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2. The ELECTRA Trial: Approach to Contemporary Challenges in the Development and Implementation of Double-Blinded, Randomised, Controlled Clinical Trials in Low-Volume High-Complexity Surgical Oncology.

Author

Ewings, Sean, Peppa, Nadia, Griffiths, Daniel, Hawkins, Maria, Birch, Claire, Naga, Adly, Parsons, Georgina, Al-Shamkhani, Aymen, Lord, Joanne, Bateman, Adrian C., Bateman, Andrew, Lane, Charlotte, Cozens, Kelly, Griffiths, Gareth, Crabb, Simon J., West, Charles, Yano, Hideaki, West, Malcolm A., and Mirnezami, Alexander H.

Subjects
PATIENT selection, PELVIC exenteration, RADIOTHERAPY, CANCER relapse, BLIND experiment, PILOT projects, HUMAN research subjects, STATISTICAL sampling, RANDOMIZED controlled trials, CANCER patients, INTRAOPERATIVE care, RECTUM tumors, EVIDENCE-based medicine, PATIENT participation
Abstract

Simple Summary: Designing and planning trials in surgical disciplines presents significant challenges, and many surgical treatments have not yet been evaluated with the highest standards of evidence. Nevertheless, achieving the high standards of randomised trials is a crucial goal, especially for financially constrained national healthcare systems, to ensure that funding decisions are backed by robust evidence. This challenge is further compounded in the context of low-volume, high-complexity, multi-specialty, and multi-modality interventions, which are increasingly employed in the management of some of the most difficult cancers. Here, we highlight some of the legitimate difficulties in designing such complex trials. Using the ELECTRA trial as an example, we suggest recommendations that may facilitate future surgical studies. ELECTRA is a randomised controlled, three-arm, double-blinded feasibility trial, testing the benefit of the addition of intraoperative electron beam radiotherapy at the time of surgery in the management of advanced and recurrent rectal cancers. Background: Achieving evidence-based practice change in surgery has always been challenging, with many aspects of common clinical practice evolving through lower-level studies that are susceptible to bias and confounding rather than high-quality evidence. This challenge is even more pronounced in the setting of low-volume, high-complexity surgical oncology. Additionally, when the costs of interventions or technologies are high, designing and developing such studies within financially constrained national healthcare systems becomes even more complicated, potentially widening perceived healthcare inequalities between private and publicly funded systems. However, this is precisely the area where a lack of evidence can either hinder the development of significant new clinical advances or lead to the adoption of expensive and ineffective treatments. Here, we describe the novel approaches adopted in the design, development, and implementation of the ELECTRA trial, a randomised, controlled, double-blinded feasibility study with a planned extension to a late-phase trial. Methods: The Cancer Research UK ELECTRA (NCT05877352) trial is a three-armed randomised, controlled clinical trial designed to evaluate the incremental benefit of adding intraoperative electron beam radiotherapy (IOERT) to pelvic exenteration surgery for locally advanced and locally recurrent rectal cancer. ELECTRA is double-blinded, with patients, surgeons, and oncologists unaware of whether IOERT is administered or not. The primary feasibility outcome focuses on the ability to successfully recruit and randomise participants, while the subsequent primary outcome assesses IOERT field local control. Results: We describe the collaborative process involved in developing the trial, including national and international consultations to determine the best study design and the most optimal outcome measures to evaluate. We outline the extensive patient participation and input into the study design. Given the complexity and evolving nature of the field, with no clear international standardisations, we outline the processes used to address internationally agreed definitions, radiological standardisation, surgical learning curves, quality assurance, and pathological standardisation, as well as the broader impact and benefits of these activities. Finally, we describe the novel design utilised to facilitate the involvement of national and international units with varying levels of equipoise regarding IOERT. Conclusions: Historically, randomised clinical trials have not been the standard approach for evaluating surgical interventions due to their practical and methodological challenges, particularly in high-complexity, low-volume settings. Despite these difficulties, they remain the gold standard for evidence-based practice. The ELECTRA trial exemplifies a complex, innovative trial design that addresses an unmet need in a specialised area of high-complexity surgery. Using ELECTRA as an example, we highlight the genuine challenges in designing such complex trials and provide recommendations to facilitate the conduct of future well-designed surgical studies. [ABSTRACT FROM AUTHOR]

Published
2025
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3. Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI): a single-blind randomised controlled trial

