis In'T., Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Furie, Bruce, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, de Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, M. lanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Man, Patrick Yu Wai, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, Mackenzieross, Rob V., Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, Dacosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, Lynch, Andy G.
Publikováno v:
Scientific reports, 8(1). Nature Publishing Group
Scientific Reports
Scientific Reports, 8(1):1300. Nature Publishing Group
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H IT, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, de Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M L, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, ' Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, no. 1, 1300 . https://doi.org/10.1038/s41598-017-14403-y
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H I T, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango-Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T W, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, ' Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, 1300 . https://doi.org/10.1038/s41598-017-14403-y
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
SCIENTIFIC REPORTS
Farmery, J H R, Smith, M L & Koziell, A & Lynch, A G 2018, ' Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, no. 1, 1300 . https://doi.org/10.1038/s41598-017-14403-y
Scientific Reports
Scientific Reports, 8(1):1300. Nature Publishing Group
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H IT, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, de Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M L, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, ' Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, no. 1, 1300 . https://doi.org/10.1038/s41598-017-14403-y
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H I T, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango-Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T W, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, ' Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, 1300 . https://doi.org/10.1038/s41598-017-14403-y
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
SCIENTIFIC REPORTS
Farmery, J H R, Smith, M L & Koziell, A & Lynch, A G 2018, ' Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, no. 1, 1300 . https://doi.org/10.1038/s41598-017-14403-y
Funding: Cancer Research UK Programme Grant to Simon Tavaré (C14303/A17197) (JHRF, AGL, MLS); European Commission through the Horizon 2020 project SOUND (Grant Agreement no. 633974) (AGL). Telomere length is a risk factor in disease and the dynamics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef97ec48e4fd06247b5e4035469b2cf
https://pure.amc.nl/en/publications/telomerecat-a-ploidyagnostic-method-for-estimating-telomere-length-from-whole-genome-sequencing-data(d426a425-dc71-40bb-ace0-dde9fbf4facc).html
https://pure.amc.nl/en/publications/telomerecat-a-ploidyagnostic-method-for-estimating-telomere-length-from-whole-genome-sequencing-data(d426a425-dc71-40bb-ace0-dde9fbf4facc).html
Autor:
Hinney, A., Kesselmeier, M., Huckins, Laura M, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, Dikeos, Dimitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Southam, Lorraine, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L, Levitan, Robert D, Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Rayner, N William, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Tachmazidou, Ioanna, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, Klump, Kelly L, Dick, Danielle M, Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A, Espeseth, Thomas, Lundervold, Astri, Reinvang, Ivar, Steen, Vidar M, Hellard, Stephanie Le, Treasure, Janet, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W, Aschauer, Harald, Lewis, Cathryn M, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Logan, Darren W, Schmidt, Ulrike, Peltonen, Leena, Ritchie, Graham R S, Barrett, Jeff C, Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Collier, David A, Zeggini, Eleftheria, Bulik, Cynthia M, Anderson, Carl A, Tozzi, Federica, Barrett, Jeffrey C, Floyd, James A B, Franklin, Christopher S, McGinnis, Ralph, Sambrook, Jennifer, Stephens, Jonathan, Ouwehand, Willem H, McArdle, Wendy L, iezebrink, Kirsty, Ring, Susan M, Strachan, David P, Alexander, Graeme, Conlon, Peter J, Dominiczak, Anna, Duncanson, Audrey, Hill, Adrian, Langford, Cordelia, Jall, S., Hebebrand, Johannes, Lord, Graham, Maxwell, Alexander