Author

Junker, Anders, Kaltoft, Anne, Madsen, Morten, Christiansen, Evald Høj, Jakobsen, Lars, Carstensen, Steen, Kristensen, Steen Dalby, Thim, Troels, Pedersen, Karin Møller, Korsgaard, Mette Tidemand, Iversen, Allan, Jørgensen, Erik, Joshi, Francis, Pedersen, Frants, Tilsted, Hans Henrik, Alzuhairi, Karam, Saunamäki, Kari, Holmvang, Lene, Ahlehof, Ole, Sørensen, Rikke, Helqvist, Steffen, Mark, Bettina Løjmand, Villadsen, Anton Boel, Raungaard, Bent, Thuesen, Leif, Christiansen, Martin Kirk, Freeman, Philip, Jensen, Svend Eggert, Skov, Charlotte Schmidt, Aziz, Ahmed, Hansen, Henrik Steen, Ellert, Julia, Veien, Karsten, Pedersen, Knud Erik, Hansen, Knud Nørregård, Ahlehoff, Ole, Cappelen, Helle, Wittrock, Daniel, Hansen, Poul Anders, Ankersen, Jens Peter, Hedegaard, Kim Witting, Kempel, John, Kaus, Henning, Erntgaard, Dennis, Pedersen, Danny Mejsner, Giebner, Matthias, Hansen, Troels Martin Hansen, Radosavljevic-Radovanovic, Mina, Prodanovic, Maja, Savic, Lidija, Pejic, Marijana, Matic, Dragan, Uscumlic, Ana, Subotic, Ida, Lasica, Ratko, Vukcevic, Vladan, Suárez, Alfonso, Samaniego, Beatriz, Morís, César, Segovia, Eduardo, Hernández, Ernesto, Lozano, Iñigo, Pascual, Isaac, Vegas-Valle, Jose M., Rozado, José, Rondán, Juan, Avanzas, Pablo, del Valle, Raquel, Padrón, Remigio, García-Castro, Alfonso, Arango, Amalia, Medina-Cameán, Ana B., Fente, Ana I., Muriel-Velasco, Ana, Pomar-Amillo, Ángeles, Roza, César L., Martínez-Fernández, César M., Buelga-Díaz, Covadonga, Fernández-Gonzalo, David, Fernández, Elena, Díaz-González, Eloy, Martinez-González, Eugenio, Iglesias-Llaca, Fernando, Viribay, Fernando M., Fernández-Mallo, Francisco J., Hermosa, Francisco J., Martínez-Bastida, Ginés, Goitia-Martín, Javier, Vega-Fernández, José L., Tresguerres, Jose M., Rodil-Díaz, Juan A., Villar-Fernández, Lara, Alberdi, Lucía, Abella-Ovalle, Luis, de la Roz, Manuel, Fernández-Carral, Marcos Fernández-Carral, Naves, María C., Peláez, María C., Fuentes, María D., García-Alonso, María, Villanueva, María J., Vinagrero, María S., Vázquez-Suárez, María, Martínez-Valle, Marta, Nonide, Marta, Pozo-López, Mónica, Bernardo-Alba, Pablo, Galván-Núñez, Pablo, Martínez-Pérez, Polácido J., Castro, Rafael, Suárez-Coto, Raquel, Suárez-Noriega, Raquel, Guinea, Rocío, Quintana, Rosa B., de Cima, Sara, Hedrera, Segundo A., Laca, Sonia I., Llorente-Álvarez, Susana, Pascual, Susana, Cimas, Teodorna, Mathur, Anthony, McFarlane-Henry, Eleanor, Leonard, Gerry, Veerapen, Jessry, Westwood, Mark, Colicchia, Martina, Prossora, Mary, Andiapen, Mervyn, Mohiddin, Saidi, Lenzi, Valentina, Chong, Jun, Francis, Rohin, Pine, Amy, Jamieson-Leadbitter, Caroline, Neal, Debbie, Din, J., McLeod, Jane, Roberts, Josh, Polokova, Karin, Longman, Kristel, Penney, Lucy, Lakeman, Nicki, Wells, Nicki, Hopper, Oliver, Coward, Paul, O'Kane, Peter, Harkins, Ruth, Guyatt, Samantha, Kennard, Sarah, Orr, Sarah, Horler, Stephanie, Morris, Steve, Walvin, Tom, Snow, Tom, Cunnington, Michael, Burd, Amanda, Gowing, Anne, Krishnamurthy, Arvindra, Harland, Charlotte, Norfolk, Derek, Johnstone, Donna, Newman, Hannah, Reed, Helen, O'Neill, James, Greenwood, John, Cuxton, Josephine, Corrigan, Julie, Somers, Kathryn, Anderson, Michelle, Burtonwood, Natalie, Bijsterveld, Petra, Brogan, Richard, Ryan, Tony, Kodoth, Vivek, Khan, Arif, Sebastian, Deepti, Gorog, Diana, Boyle, Georgina, Shepherd, Lucy, Hamid, Mahmood, Farag, Mohamed, Spinthakis, Nicholas, Waitrak, Paulina, De Sousa, Phillipa, Bhatti, Rishma, Oliver, Victoria, Walshe, Siobhan, Odedra, Toral, Gue, Ying, Kanji, Rahim, Ryding, Alisdair, Ratcliffe, Amanda, Merrick, Angela, Horwood, Carol, Sarti, Charlotte, Maart, Clint, Moore, Donna, Dockerty, Francesca, Baucutt, Karen, Pitcher, Louise, Ilsley, Mary, Clarke, Millie, Germon, Rachel, Gomes, Sara, Clare, Thomas, Nair, Sunil, Staines, Jocasta, Nicholson, Susan, Watkinson, Oliver, Gallagher, Ian, Nelthorpe, Faye, Musselwhite, Janine, Grosser, Konrad, Stimson, Leah, Eaton, Michelle, Heppell, Richard, Turney, Sharon, Horner, Victoria, Schumacher, Natasha, Moon, Angela, Mota, Paula, O'Donnell, Joshua, Panicker, Abeesh Sadasiva, Musa, Anntoniette, Tapp, Luke, Krishnamoorthy, Suresh, Ansell, Valerie, Ali, Danish, Hyndman, Samantha, Banerjee, Prithwish, Been, Martin, Mackenzie, Ailie, McGregor, Andrew, Hildick-Smith, David, Champney, Felicity, Ingoldby, Fiona, Keate, Kirstie, Bennett, Lorraine, Skipper, Nicola, Gregory, Sally, Harfield, Scott, Mudd, Alexandra, Wragg, Christopher, Barmby, David, Grech, Ever, Hall, Ian, Middle, Janet, Barker, Joann, Fofie, Joyce, Gunn, Julian, Housley, Kay, Cockayne, Laura, Weatherlley, Louise, Theodorou, Nana, Wheeldon, Nigel, Fati, Pene, Storey, Robert F., Richardson, James, Iqbal, Javid, Adam, Zul, Brett, Sarah, Agyemang, Michael, Tawiah, Cecilia, Hogrefe, Kai, Raju, Prashanth, Braybrook, Christine, Gracey, Jay, Waldron, Molly, Holloway, Rachael, Burunsuzoglu, Senem, Sidgwick, Sian, Hetherington, Simon, Beirnes, Charmaine, Fernandez, Olga, Lazar, Nicoleta, Knighton, Abigail, Rai, Amrit, Hoare, Amy, Webb, Ian, Breeze, Jonathan, Martin, Katherine, Andrews, Michelle, Patale, Sheetal, Bennett, Amy, Smallwood, Andrew, Radford, Elizabeth, Cotton, James, Martins, Joe, Wallace, Lauren, Milgate, Sarah, Munir, Shahzad, Metherell, Stella, Cottam, Victoria, Massey, Ian, Copestick, Jane, Delaney, Jane, Wain, Jill, Sandhu, Kully, Emery, Lisa, Butler, Robert, Hall, Charlotte, Bucciarelli-Ducci, Chiara, Besana, Rissa, Hussein, Jodie, Bell, Sheila, Gill, Abby, Bales, Emily, Polwarth, Gary, East, Clare, Smith, Ian, Oliveira, Joana, Victor, Saji, Woods, Sarah, Hoole, Stephen, Ramos, Angelo, Sevillano, Annaliza, Nicholson, Anne, Solieri, Ashley, Redman, Emily, Byrne, Jean, Joyce, Joan, Riches, Joanne, Davies, John, Allen, Kezia, Saclot, Louie, Ocampo, Madelaine, Vertue, Mark, Christmas, Natasha, Koothoor, Raiji, Gamma, Reto, Alvares, Wilson, Pepper, Stacey, Kobson, Barbara, Reeve, Christy, Malik, Iqbal, Chester, Emma, Saunders, Heidi, Mojela, Idah, Smee, Joanna, Davies, Justin, Davies, Nina, Clifford, Piers, Dias, Priyanthi, Kaur, Ramandeep, Moreira, Silvia, Ahmad, Yousif, Tomlinson, Lucy, Pengelley, Clare, Bidle, Amanda, Spence, Sharon, Al-Lamee, Rasha, Phuyal, Urmila, Abbass, Hakam, Bose, Tuhina, Elliott, Rebecca, Foundun, Aboo, Chung, Alan, Freestone, Beth, Lee, Dr Kaeng, Elshiekh, Dr Mohamed, Pulikal, George, Bhatre, Gurbir, Douglas, James, Kaeng, Lee, Pitt, Mike, Watkins, Richard, Gill, Simrat, Hartley, Amy, Lucking, Andrew, Moreby, Berni, Darby, Damaris, Corps, Ellie, Parsons, Georgina, De Mance, Gianluigi, Fahrai, Gregor, Turner, Jenny, Langrish, Jeremy, Gaughran, Lisa, Wolyrum, Mathias, Azkhalil, Mohammed, Bates, Rachel, Given, Rachel, Kharbanda, Rajesh, Douthwaite, Rebecca, Lloyd, Steph, Neubauer, Stephen, Barker, Deborah, Dana, Ali, Suttling, Anne, Turner, Charlotte, Smith, Clare, Longbottom, Colin, Ross, David, Cunliffe, Denise, Cox, Emily, Whitehead, Helena, Hudson, Karen, Jones, Leslie, Drew, Martin, Chant, Nicholas, Haworth, Peter, Capel, Robert, Austin, Rosalynn, Howe, Serena, Smith, Trevor, Hobson, Alex, Strike, Philip, Griffiths, Huw, Anantharam, Brijesh, Jack, Pearse, Thornton, Emma, Hodgson, Adrian, Jennison, Alan, McSkeane, Anna, Smith, Bethany, Shaw, Caroline, Leathers, Chris, Armstrong, Elissa, Carruthers, Gayle, Simpson, Holly, Smith, Jan, Hodierne, Jeremy, Kelly, Julie, Barclay, Justin, Scott, Kerry, Gregson, Lisa, Buchanan, Louise, McCormick, Louise, Varma, Madhusudhan, Kelsall, Nicci, Mcarthy, Rachel, Taylor, Rebecca, Thompson, Rebecca, Shelton, Rhidian, Moore, Roger, Tomlinson, Sharon, Thambi, Sunil, Cooper, Theresa, Oakes, Trevor, Deen, Zakhira, Relph, Chris, prentice, Scott, Hall, Lorna, Dillon, Angela, Meadows, Deborah, Frank, Emma, Markham-Jones, Helene, Thomas, Isobel, Gale, Joanne, Denman, Joanne, O'Connor, John, Hindle, Julia, Jackson-Lawrence, Karen, Warner, Karen, Lee, Kelvin, Upton, Robert, Elston, Ruth, Lee, Sandra, Venugopal, Vinod, Finch, Amanda, Fleming, Catherine, Whiteside, Charlene, Pemberton, Chris, Wilkinson, Conor, Sebastian, Deepa, Riedel, Ella, Giuffrida, Gaia, Burnett, Gillian, Spickett, Helen, Glen, James, Brown, Janette, Thornborough, Lauren, Pedley, Lauren, Morgan, Maureen, Waddington, Natalia, Brennan, Oliver, More, Ranjit, Brady, Rebecca, Preston, Stephen, Loder, Chris, Vlad, Ionela, Laurence, Julia, Smit, Angelique, Dimond, Kirsty, Hayes, Michelle, Paddy, Loveth, Crause, Jacolene, Amed, Nadifa, Kaur-Babooa, Priya, Rakhit, Roby, Kotecha, Tushar, Fayed, Hossam, Pavlidis, Antonis, Prendergast, Bernard, Clapp, Brian, Perara, Divaka, Atkinson, Emma, Ellis, Howard, Wilson, Karen, Gibson, Kirsty, Smith, Megan, Khawaja, Muhammed Zeeshan, Sanchez-Vidal, Ruth, Redwood, Simon, Jones, Sophie, Tipping, Aoife, Oommen, Anu, Hendry, Cara, Fath-Orboubadi, DR Fazin, Phillips, Hannah, Kolakaluri, Laurel, Sherwood, Martin, Mackie, Sarah, Aleti, Shilpa, Charles, Thabitha, Roy, Liby, Henderson, Rob, Stables, Rod, Marber, Michael, Berry, Alan, Redington, Andrew, Thygesen, Kristian, Andersen, Henning Rud, Berry, Colin, Copas, Andrew, Meade, Tom, Kelbæk, Henning, Bueno, Hector, von Weitzel-Mudersbach, Paul, Andersen, Grethe, Ludman, Andrew, Cruden, Nick, Topic, Dragan, Mehmedbegovic, Zlatko, de la Hera Galarza, Jesus Maria, Robertson, Steven, Van Dyck, Laura, Chu, Rebecca, Astarci, Josenir, Jamal, Zahra, Hetherington, Daniel, Collier, Lucy, Hausenloy, Derek J, Kharbanda, Rajesh K, Møller, Ulla Kristine, Ramlall, Manish, Aarøe, Jens, Bulluck, Heerajnarain, Clayton, Tim, Dodd, Matthew, Engstrom, Thomas, Evans, Richard, Lassen, Jens Flensted, Christensen, Erika Frischknecht, Garcia-Ruiz, José Manuel, Gorog, Diana A, Hjort, Jakob, Houghton, Richard F, Ibanez, Borja, Knight, Rosemary, Lippert, Freddy K, Lønborg, Jacob T, Maeng, Michael, Milasinovic, Dejan, Nicholas, Jennifer M, Jensen, Lisette Okkels, Perkins, Alexander, Radovanovic, Nebojsa, Rakhit, Roby D, Ravkilde, Jan, Ryding, Alisdair D, Schmidt, Michael R, Riddervold, Ingunn Skogstad, Sørensen, Henrik Toft, Stankovic, Goran, Terkelsen, Christian Juhl, Greenwood, John P, Yellon, Derek M, and Bøtker, Hans Erik