P, Morgan, Linda, Sandford, Richard N, Sheerin, Neil, Vannberg, Frederik O, Blackburn, Hannah, Chen, Wei-Min, Edkins, Sarah, Gorwood, Philip, Gillman, Mathew, Gray, Emma, Hunt, Sarah E, Nengut-Gumuscu, Suna, Potter, Simon, Rich, Stephen S, Simpkin, Douglas, Whittaker, Pamela, Heid, I. M., Winkler, T. W., Adan, Roger A H, de Bakker, P., Bültmann, U., Geleijnse, M., Harst, P. V., Koppelman, G., Rosmalen, J. G., van Rossum, L., Smidt, H., Swertz, M. A., Stolk, R. P., Kas, Martien J H, Alizadeh, B., de Boer, R., Boezen, H. M., Bruinenberg, M., Franke, L., van der Harst, P., Hillege, H., van der Klauw, M., Navis, G., Ormel, J., Favaro, Angela, Postma, D., Rosmalen, J., Slaets, J., Snieder, H., Stolk, R., Wolffenbuttel, B., Wijmenga, C., Berg, J., Blackwood, D., Campbell, H., Santonastaso, Paolo, Cavanagh, J., Connell, J., Connor, M., Cunningham-Burley, S., Deary, I., Dominiczak, A., Ellis, P., FitzPatrick, B., Ford, I., Gertz, R., Fernández-Aranda, Fernando, Grau, A., Haddow, G., Jackson, C., Kerr, S., Lindsay, R., McGilchrist, M., McIntyre, D., Morris, A., Morton, R., Muir, W., Gratacos, Monica, Murray, G., Palmer, C., Pell, J., Philp, A., Porteous, D., Porteous, M., Procter, R., Ralston, S., Reid, D., Sinnott, R., Rybakowski, Filip, Smith, B., Clair, D. S., Sullivan, F., Sweetland, M., Ure, J., Watt, G., Wolf, R., Wright, A., Berndt, S. I., Gustafsson, S., Dmitrzak-Weglarz, Monika, Mägi, R., Ganna, A., Wheeler, E., Feitosa, M. F., Justice, A. E., Monda, K. L., Croteau- Chonka, D. C., Day, F. R., Esko, T., Fall, T., Volckmar, A-L, Kaprio, Jaakko, Ferreira, T., Gentilini, D., Jackson, A. U., Luan, J., Randall, J. C., Vedantam, S., Willer, C. J., Wood, A. R., Workalemahu, T., Keski-Rahkonen, Anna, Hu, Y. J., Lee, S. H., Liang, L., Lin, D. Y., Min, J. L., Neale, B. M., Thorleifsson, G., Yang, J., Albrecht, E., Amin, N., Raevuori-Helkamaa, Anu, Bragg-Gresham, J. L., Cadby, G., den Heijer, M., Eklund, N., Fischer, K., Goel, A., Hottenga, J. J., Huffman, J. E., Jarick, I., Johansson, A., Van Furth, Eric F, Johnson, T., Kanoni, S., Kleber, M. E., König, I. R., Kristiansson, K., Kutalik, Z., Lamina, C., Lecoeur, C., Li, G., Mangino, M., Slof-Op't Landt, Margarita C T, McArdle, W. L., Medina-Gomez, C., Müller-Nurasyid, M., Ngwa, J. S., Nolte, I. M., Paternoster, L., Pechlivanis, S., Perola, M., Peters, M. J., Preuss, M., Hudson, James I, Rose, L. M., Shi, J., Shungin, D., Smith, A. V., Strawbridge, R. J., Surakka, I., Teumer, A., Trip, M. D., Tyrer, J., Van Vliet- Ostaptchouk, J. V., Reichborn-Kjennerud, Ted, Vandenput, L., Waite, L. L., Zhao, J. H., Absher, D., Asselbergs, F. W., Atalay, M., Attwood, A. P., Balmforth, A. J., Basart, H., Beilby, J., Knudsen, Gun Peggy S, Bonnycastle, L. L., Brambilla, P., Chasman, D. I., Chines, P. S., Collins, F. S., Connell, J. M., Cookson, W., de Faire, U., Monteleone, Palmiero, de Vegt, F., Dei, M., Dimitriou, M., Edkins, S., Estrada, K., Evans, D. M., Farrall, M., Ferrario, M. M., Ferrières, J., Kaplan, Allan S, Frau, F., Gejman, P. V., Grallert, H., Grönberg, H., Gudnason, V., Hall, A. S., Hall, P., Hartikainen, A. L., Hayward, C., Heard-Costa, N. L., Föcker, M., Karwautz, Andreas, Heath, A. C., Hebebrand, J., Homuth, G., Hu, F. B., Hunt, S. E., Hyppönen, E., Iribarren, C., Jacobs, K. B., Jansson, J. O., Jula, A., Hakonarson, Hakon, Kähönen, M., Kathiresan, S., Kee, F., Khaw, K. T., Kivimaki, M., Koenig, W., Kraja, A. T., Kumari, M., Kuulasmaa, K., Kuusisto, J., Berrettini, Wade H, Laitinen, J. H., Lakka, T. A., Langenberg, C., Launer, L. J., Lind, L., Lindström, J., Liu, J., Liuzzi, A., Lokki, M. L., Lorentzon, M., Guo, Yiran, Madden, P. A., Magnusson, P. K., Manunta, P., Marek, D., März, W., Mateo Leach, I., McKnight, B., Medland, S. E., Mihailov, E., Milani, L., Li, Dong, Montgomery, G. W., Mooser, V., Mühleisen, T. W., Munroe, P. B., Musk, A. W., Narisu, N., Nicholson, G., Nohr, E. A., Ong, K. K., Schork, Nicholas J, Oostra, B. A., Palmer, C. N., Palotie, A., Peden, J. F., Pedersen, N., Peters, A., Polasek, O., Pouta, A., Pramstaller, P. P., Prokopenko, I., Komaki, Gen, Pütter, C., Radhakrishnan, A., Raitakari, O., Rendon, A., Rivadeneira, F., Rudan, I., Saaristo, T. E., Sambrook, J. G., Sanders, A. R., Sanna, S., Ando, Tetsuya, Saramies, J., Schipf, S., Schreiber, S., Schunkert, H., Shin, S. Y., Signorini, S., Sinisalo, J., Skrobek, B., Soranzo, N., Stancakova, A., Inoko, Hidetoshi, Stark, K., Stephens, J. C., Stirrups, K., Stumvoll, M., Swift, A. J., Theodoraki, E. V., Thorand, B., Tregouet, D. A., Tremoli, E., Esko, Tõnu, Van der Klauw, M. M., van Meurs, J. B., Vermeulen, S. H., Viikari, J., Virtamo, J., Vitart, V., Waeber, G., Wang, Z., Widen, E., Wild, S. H., Antel, J., Fischer, Krista, Willemsen, G., Winkelmann, B. R., Witteman, J. C., Wolffenbuttel, B. H., Wong, A., Wright, A. F., Zillikens, M., Amouyel, P., Boehm, B. O., Boerwinkle, E., Männik, Katrin, Boomsma, D. I., Caulfield, M. J., Chanock, S. J., Cupples, L., Cusi, D., Dedoussis, G. V., Erdmann, J., Eriksson, J. G., Franks, P. W., Froguel, P., Metspalu, Andres, Gieger, C., Gyllensten, U., Hamsten, A., Harris, T. B., Hengstenberg, C., Hicks, A. A., Hingorani, A., Hofman, A., Hovingh, K. G., Baker, Jessica H, Hveem, K., Illig, T., Jarvelin, M. R., Jöckel, K. H., Keinanen-Kiukaanniemi, S. M., Kiemeney, L. A., Kuh, D., Laakso, M., Lehtimäki, T., Levinson, D. F., Cone, Roger D, Martin, N. G., Metspalu, A., Morris, A. D., Nieminen, M. S., Njølstad, I., Ohlsson, C., Oldehinkel, A. J., Ouwehand, W. H., Palmer, L. J., Penninx, B., Dackor, Jennifer, Power, C., Province, M. A., Psaty, B. M., Qi, L., Rauramaa, R., Ridker, P. M., Ripatti, S., Salomaa, V., Samani, N. J., DeSocio, Janiece E, Sørensen, T. I., Spector, T. D., Stefansson, K., Tönjes, A., Tuomilehto, J., Uitterlinden, A. G., Uusitupa, M., Vollenweider, P., Wallaschofski, H., Hilliard, Christopher E, Wareham, N. J., Watkins, H., Wichmann, H, Wilson, J. F., Abecasis, G. R., Assimes, T. L., Barroso, I., Boehnke, M., Borecki, I. B., Deloukas, P., O'Toole, Julie K, Fox, C. S., Frayling, T., Groop, L. C., Haritunian, T., Hunter, D., Kaplan, R. C., Karpe, F., Moffatt, M., Mohlke, K. L., Pantel, Jacques, O'Connell, J. R., Pawitan, Y., Schadt, E. E., Schlessinger, D., Steinthorsdottir, V., Strachan, D. P., Thorsteinsdottir, U., van Duijn, C. M., Visscher, P. M., Di Blasio, A. M., Perica, Vesna Boraska, Szatkiewicz, Jin P, Hirschhorn, J. N., Lindgren, C. M., Morris, A. P., Meyre, D., Scherag, A., McCarthy, M. I., Speliotes, E. K., North, K. E., Loos, R. J., Grant, S. F. A., Taico, Chrysecolla, Adair, L. S., Ang, W., van Beijsterveldt, T., Bergen, N., Benke, K., Berry, D. J., Bradfield, J. P., Charoen, P., Zerwas, Stephanie, Coin, L., Cooper, C., Cousminer, D. L., Das, S., Davis, O. S., Elliott, P., Estivill, X., Feenstra, B., Trace, Sara E, Flexeder, C., Freathy, R. M., Gaillard, R., Geller, F., Gillman, M., Grant, S. F., Groen-Blokhuis, M., Goh, L. K., Guxens, M., Davis, Oliver S P, Hakonarson, H., Hattersley, A. T., Haworth, C. M., Hadley, D., Heinrich, J., Hocher, B., Holloway, J. W., Helder, Sietske, Holst, C., Horikoshi, M., Huikari, V., Hypponen, E., Iñiguez, C., Jaddoe, V. W., Kaakinen, M., Kilpeläinen, T. O., Bühren, Katharina, Kirin, M., Kowgier, M., Lakka, H. M., Lange, L. A., Lawlor, D. A., Lewin, A., Lindgren, C., Lindi, V., Burghardt, Roland, Maggi, R., Marsh, J., Melbye, M., Middeldorp, C., Millwood, I., Mook-Kanamori, D. O., Murray, J. C., Nivard, M., de Zwaan, Martina, Ntalla, I., Oken, E., O'Reilly, P. F., Panoutsopoulou, K., Pararajasingham, J., Pearson, E. R., Pennell, C. E., Egberts, Karin, Price, T. S., Raitakari, O. T., Rodriguez, A., Salem, R. M., Saw, S. M., Sebert, S., Siitonen, N., Ehrlich, Stefan, Simell, O., Sovio, U., Pourcain, B. S., Sunyer, J., Taal, H. R., Teo, Y. Y., Thiering, E., Tiesler, C., Herpertz-Dahlmann, Beate, Timpson, N. J., Valcárcel, B., Warrington, N. M., White, S., Widén, E., Yaghootkar, H., Zeggini, E., Herzog, Wolfgang, Elks, C. E., Perry, J. R., Sulem, P., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., Imgart, Hartmut, Gudbjartsson, D. F., Koller, D. L., Lin, P., Marongiu, M., McArdle, P. F., Scherag, André, Stolk, L., van Wingerden, S. H., Corre, T., Ingelsson, E., Smith, E. N., Scherag, Susann, Ulivi, S., Warrington, M., Zgaga, L., Alavere, H., Aspelund, T., Bandinelli, S., Berenson, G. S., Bergmann, S., Zipfel, Stephan, Blackburn, H., Buring, J. E., Busonero, F., Chen, W., Cornelis, M. C., Couper, D., Coviello, A. D., Boni, Claudette, d'Adamo, P., de Geus, E. J., Döring, A., Davey Smith, G., Easton, D. F., Eiriksdottir, G., Emilsson, V., Eriksson, J., Ramoz, Nicolas, Ferrucci, L., Folsom, A. R., Foroud, T., Garcia, M., Gasparini, P., Hankinson, S. E., Versini, Audrey, Ferreli, L., Hernandez, D. G., Järvelin, M. R., Johnson, A. D., Karasik, D., Brandys, Marek K, Kiel, D. P., Kolcic, I., Kraft, P., Laven, J. S., Li, S., Levy, D., Danner, Unna N, Murray, S. S., Nalls, M. A., Navarro, P., Nelis, M., Ness, A. R., Northstone, K., de Kove, Carolien, Peacock, M., Paré, G., Parker, A. N., Pedersen, N. L., Peltonen, L., Pharoah, P., Hendriks, Judith, Plump, A. S., Porcu, E., Rafnar, T., Rice, J. P., Ring, S. M., Sala, C., Koeleman, Bobby