Published
2019
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4. Acute respiratory distress syndrome subphenotypes and differential response to simvastatin: secondary analysis of a randomised controlled trial

Author

Johnston, Andrew J, Paikray, Archana, Yates, Cat, Polgarova, Petra, Price, Esther, McInerney, Amy, Zamoscik, Katarzyna, Dempsey, Ged, Seasman, Colette, Gilfeather, Lynn, Hemmings, Noel, O'Kane, Sinead, Johnston, Paul, Pokorny, Lukas, Nutt, Chris, O'Neill, Orla, Prashast, Prashast, Smalley, Chris, Jacob, Reni, O'Rourke, James, Sultan, Syed Farjad, Schilling, Carole, Perkins, Gavin D, Melody, Teresa, Couper, Keith, Daniels, Ron, Gao, Fang, Hull, Julian, Gould, Timothy, Thomas, Matthew, Sweet, Katie, Breen, Dorothy, Neau, Emer, Peel, Willis J, Jardine, Catherine, Jefferson, Paul, Wright, Stephen E, Harris, Kayla, Hierons, Sarah, Laffey, John, McInerney, Veronica, Camporota, Luigi, Lei, Katie, Kaul, Sundeep, Chibvuri, Molly, Gratrix, Andrew, Bennett, Rachael, Martinson, Victoria, Sleight, Lisa, Smith, Neil, Hopkins, Philip A, Hadfield, Daniel, Casboult, Sarah, Wade-Smith, Fiona, Dawson, Julie, Mellis, Clare, Harris, Clair, Parsons, Georgina, Helyar, Sinead, Bodenham, Andrew R, Elliot, Stuart, Beardow, Zoe, Birch, Sian, Marsh, Brian, Martin, Teresa, Dhrampal, Akesh, Rosbergen, Melissa, Webb, Stephen, Bottrill, Fiona, Reschreiter, Henrik, Barcraft-Barnes, Helena, Camsooksai, Julie, Johnston, Andrew, Clarkson, Aisling, Bentley, Conor, Cooper, Lauren, Qui, Yongyan, Mitchell, Natalie, Carrera, Ronald, Whitehouse, Arlo, Danbury, Christopher M, Jacques, Nicola, Brown, Abby, Rogerson, David, Morris, Craig, Walsh, Timothy, Gillies, Mike, Price, Grant, Kefala, Kallirroi, Young, Neil, Hope, David, McCulloch, Corrienne, Antonelli, Jean, Ramsay, Pam, Everingham, Kirsty, Boardman, Louise, Dawson, Heidi, Pollock, Fiona, Thompson, Joanne, Welters, Ingeborg D, Poole, Lee, Hampshire, Peter, Hall, Alison, Williams, Karen, Walker, Anna, Youds, Laura, Hendry, Samantha, Waugh, Victoria, Patrick-Heselton, Julie, Shaw, David, Chaudry, Irfan, Baldwin, Jacqueline, Drage, Stephen, Ortiz-Ruiz de Gordoa, Laura, McAuley, Daniel, Bannon, Leona, Quinn, Vanessa, McNamee, Lia, White, Griania, Cecconi, Maurizio, Mellinghoff, Johannes, Ryan, Donal, Nichol, Alistair, Agarwal, Banwari, Meale, Paula, James, Sarah, Dhadwal, Kulwant, Martin, Daniel, Walecka, Agnieszka, Ward, Stephen, Trinder, John, Hagan, Samantha, Montgomery, Janice, Leonard, Catherine, Lemon, Elizabeth, Trinick, Tom, Buddhavarapu, Murthy, Ward, Geraldine, Bassford, Christopher, Davidson, Alan, McGuigan, Kate, Benchiheub, Anissa, Hickey, Naomi, Binning, Alexander, Henderson, Steven, Wood, J A, Burtenshaw, Andrew J, Kelly, Dawn, Martin, Terry, Thrush, Jessica, Wollaston, Julie, Graystone, Stephen, Nicol, Gavin, Sellors, Gareth, Calfee, Carolyn S, Delucchi, Kevin L, Sinha, Pratik, Matthay, Michael A, Hackett, Jonathan, Shankar-Hari, Manu, McDowell, Cliona, Laffey, John G, O'Kane, Cecilia M, and McAuley, Daniel F