P C, Schork, N. J., Scuteri, A., Segrè, A. V., Shuldiner, A. R., Srinivasan, S. R., Ophoff, Roel A, Tammesoo, M. L., Tikkanen, E., Toniolo, D., Tsui, K., Tryggvadottir, L., Uda, M., van Dam, R. M., Strengman, Eric, Waterworth, D. M., Weedon, M. N., Wichmann, H. E., Young, L., van Elburg, Annemarie A, Zhai, G., Zhuang, W. V., Bierut, L. J., Boyd, H. A., Crisponi, L., Demerath, E. W., Econs, M. J., Hunter, D. J., Bruson, Alice, Streeten, E. A., Clementi, Maurizio, Murabito, J. M., Murray, A., Guo, Y., Bergen, A. W., Kaye, W., Berrettini, W., Brandt, Harry, Crawford, Steve, Thornton, Laura M, Degortes, Daniela, Crow, Scott, Fichter, Manfred M, Halmi, Katherine A, Johnson, Craig, Via, Maria La, Mitchell, James, Strober, Michael, Rotondo, Alessandro, Forzan, Monica, Woodside, D Blake, Keel, Pamela, Lilenfeld, Lisa, Plotnicov, Kathy, Bergen, Andrew W, Berrettini, Wade, Kaye, Walter, Tenconi, Elena, Magistretti, Pierre, Herpertz-Dahlmann, B., de Zwaan, M., Herzog, W., Ehrlich, S., Zipfel, S., Egberts, K. M., Adan, R., Brandys, M., van Elburg, A., Docampo, Elisa, Boraska Perica, V., Franklin, C. S., Tschöp, M. H., Bulik, C. M., Collier, D., Müller, T. D., Escaramí, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka
Publikováno v:
Molecular Psychiatry, 22, 2, pp. 192-201
Molecular psychiatry, 22(2), 192-201. Nature Publishing Group
Molecular Psychiatry, 22, 192. Nature Publishing Group
GCAN 2017, ' Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index ', Molecular Psychiatry, vol. 22, no. 2, pp. 192-201 . https://doi.org/10.1038/mp.2016.71
Molecular Psychiatry, 22(2), 192-201. Nature Publishing Group
Mol Psychiatry
Molecular Psychiatry, 22, 192-201
Hinney, A, Kesselmeier, M, Jall, S, Volckmar, A-L, Föcker, M, Antel, J, Heid, I M, Winkler, T W, Grant, S F A, Guo, Y, Bergen, A W, Kaye, W, Berrettini, W, Hakonarson, H, Herpertz-Dahlmann, B, de Zwaan, M, Herzog, W, Ehrlich, S, Zipfel, S, Egberts, K M, Adan, R, Brandys, M, van Elburg, A, Boraska Perica, V, Franklin, C S, Tschöp, M H, Zeggini, E, Bulik, C M, Collier, D, Scherag, A, Müller, T D, Hebebrand, J, GCAN, Hottenga, J J, Willemsen, G, Boomsma, D I, van Beijsterveldt, C E M, Middeldorp, C M & de Geus, E 2017, ' Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index ', Molecular Psychiatry, vol. 22, no. 2, pp. 192-201 . https://doi.org/10.1038/mp.2016.71
Molecular psychiatry 22(2), 192-201 (2017). doi:10.1038/mp.2016.71
Molecular psychiatry, vol 22, iss 2
Dipòsit Digital de la UB
Universidad de Barcelona
Molecular Psychiatry
Recercat. Dipósit de la Recerca de Catalunya
instname
Molecular psychiatry, 22(2), 192-201. Nature Publishing Group
Molecular Psychiatry, 22, 192. Nature Publishing Group
GCAN 2017, ' Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index ', Molecular Psychiatry, vol. 22, no. 2, pp. 192-201 . https://doi.org/10.1038/mp.2016.71
Molecular Psychiatry, 22(2), 192-201. Nature Publishing Group
Mol Psychiatry
Molecular Psychiatry, 22, 192-201
Hinney, A, Kesselmeier, M, Jall, S, Volckmar, A-L, Föcker, M, Antel, J, Heid, I M, Winkler, T W, Grant, S F A, Guo, Y, Bergen, A W, Kaye, W, Berrettini, W, Hakonarson, H, Herpertz-Dahlmann, B, de Zwaan, M, Herzog, W, Ehrlich, S, Zipfel, S, Egberts, K M, Adan, R, Brandys, M, van Elburg, A, Boraska Perica, V, Franklin, C S, Tschöp, M H, Zeggini, E, Bulik, C M, Collier, D, Scherag, A, Müller, T D, Hebebrand, J, GCAN, Hottenga, J J, Willemsen, G, Boomsma, D I, van Beijsterveldt, C E M, Middeldorp, C M & de Geus, E 2017, ' Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index ', Molecular Psychiatry, vol. 22, no. 2, pp. 192-201 . https://doi.org/10.1038/mp.2016.71
Molecular psychiatry 22(2), 192-201 (2017). doi:10.1038/mp.2016.71
Molecular psychiatry, vol 22, iss 2
Dipòsit Digital de la UB
Universidad de Barcelona
Molecular Psychiatry
Recercat. Dipósit de la Recerca de Catalunya
instname
The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to obese. After recovery, patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe0fa762e65248741075d19c9dc455b2
https://hdl.handle.net/2066/169662
https://hdl.handle.net/2066/169662
Autor:
Benyamin, Beben, Esko, Tonu, Ried, Janina S, Radhakrishnan, Aparna, Vermeulen, Sita H, Traglia, Michela, Gögele, Martin, Anderson, Denise, Broer, Linda, Podmore, Clara, Luan, Jian'An, Kutalik, Zoltan, Sanna, Serena, van der Meer, Peter, Tanaka, Toshiko, Wang, Fudi, Westra, Harm Jan, Franke, Lude, Mihailov, Evelin, Milani, Lili, Hälldin, Jonas, Häldin, Jonas, Winkelmann, Juliane, Meitinger, Thomas, Thiery, Joachim, Peters, Annette, Waldenberger, Melanie, Rendon, Augusto, Jolley, Jennifer, Sambrook, Jennifer, Kiemeney, Lambertus A, Sweep, Fred C, Sala, Cinzia F, Schwienbacher, Christine, Pichler, Irene, Hui, Jennie, Demirkan, Ayse, Isaacs, Aaron, Amin, Najaf, Steri, Maristella, Waeber, Gérard, Verweij, Niek, Powell, Joseph E, Nyholt, Dale R, Heath, Andrew C, Madden, Pamela A. F, Visscher, Peter M, Wright, Margaret J, Montgomery, Grant W, Martin, Nicholas G, Hernandez, Dena, Bandinelli, Stefania, van der Harst, Pim, Uda, Manuela, Vollenweider, Peter, Scott, Robert A, Langenberg, Claudia, Wareham, Nicholas J, van Duijn, Cornelia, Beilby, John, Pramstaller, Peter P, Hicks, Andrew A, Ouwehand, Willem H, Oexle, Konrad, Gieger, Christian, Metspalu, Andres, Camaschella, Clara, Toniolo, Daniela, Swinkels, Dorine W, Whitfield, John B., PANICO, SALVATORE
Publikováno v:
Nature communications
Nature Communications, 5, 4926
Nature Communications, 5, pp. 4926
Nature Communications, 5. Nature Publishing Group
Nature Communications
Nature Communications, 5:4926. Nature Publishing Group
Benyamin, B, Esko, T, Ried, J S, Radhakrishnan, A, Vermeulen, S H, Traglia, M, Gögele, M, Anderson, D, Broer, L, Podmore, C, Luan, J, Kutalik, Z, Sanna, S, van der Meer, P, Tanaka, T, Wang, F, Westra, H-J, Franke, L, Mihailov, E, Milani, L, Häldin, J, Winkelmann, J, Meitinger, T, Thiery, J, Peters, A, Waldenberger, M, Rendon, A, Jolley, J, Sambrook, J, Kiemeney, L A, Sweep, F C, Sala, C F, Schwienbacher, C, Pichler, I, Hui, J, Demirkan, A, Isaacs, A, Amin, N, Steri, M, Waeber, G, Verweij, N, Powell, J E, Nyholt, D R, Heath, A C, Madden, P A F, Visscher, P M, Wright, M J, Montgomery, G W, Martin, N G & InterAct consortium (Kim Overvad; member) 2014, ' Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis ', Nature Communications, vol. 5, pp. 4926 . https://doi.org/10.1038/ncomms5926
Nature Communications, vol. 5, no. 12, pp. 4926
Nature Communications, 5, 4926
Nature Communications, 5, pp. 4926
Nature Communications, 5. Nature Publishing Group
Nature Communications
Nature Communications, 5:4926. Nature Publishing Group
Benyamin, B, Esko, T, Ried, J S, Radhakrishnan, A, Vermeulen, S H, Traglia, M, Gögele, M, Anderson, D, Broer, L, Podmore, C, Luan, J, Kutalik, Z, Sanna, S, van der Meer, P, Tanaka, T, Wang, F, Westra, H-J, Franke, L, Mihailov, E, Milani, L, Häldin, J, Winkelmann, J, Meitinger, T, Thiery, J, Peters, A, Waldenberger, M, Rendon, A, Jolley, J, Sambrook, J, Kiemeney, L A, Sweep, F C, Sala, C F, Schwienbacher, C, Pichler, I, Hui, J, Demirkan, A, Isaacs, A, Amin, N, Steri, M, Waeber, G, Verweij, N, Powell, J E, Nyholt, D R, Heath, A C, Madden, P A F, Visscher, P M, Wright, M J, Montgomery, G W, Martin, N G & InterAct consortium (Kim Overvad; member) 2014, ' Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis ', Nature Communications, vol. 5, pp. 4926 . https://doi.org/10.1038/ncomms5926
Nature Communications, vol. 5, no. 12, pp. 4926
Contains fulltext : 137523.pdf (Publisher’s version ) (Open Access) Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status f
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Publikováno v:
Nature, 518(7538), 197-206. Nature Publishing Group
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Nature, 518(7538), 197. Nature Publishing Group
Nature
Nature, 518(7538), 197-U401
Nature, Vol. 518, No 7538 (2015) pp. 197-206
Nature, vol. 518, no. 7538, pp. 197-206
Nature 518(7538), 197-206 (2015). doi:10.1038/nature14177
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Locke, A E, Kahali, B, Berndt, S I, Justice, A E, Pers, T H, Day, F R, Powell, C, Vedantam, S, Buchkovich, M L, Yang, J, Croteau-Chonka, D C, Esko, T, Fall, T, Ferreira, T, Gustafsson, S, Kutalik, Z, Luan, J, Maegi, R, Randall, J C, Winkler, T W, Wood, A R, Workalemahu, T, Faul, J D, Smith, J A, Zhao, J H, Zhao, W, Chen, J, Fehrmann, R, Hedman, A K, Karjalainen, J, Schmidt, E M, Absher, D, Amin, N, Anderson, D, Beekman, M & Bolton, J L & Bragg-Gresham, L & Buyske, S & Demirkan, A & Deng, G & Fraser, R M & Hayward, C & McLachlan, S & Campbell, H & Morris, A D & Price, J F & Rudan, I & Walker, M & Wilson, J F & Visscher, P M 2015, ' Genetic studies of body mass index yield new insights for obesity biology ', Nature, vol. 518, no. 7538, pp. 197-U401 . https://doi.org/10.1038/nature14177
Nature, 518(7538), 197-U401. Nature Publishing Group
Nature, 518, 7538, pp. 197-206
Nature, 518, 197-206
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Abecasis, G R, Franke, L, Frayling, T M, McCarthy, M I, Visscher, P M, Scherag, A, Willer, C J, Boehnke, M, Mohlke, K L, Lindgren, C M, Beckmann, J S, Barroso, I, North, K E, Ingelsson, E, Hirschhorn, J N, Loos, R J F & Speliotes, E K 2015, ' Genetic studies of body mass index yield new insights for obesity biology ', Nature, vol. 518, no. 7538, pp. 197-206 . https://doi.org/10.1038/nature14177