Published
2018
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6. Information for HE distance learners using mobile devices

Author

Parsons, Georgina

Subjects
University and college libraries -- Access control, Distance education -- Technology application, Education, Higher -- Technology application, Mobile communication systems -- Usage, Wireless communication systems -- Usage, Wireless technology, Technology application, Business, Library and information science
Published
2010

7. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

Author

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, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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8. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author

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, Wellcome Trust, Thaventhiran, James [0000-0001-8616-074X], Lango Allen, Hana [0000-0002-7803-8688], Burren, Oliver [0000-0002-3388-5760], Rae, William [0000-0003-0095-2514], Zhang, Zinan [0000-0003-3831-2272], Megy, Karyn [0000-0002-2826-3879], Johnson, Kathleen [0000-0002-6823-3252], Smith, Kenneth [0000-0003-3829-4326], Apollo - University of Cambridge Repository, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, Ege Üniversitesi, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Infectious diseases, APH - Aging & Later Life, APH - Global Health, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Biochemie, RS: Carim - B03 Cell biochemistry of thrombosis and haemostasis, Faculteit FHML Centraal, MUMC+: DA CDL Algemeen (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, and Promovendi CD

Subjects
0301 basic medicine, Male, Protein Tyrosine Phosphatase, Non-Receptor Type 2/genetics, Genome-wide association study, VARIANTS, Regulatory Sequences, Nucleic Acid, medicine.disease_cause, Genome, Cohort Studies, 0302 clinical medicine, RARE, QR180 Immunology, Primary Immunodeficiency Consortium for the NIHR Bioresource, Genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Multidisciplinary, Suppressor of Cytokine Signaling 1 Protein/genetics, GENETIC-VARIATION, RNA-Binding Proteins, Primary Immunodeficiency Diseases/diagnosis, ASSOCIATION, Penetrance, Multidisciplinary Sciences, DEFICIENCY, QR180, Science & Technology - Other Topics, Female, General Science & Technology, Primary Immunodeficiency Diseases, Transcription Factors/genetics, Genomics, COMMON VARIABLE IMMUNODEFICIENCY, QH426 Genetics, Biology, Article, Actin-Related Protein 2-3 Complex, 03 medical and health sciences, Suppressor of Cytokine Signaling 1 Protein, SDG 3 - Good Health and Well-being, SUPPRESSOR, Actin-Related Protein 2-3 Complex/genetics, medicine, Humans, QH426, Whole genome sequencing, Science & Technology, Whole Genome Sequencing, Common variable immunodeficiency, DAS, Bayes Theorem, Immune dysregulation, Regulatory Sequences, Nucleic Acid/genetics, medicine.disease, RNA-Binding Proteins/genetics, STAT1 MUTATIONS, 030104 developmental biology, Primary immunodeficiency, IUIS PHENOTYPIC CLASSIFICATION, GAIN, 030215 immunology, Genome-Wide Association Study, Transcription Factors
Abstract

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 childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1–3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans. © 2020, The Author(s), under exclusive licence to Springer Nature Limited., Wellcome Trust, WT: 104807/Z/14/Z University College London, UCL: 100140/Z/12/Z, 107212/Z/15/Z, MR/L019027, 203141/Z/16/Z, 091157/Z/10/Z Bundesministerium für Bildung und Forschung, BMBF: 01ZX1306A University of Cambridge 201250/Z/16/Z 01ZX1709 Seventh Framework Programme, FP7 NIHR Bristol Biomedical Research Centre Deutsche Forschungsgemeinschaft, DFG Deutsche Forschungsgemeinschaft, DFG: EXC 2167-390884018 Juvenile Diabetes Research Foundation United Kingdom, JDRF: 9-2011-253, 5-SRA-2015-130-A-N National Institute for Health Research, NIHR: RG65966 Medical Research Council, MRC: RG95376, MR/L006197/1 Great Ormond Street Hospital for Children, GOSH, Acknowledgements The NBR-RD PID Consortium is part of the NIHR BioResource, for which funding was provided by the NIHR (NIHR, grant number RG65966). We acknowledge the participation of all NIHR BioResource volunteers, and thank the NIHR BioResource centre and staff for their contribution. J.E.D.T. is supported by the Medical Research Council (MRC) (RG95376 and MR/L006197/1); A.J.T. is supported by the Wellcome Trust (104807/Z/14/Z) and the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; K.G.C.S. is supported by the MRC (programme grant MR/L019027) and is a Wellcome Investigator; A.J.C. was supported by the Wellcome Trust (091157/Z/10/Z, 107212/Z/15/Z, 100140/Z/12/Z, 203141/Z/16/Z), JDRF (9-2011-253, 5-SRA-2015-130-A-N), NIHR Oxford Biomedical Research Centre and NIHR Cambridge Biomedical Research Centre; E.E. has received funding from the European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) under grant agreement number 609020-Scientia Fellows; E.R. is supported by the Wellcome Trust (201250/Z/16/Z); D.E. is supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (SysInflame grant 01ZX1306A; GB-XMAP grant 01ZX1709) and funded by the Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany’s Excellence Strategy (EXC 2167-390884018). The NIHR Cambridge Biomedical Research Centre (BRC) is a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by the NIHR. This research was co-funded by the support listed above and the NIHR Cambridge BRC.