Nature, 518(7538), 197. Nature Publishing Group
Nature
Nature, 518(7538), 197-U401
Nature, Vol. 518, No 7538 (2015) pp. 197-206
Nature, vol. 518, no. 7538, pp. 197-206
Nature
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Locke, A E, Kahali, B, Berndt, S I, Justice, A E, Pers, T H, Day, F R, Powell, C, Vedantam, S, Buchkovich, M L, Yang, J, Croteau-Chonka, D C, Esko, T, Fall, T, Ferreira, T, Gustafsson, S, Kutalik, Z, Luan, J, Maegi, R, Randall, J C, Winkler, T W, Wood, A R, Workalemahu, T, Faul, J D, Smith, J A, Zhao, J H, Zhao, W, Chen, J, Fehrmann, R, Hedman, A K, Karjalainen, J, Schmidt, E M, Absher, D, Amin, N, Anderson, D, Beekman, M & Bolton, J L & Bragg-Gresham, L & Buyske, S & Demirkan, A & Deng, G & Fraser, R M & Hayward, C & McLachlan, S & Campbell, H & Morris, A D & Price, J F & Rudan, I & Walker, M & Wilson, J F & Visscher, P M 2015, ' Genetic studies of body mass index yield new insights for obesity biology ', Nature, vol. 518, no. 7538, pp. 197-U401 . https://doi.org/10.1038/nature14177
Nature, 518(7538), 197-U401. Nature Publishing Group
Nature, 518, 7538, pp. 197-206
Nature, 518, 197-206
Item does not contain fulltext Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9c5084ccf8e95018f370ac56cecd0a
https://research.vu.nl/en/publications/58992b26-1689-48dd-bb82-82548598fe61
https://research.vu.nl/en/publications/58992b26-1689-48dd-bb82-82548598fe61
Autor:
Shungin, Dmitry, Winkler, Thomas W, Workalemahu, Tsegaselassie, Hartman, Catharina A, Duncan, Emma L, Ntzani, Evangelia E, Oei, Ling, Albagha, Omar M E, Amin, Najaf, Kemp, John P, Koller, Daniel L, Li, Guo, Liu, Ching-Ti, Minster, Ryan L, Hassinen, Maija, Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M, Zheng, Hou-Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M, Kaptoge, Stephen K, Hayward, Caroline, Leo, Paul J, Thorleifsson, Gudmar, Wilson, Scott G, Wilson, James F, Aalto, Ville, Alen, Markku, Aragaki, Aaron K, Aspelund, Thor, Center, Jacqueline R, Dailiana, Zoe, Heikkilä, Kauko, Duggan, David J, Garcia, Melissa, Garcia-Giralt, Natàlia, Giroux, Sylvie, Hallmans, Göran, Hocking, Lynne J, Husted, Lise Bjerre, Jameson, Karen A, Khusainova, Rita, Kim, Ghi Su, Herzig, Karl-Heinz, Kooperberg, Charles, Koromila, Theodora, Kruk, Marcin, Laaksonen, Marika, Lacroix, Andrea Z, Lee, Seung Hun, Leung, Ping C, Lewis, Joshua R, Masi, Laura, Mencej-Bedrac, Simona, Helmer, Quinta, Nguyen, Tuan V, Nogues, Xavier, Patel, Millan S, Prezelj, Janez, Rose, Lynda M, Scollen, Serena, Siggeirsdottir, Kristin, Smith, Albert V, Svensson, Olle, Trompet, Stella, Hillege, Hans L, Trummer, Olivia, van Schoor, Natasja M, Woo, Jean, Zhu, Kun, Balcells, Susana, Brandi, Maria Luisa, Buckley, Brendan M, Cheng, Sulin, Christiansen, Claus, Cooper, Cyrus, Holmen, Oddgeir, Dedoussis, George, Ford, Ian, Frost, Morten, Goltzman, David, González-Macías, Jesús, Kähönen, Mika, Karlsson, Magnus, Khusnutdinova, Elza, Koh, Jung-Min, Kollia, Panagoula, Hunt, Steven C, Langdahl, Bente Lomholt, Leslie, William D, Lips, Paul, Ljunggren, Östen, Lorenc, Roman S, Marc, Janja, Mellström, Dan, Obermayer-Pietsch, Barbara, Olmos, José M, Pettersson-Kymmer, Ulrika, Isaacs, Aaron, Reid, David M, Riancho, José A, Ridker, Paul M, Rousseau, François, Slagboom, P Eline, Tang, Nelson L S, Urreizti, Roser, Van Hul, Wim, Viikari, Jorma, Zarrabeitia, María T, Wu, Joseph M W, 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Publikováno v:
Nature, vol. 518, no. 7538, pp. 187-196
Nature
Nature, 2015, 518 (7538), pp.187-96. ⟨10.1038/nature14132⟩
Nature 518(7538), 187-196 (2015). doi:10.1038/nature14132
Nature, 518(7538), 187-U378. Nature Publishing Group
Nature, Nature Publishing Group, 2015, 518 (7538), pp.187-96. ⟨10.1038/nature14132⟩
Nature, 518(7538), 187-196. Nature Publishing Group
Nature, 518(7538), 187. Nature Publishing Group
Nature, 518(7538), 187-U378