Published
2020
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9. Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI): a single-blind randomised controlled trial

Author

Hausenloy, Derek J, primary, Kharbanda, Rajesh K, additional, Møller, Ulla Kristine, additional, Ramlall, Manish, additional, Aarøe, Jens, additional, Butler, Robert, additional, Bulluck, Heerajnarain, additional, Clayton, Tim, additional, Dana, Ali, additional, Dodd, Matthew, additional, Engstrom, Thomas, additional, Evans, Richard, additional, Lassen, Jens Flensted, additional, Christensen, Erika Frischknecht, additional, Garcia-Ruiz, José Manuel, additional, Gorog, Diana A, additional, Hjort, Jakob, additional, Houghton, Richard F, additional, Ibanez, Borja, additional, Knight, Rosemary, additional, Lippert, Freddy K, additional, Lønborg, Jacob T, additional, Maeng, Michael, additional, Milasinovic, Dejan, additional, More, Ranjit, additional, Nicholas, Jennifer M, additional, Jensen, Lisette Okkels, additional, Perkins, Alexander, additional, Radovanovic, Nebojsa, additional, Rakhit, Roby D, additional, Ravkilde, Jan, additional, Ryding, Alisdair D, additional, Schmidt, Michael R, additional, Riddervold, Ingunn Skogstad, additional, Sørensen, Henrik Toft, additional, Stankovic, Goran, additional, Varma, Madhusudhan, additional, Webb, Ian, additional, Terkelsen, Christian Juhl, additional, Greenwood, John P, additional, Yellon, Derek M, additional, Bøtker, Hans Erik, additional, Junker, Anders, additional, Kaltoft, Anne, additional, Madsen, Morten, additional, Christiansen, Evald Høj, additional, Jakobsen, Lars, additional, Carstensen, Steen, additional, Kristensen, Steen Dalby, additional, Thim, Troels, additional, Pedersen, Karin Møller, additional, Korsgaard, Mette Tidemand, additional, Iversen, Allan, additional, Jørgensen, Erik, additional, Joshi, Francis, additional, Pedersen, Frants, additional, Tilsted, Hans Henrik, additional, Alzuhairi, Karam, additional, Saunamäki, Kari, additional, Holmvang, Lene, additional, Ahlehof, Ole, additional, Sørensen, Rikke, additional, Helqvist, Steffen, additional, Mark, Bettina Løjmand, additional, Villadsen, Anton Boel, additional, Raungaard, Bent, additional, Thuesen, Leif, additional, Christiansen, Martin Kirk, additional, Freeman, Philip, additional, Jensen, Svend Eggert, additional, Skov, Charlotte Schmidt, additional, Aziz, Ahmed, additional, Hansen, Henrik Steen, additional, Ellert, Julia, additional, Veien, Karsten, additional, Pedersen, Knud Erik, additional, Hansen, Knud Nørregård, additional, Ahlehoff, Ole, additional, Cappelen, Helle, additional, Wittrock, Daniel, additional, Hansen, Poul Anders, additional, Ankersen, Jens Peter, additional, Hedegaard, Kim Witting, additional, Kempel, John, additional, Kaus, Henning, additional, Erntgaard, Dennis, additional, Pedersen, Danny Mejsner, additional, Giebner, Matthias, additional, Hansen, Troels Martin Hansen, additional, Radosavljevic-Radovanovic, Mina, additional, Prodanovic, Maja, additional, Savic, Lidija, additional, Pejic, Marijana, additional, Matic, Dragan, additional, Uscumlic, Ana, additional, Subotic, Ida, additional, Lasica, Ratko, additional, Vukcevic, Vladan, additional, Suárez, Alfonso, additional, Samaniego, Beatriz, additional, Morís, César, additional, Segovia, Eduardo, additional, Hernández, Ernesto, additional, Lozano, Iñigo, additional, Pascual, Isaac, additional, Vegas-Valle, Jose M., additional, Rozado, José, additional, Rondán, Juan, additional, Avanzas, Pablo, additional, del Valle, Raquel, additional, Padrón, Remigio, additional, García-Castro, Alfonso, additional, Arango, Amalia, additional, Medina-Cameán, Ana B., additional, Fente, Ana I., additional, Muriel-Velasco, Ana, additional, Pomar-Amillo, Ángeles, additional, Roza, César L., additional, Martínez-Fernández, César M., additional, Buelga-Díaz, Covadonga, additional, Fernández-Gonzalo, David, additional, Fernández, Elena, additional, Díaz-González, Eloy, additional, Martinez-González, Eugenio, additional, Iglesias-Llaca, Fernando, additional, Viribay, Fernando M., additional, Fernández-Mallo, Francisco J., additional, Hermosa, Francisco J., additional, Martínez-Bastida, Ginés, additional, Goitia-Martín, Javier, additional, Vega-Fernández, José L., additional, Tresguerres, Jose M., additional, Rodil-Díaz, Juan A., additional, Villar-Fernández, Lara, additional, Alberdi, Lucía, additional, Abella-Ovalle, Luis, additional, de la Roz, Manuel, additional, Fernández-Carral, Marcos Fernández-Carral, additional, Naves, María C., additional, Peláez, María C., additional, Fuentes, María D., additional, García-Alonso, María, additional, Villanueva, María J., additional, Vinagrero, María S., additional, Vázquez-Suárez, María, additional, Martínez-Valle, Marta, additional, Nonide, Marta, additional, Pozo-López, Mónica, additional, Bernardo-Alba, Pablo, additional, Galván-Núñez, Pablo, additional, Martínez-Pérez, Polácido J., additional, Castro, Rafael, additional, Suárez-Coto, Raquel, additional, Suárez-Noriega, Raquel, additional, Guinea, Rocío, additional, Quintana, Rosa B., additional, de Cima, Sara, additional, Hedrera, Segundo A., additional, Laca, Sonia I., additional, Llorente-Álvarez, Susana, additional, Pascual, Susana, additional, Cimas, Teodorna, additional, Mathur, Anthony, additional, McFarlane-Henry, Eleanor, additional, Leonard, Gerry, additional, Veerapen, Jessry, additional, Westwood, Mark, additional, Colicchia, Martina, additional, Prossora, Mary, additional, Andiapen, Mervyn, additional, Mohiddin, Saidi, additional, Lenzi, Valentina, additional, Chong, Jun, additional, Francis, Rohin, additional, Pine, Amy, additional, Jamieson-Leadbitter, Caroline, additional, Neal, Debbie, additional, Din, J., additional, McLeod, Jane, additional, Roberts, Josh, additional, Polokova, Karin, additional, Longman, Kristel, additional, Penney, Lucy, additional, Lakeman, Nicki, additional, Wells, Nicki, additional, Hopper, Oliver, additional, Coward, Paul, additional, O'Kane, Peter, additional, Harkins, Ruth, additional, Guyatt, Samantha, additional, Kennard, Sarah, additional, Orr, Sarah, additional, Horler, Stephanie, additional, Morris, Steve, additional, Walvin, Tom, additional, Snow, Tom, additional, Cunnington, Michael, additional, Burd, Amanda, additional, Gowing, Anne, additional, Krishnamurthy, Arvindra, additional, Harland, Charlotte, additional, Norfolk, Derek, additional, Johnstone, Donna, additional, Newman, Hannah, additional, Reed, Helen, additional, O'Neill, James, additional, Greenwood, John, additional, Cuxton, Josephine, additional, Corrigan, Julie, additional, Somers, Kathryn, additional, Anderson, Michelle, additional, Burtonwood, Natalie, additional, Bijsterveld, Petra, additional, Brogan, Richard, additional, Ryan, Tony, additional, Kodoth, Vivek, additional, Khan, Arif, additional, Sebastian, Deepti, additional, Gorog, Diana, additional, Boyle, Georgina, additional, Shepherd, Lucy, additional, Hamid, Mahmood, additional, Farag, Mohamed, additional, Spinthakis, Nicholas, additional, Waitrak, Paulina, additional, De Sousa, Phillipa, additional, Bhatti, Rishma, additional, Oliver, Victoria, additional, Walshe, Siobhan, additional, Odedra, Toral, additional, Gue, Ying, additional, Kanji, Rahim, additional, Ryding, Alisdair, additional, Ratcliffe, Amanda, additional, Merrick, Angela, additional, Horwood, Carol, additional, Sarti, Charlotte, additional, Maart, Clint, additional, Moore, Donna, additional, Dockerty, Francesca, additional, Baucutt, Karen, additional, Pitcher, Louise, additional, Ilsley, Mary, additional, Clarke, Millie, additional, Germon, Rachel, additional, Gomes, Sara, additional, Clare, Thomas, additional, Nair, Sunil, additional, Staines, Jocasta, additional, Nicholson, Susan, additional, Watkinson, Oliver, additional, Gallagher, Ian, additional, Nelthorpe, Faye, additional, Musselwhite, Janine, additional, Grosser, Konrad, additional, Stimson, Leah, additional, Eaton, Michelle, additional, Heppell, Richard, additional, Turney, Sharon, additional, Horner, Victoria, additional, Schumacher, Natasha, additional, Moon, Angela, additional, Mota, Paula, additional, O'Donnell, Joshua, additional, Panicker, Abeesh Sadasiva, additional, Musa, Anntoniette, additional, Tapp, Luke, additional, Krishnamoorthy, Suresh, additional, Ansell, Valerie, additional, Ali, Danish, additional, Hyndman, Samantha, additional, Banerjee, Prithwish, additional, Been, Martin, additional, Mackenzie, Ailie, additional, McGregor, Andrew, additional, Hildick-Smith, David, additional, Champney, Felicity, additional, Ingoldby, Fiona, additional, Keate, Kirstie, additional, Bennett, Lorraine, additional, Skipper, Nicola, additional, Gregory, Sally, additional, Harfield, Scott, additional, Mudd, Alexandra, additional, Wragg, Christopher, additional, Barmby, David, additional, Grech, Ever, additional, Hall, Ian, additional, Middle, Janet, additional, Barker, Joann, additional, Fofie, Joyce, additional, Gunn, Julian, additional, Housley, Kay, additional, Cockayne, Laura, additional, Weatherlley, Louise, additional, Theodorou, Nana, additional, Wheeldon, Nigel, additional, Fati, Pene, additional, Storey, Robert