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Sennblad, B, Seufferlein, T, Sitlani, C M, Smith, A V, Stirrups, K, Stringham, H M, Sundstrom, J, Swertz, M A, Swift, A J, Syvanen, A, Tayo, B O, Thorand, B, Thorleifsson, G, Tomaschitz, A, Troffa, C, van Oort, F V A, Verweij, N, Vonk, J M, Waite, L L, Wennauer, R, Wilsgaard, T, Wojczynski, M K, Wong, A, Zhang, Q, Zhao, J H, Brennan, E P, Choi, M, Eriksson, P, Folkersen, L, Franco-Cereceda, A, Gharavi, A G, Hedman, A K, Hivert, M, Huang, J, Kanoni, S, Karpe, F, Keildson, S, Kiryluk, K, Liang, L, Lifton, R P, Ma, B, McKnight, A J, McPherson, R, Metspalu, A, Min, J L, Moffatt, M F, Montgomery, G W, Murabito, J M, Nicholson, G, Nyholt, DR, Olsson, C, Perry, J R B, Reinmaa, E, Salem, R M, Sandholm, N, Schadt, E E, Scott, R A, Stolk, L, Vallejo, E E, Westra, H, Zondervan, K T, Amouyel, P, Arveiler, D, Bakker, S J L, Beilby, J, Bergman, R N, Blangero, J, Brown, M J, Burnier, M, Campbell, H, Chakravarti, A, Chiness, P S, Claudi-Boehmi, S, Collins, F S, Crawford, D C, Danesh, J, de Faire, U, de Geus, E J C, Doerr, M, Erbel, R, Eriksson, J G, Farrall, M, Ferrannini, E, Ferrieres, J, Forouhi, N G, Forrester, T, Franco, O H, Gansevoort, R T, Gieger, C, Gudnason, V, Haiman, C A, Harris, T B, Hattersley, A T, Heliovaara, M, Hicks, A A, Hingorani, A D, Hoffmann, W, Hofman, A, Homuth, G, Humphries, S E, Hyppoenen, E, Illig, T, Jarvelin, M, Johansen, B, Jousilahti, P, Jula, A M, Kaprio, J, Kee, F, Keinanen-Kiukaanniemi, S M, Kooner, J S, Kooperberg, C, Kovacs, P, Kraja, A T, Kumari, M, Kuulasmaa, K, Kuusisto, J, Lakka, T A, Langenberg, C, Le Marchand, L, Lehtimaki, T, Lyssenko, V, Mannisto, S, Marette, A, Matise, T C, McKenzie, C A, McKnight, B, Musk, A W, Mohlenkamp, S, Morris, A D, Nelis, M, Ohlsson, C, Oldehinkel, A J, Ong, K K, Palmer, L J, Penninx, B W J H, Peters, A, Pramstaller, P P, Raitakari, O T, Rankinen, T, Rao, D C, Rice, T K, Ridker, P M, Ritchie, M D, Rudan, I, Salomaa, V, Samani, N J, Saramies, J, Sarzynski, M A, Schwarz, P E H, Shuldiner, A R, Staessen, J A, Steinthorsdottir, V, Stolk, R P, Strauch, K, Toenjes, A, Tremblay, A, Tremoli, E, Vohl, M, Voelker, U, Vollenweider, P, Wilson, J F, Witteman, J C, Adair, L S, Bochud, M, Boehm, B O, Bornstein, S R, Bouchard, C, Cauchi, S, Caulfield, M J, Chambers, J C, Chasman, D I, Cooper, R S, Dedoussis, G, Ferrucci, L, Froguel, P, Grabe, H, Hamsten, A, Hui, J, Hveem, K, Joeckel, K, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Maerz, W, Munroe, P B, Njolstad, I, Oostra, B A, Palmer, C N A, Pedersen, N L, Perola, M, Perusse, L, Peters, U, Power, C, Quertermous, T, Rauramaa, R, Rivadeneira, F, Saaristo, T E, Saleheen, D, Sinisalo, J, Slagboom, P E, Snieder, H, Spector, T D, Thorsteinsdottir, U R, Stumvoll, M, Tuomilehto, J, Uitterlinden, A G, Uusitupa, M, van der Harst, P, Veronesi, G, Walker, M, Wareham, N J, Watkins, H, Wichmann, H, Abecasis, G R, Assimes, T L, Berndt, S I, Boehnkes, M, Borecki, I B, Deloukas, P, Franke, L, Frayling, T M, Groop, L C, Hunter, D J, Kaplan, R C, O'Connell, J R, Qi, L, Schlessinger, D, Strachan, D P, Stefansson, K, van Dujin, C M, Willer, C J, Visscher, P M, Yang, J, Hirschhorn, J N, Zillikens, M C, McCarthy, M I, Speliotes, E K, North, K E, Fox, C S, Barroso, I, Franks, P W, Ingelsson, E, Heid, I M, Loos, R J F, Cupples, L A, Morris, A P, Lindgren, C M & Mohlke, K L 2015, ' New genetic loci link adipose and insulin biology to body fat distribution ', Nature, vol. 518, no. 7538, pp. 187-196 . https://doi.org/10.1038/nature14132
Nature, Nature Publishing Group, 2015, 518 (7538), pp.187-96. 〈10.1038/nature14132〉
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature
Nature, 2015, 518 (7538), pp.187-96. ⟨10.1038/nature14132⟩
Nature
Nature, 518(7538), 187-U378. Nature Publishing Group
Nature, Nature Publishing Group, 2015, 518 (7538), pp.187-96. ⟨10.1038/nature14132⟩
Nature, 518(7538), 187-196. Nature Publishing Group
Nature, 518(7538), 187. Nature Publishing Group
Nature, 518(7538), 187-U378
Shungin, D, Winkler, T W, Croteau-Chonka, D C, Ferreira, T, Lockes, A E, Maegi, R, Strawbridge, R J, Pers, T H, Fischer, K, Justice, A E, Workalemahu, T, Wu, J M W, Buchkovich, M L, Heard-Costa, N L, Roman, T S, Drong, A W, Song, C, Gustafsson, S, Day, F R, Esko, T, Fall, T, Kutalik, Z, Luan, J, Randall, J C, Scherag, A, Vedantam, S, Wood, A R, Chen, J, Fehrmann, R, Karjalainen, J, Kahali, B, Liu, C, Schmidt, E M, Absher, D, Amin, N, Anderson, D, Beekman, M, Bragg-Gresham, J L, Buyske, S, Demirkan, A, Ehret, G B, Feitosa, M F, Goel, A, Jackson, A U, Johnson, T, Kleber, M E, Kristiansson, K, Mangino, M, Leach, I M, Medina-Gomez, C, Palmer, C D, Pasko, D, Pechlivaniss, S, Peters, MJ, Prokopenko, I, Stancakova, A, Sung, Y J, Tanakam, T, Teumer, A, van Vliet-Ostaptchouk, J V, Yengo, L, Zhang, W, Albrecht, E, Arnlov, J, Arscott, G M, Bandinelli, S, Barrett, A, Bellis, C, Bennett, A J, Berne, C, Blueher, M, Buhringer, S, Bonnet, F, Boettcher, Y, Bruinenberg, M, Carba, D B, Caspersen, I H, Clarke, R, Daw, E W, Deelen, J, Deelman, E, Delgado, G, Doney, A S F, Eklund, N, Erdos, M R, Estrada, K, Eury, E, Friedrichs, N, Garcia, M E, Giedraitis, V, Gigante, B, Go, A S, Golay, A, Grallert, H, Grammer, T B, Graessler, J, Grewal, J, Groves, C J, Haller, T, Hallmans, G, Hartman, C A, Hassinen, M, Hayward, C, Heikkila, K, Herzig, K, Helmer, Q, Hillege, H L, Holmen, O, Hunt, S C, Isaacs, A, Ittermann, T, James, A L, Johansson, I, Juliusdottir, T, Kalafati, I, Kinnunen, L, Koenig, W, Kooner, I K, Kratzer, W, Lamina, C, Leander, K, Lee, N R, Lichtner, P, Lind, L, Lindstrom, J, Lobbens, S, Lorentzon, M, Mach, F, Magnusson, P K E, Mahajan, A, McArdle, W L, Menni, C, Merger, S, Mihailov, E, Milani, L, Mills, R, Moayyeri, A, Monda, K L, Mooijaart, S P, Muehleisen, T W, Mulas, A, Mueller, G, Mueller-Nurasyid, M, Nagaraja, R, Nalls, M A, Narisu, N, Glorioso, N, Nolte, I M, Olden, M, Rayner, N W, Renstrom, F, Ried, J S, Robertson, N R, Rose, L M, Sanna, S, Scharnagl, H, Scholtens, S, Sennblad, B, Seufferlein, T, Sitlani, C M, Smith, A V, Stirrups, K, Stringham, H M, Sundstrom, J, Swertz, M A, Swift, A J, Syvanen, A, Tayo, B O, Thorand, B, Thorleifsson, G, Tomaschitz, A, Troffa, C, van Oort, F V A, Verweij, N, Vonk, J M, Waite, L L, Wennauer, R, Wilsgaard, T, Wojczynski, M K, Wong, A, Zhang, Q, Zhao, J H, Brennan, E P, Choi, M, Eriksson, P, Folkersen, L, Franco-Cereceda, A, Gharavi, A G, Hedman, A K, Hivert, M, Huang, J, Kanoni, S, Karpe, F, Keildson, S, Kiryluk, K, Liang, L, Lifton, R P, Ma, B, McKnight, A J, McPherson, R, Metspalu, A, Min, J L, Moffatt, M F, Montgomery, G W, Murabito, J M, Nicholson, G, Nyholt, DR, Olsson, C, Perry, J R B, Reinmaa, E, Salem, R M, Sandholm, N, Schadt, E E, Scott, R A, Stolk, L, Vallejo, E E, Westra, H, Zondervan, K T, Amouyel, P, Arveiler, D, Bakker, S J L, Beilby, J, Bergman, R N, Blangero, J, Brown, M J, Burnier, M, Campbell, H, Chakravarti, A, Chiness, P S, Claudi-Boehmi, S, Collins, F S, Crawford, D C, Danesh, J, de Faire, U, de Geus, E J C, Doerr, M, Erbel, R, Eriksson, J G, Farrall, M, Ferrannini, E, Ferrieres, J, Forouhi, N G, Forrester, T, Franco, O H, Gansevoort, R T, Gieger, C, Gudnason, V, Haiman, C A, Harris, T B, Hattersley, A T, Heliovaara, M, Hicks, A A, Hingorani, A D, Hoffmann, W, Hofman, A, Homuth, G, Humphries, S E, Hyppoenen, E, Illig, T, Jarvelin, M, Johansen, B, Jousilahti, P, Jula, A M, Kaprio, J, Kee, F, Keinanen-Kiukaanniemi, S M, Kooner, J S, Kooperberg, C, Kovacs, P, Kraja, A T, Kumari, M, Kuulasmaa, K, Kuusisto, J, Lakka, T A, Langenberg, C, Le Marchand, L, Lehtimaki, T, Lyssenko, V, Mannisto, S, Marette, A, Matise, T C, McKenzie, C A, McKnight, B, Musk, A W, Mohlenkamp, S, Morris, A D, Nelis, M, Ohlsson, C, Oldehinkel, A J, Ong, K K, Palmer, L J, Penninx, B W J H, Peters, A, Pramstaller, P P, Raitakari, O T, Rankinen, T, Rao, D C, Rice, T K, Ridker, P M, Ritchie, M D, Rudan, I, Salomaa, V, Samani, N J, Saramies, J, Sarzynski, M A, Schwarz, P E H, Shuldiner, A R, Staessen, J A, Steinthorsdottir, V, Stolk, R P, Strauch, K, Toenjes, A, Tremblay, A, Tremoli, E, Vohl, M, Voelker, U, Vollenweider, P, Wilson, J F, Witteman, J C, Adair, L S, Bochud, M, Boehm, B O, Bornstein, S R, Bouchard, C, Cauchi, S, Caulfield, M J, Chambers, J C, Chasman, D I, Cooper, R S, Dedoussis, G, Ferrucci, L, Froguel, P, Grabe, H, Hamsten, A, Hui, J, Hveem, K, Joeckel, K, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Maerz, W, Munroe, P B, Njolstad, I, Oostra, B A, Palmer, C N A, Pedersen, N L, Perola, M, Perusse, L, Peters, U, Power, C, Quertermous, T, Rauramaa, R, Rivadeneira, F, Saaristo, T E, Saleheen, D, Sinisalo, J, Slagboom, P E, Snieder, H, Spector, T D, Thorsteinsdottir, U R, Stumvoll, M, Tuomilehto, J, Uitterlinden, A G, Uusitupa, M, van der Harst, P, Veronesi, G, Walker, M, Wareham, N J, Watkins, H, Wichmann, H, Abecasis, G R, Assimes, T L, Berndt, S I, Boehnkes, M, Borecki, I B, Deloukas, P, Franke, L, Frayling, T M, Groop, L C, Hunter, D J, Kaplan, R C, O'Connell, J R, Qi, L, Schlessinger, D, Strachan, D P, Stefansson, K, van Dujin, C M, Willer, C J, Visscher, P M, Yang, J, Hirschhorn, J N, Zillikens, M C, McCarthy, M I, Speliotes, E K, North, K E, Fox, C S, Barroso, I, Franks, P W, Ingelsson, E, Heid, I M, Loos, R J F, Cupples, L A, Morris, A P, Lindgren, C M & Mohlke, K L 2015, ' New genetic loci link adipose and insulin biology to body fat distribution ', Nature, vol. 518, no. 7538, pp. 187-196 . https://doi.org/10.1038/nature14132
Nature, Nature Publishing Group, 2015, 518 (7538), pp.187-96. 〈10.1038/nature14132〉
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardio
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https://serval.unil.ch/notice/serval:BIB_10C25BFE14DB
https://serval.unil.ch/notice/serval:BIB_10C25BFE14DB