F., additional, Richardson, James, additional, Iqbal,, Javid, additional, Adam, Zul, additional, Brett, Sarah, additional, Agyemang, Michael, additional, Tawiah, Cecilia, additional, Hogrefe, Kai, additional, Raju, Prashanth, additional, Braybrook, Christine, additional, Gracey, Jay, additional, Waldron, Molly, additional, Holloway, Rachael, additional, Burunsuzoglu, Senem, additional, Sidgwick, Sian, additional, Hetherington, Simon, additional, Beirnes, Charmaine, additional, Fernandez, Olga, additional, Lazar, Nicoleta, additional, Knighton, Abigail, additional, Rai, Amrit, additional, Hoare, Amy, additional, Breeze, Jonathan, additional, Martin, Katherine, additional, Andrews, Michelle, additional, Patale, Sheetal, additional, Bennett, Amy, additional, Smallwood, Andrew, additional, Radford, Elizabeth, additional, Cotton, James, additional, Martins, Joe, additional, Wallace, Lauren, additional, Milgate, Sarah, additional, Munir, Shahzad, additional, Metherell, Stella, additional, Cottam, Victoria, additional, Massey, Ian, additional, Copestick, Jane, additional, Delaney, Jane, additional, Wain, Jill, additional, Sandhu, Kully, additional, Emery, Lisa, additional, Hall, Charlotte, additional, Bucciarelli-Ducci, Chiara, additional, Besana, Rissa, additional, Hussein, Jodie, additional, Bell, Sheila, additional, Gill, Abby, additional, Bales, Emily, additional, Polwarth, Gary, additional, East, Clare, additional, Smith, Ian, additional, Oliveira, Joana, additional, Victor, Saji, additional, Woods, Sarah, additional, Hoole, Stephen, additional, Ramos, Angelo, additional, Sevillano, Annaliza, additional, Nicholson, Anne, additional, Solieri, Ashley, additional, Redman, Emily, additional, Byrne, Jean, additional, Joyce, Joan, additional, Riches, Joanne, additional, Davies, John, additional, Allen, Kezia, additional, Saclot, Louie, additional, Ocampo, Madelaine, additional, Vertue, Mark, additional, Christmas, Natasha, additional, Koothoor, Raiji, additional, Gamma, Reto, additional, Alvares, Wilson, additional, Pepper, Stacey, additional, Kobson, Barbara, additional, Reeve, Christy, additional, Malik, Iqbal, additional, Chester, Emma, additional, Saunders, Heidi, additional, Mojela, Idah, additional, Smee, Joanna, additional, Davies, Justin, additional, Davies, Nina, additional, Clifford, Piers, additional, Dias, Priyanthi, additional, Kaur, Ramandeep, additional, Moreira, Silvia, additional, Ahmad, Yousif, additional, Tomlinson, Lucy, additional, Pengelley, Clare, additional, Bidle, Amanda, additional, Spence, Sharon, additional, Al-Lamee, Rasha, additional, Phuyal, Urmila, additional, Abbass, Hakam, additional, Bose, Tuhina, additional, Elliott, Rebecca, additional, Foundun, Aboo, additional, Chung, Alan, additional, Freestone, Beth, additional, Lee, Dr Kaeng, additional, Elshiekh, Dr Mohamed, additional, Pulikal, George, additional, Bhatre, Gurbir, additional, Douglas, James, additional, Kaeng, Lee, additional, Pitt, Mike, additional, Watkins, Richard, additional, Gill, Simrat, additional, Hartley, Amy, additional, Lucking, Andrew, additional, Moreby, Berni, additional, Darby, Damaris, additional, Corps, Ellie, additional, Parsons, Georgina, additional, De Mance, Gianluigi, additional, Fahrai, Gregor, additional, Turner, Jenny, additional, Langrish, Jeremy, additional, Gaughran, Lisa, additional, Wolyrum, Mathias, additional, Azkhalil, Mohammed, additional, Bates, Rachel, additional, Given, Rachel, additional, Kharbanda, Rajesh, additional, Douthwaite, Rebecca, additional, Lloyd, Steph, additional, Neubauer, Stephen, additional, Barker, Deborah, additional, Suttling, Anne, additional, Turner, Charlotte, additional, Smith, Clare, additional, Longbottom, Colin, additional, Ross, David, additional, Cunliffe, Denise, additional, Cox, Emily, additional, Whitehead, Helena, additional, Hudson, Karen, additional, Jones, Leslie, additional, Drew, Martin, additional, Chant, Nicholas, additional, Haworth, Peter, additional, Capel, Robert, additional, Austin, Rosalynn, additional, Howe, Serena, additional, Smith, Trevor, additional, Hobson, Alex, additional, Strike, Philip, additional, Griffiths, Huw, additional, Anantharam, Brijesh, additional, Jack, Pearse, additional, Thornton, Emma, additional, Hodgson, Adrian, additional, Jennison, Alan, additional, McSkeane, Anna, additional, Smith, Bethany, additional, Shaw, Caroline, additional, Leathers, Chris, additional, Armstrong, Elissa, additional, Carruthers, Gayle, additional, Simpson, Holly, additional, Smith, Jan, additional, Hodierne, Jeremy, additional, Kelly, Julie, additional, Barclay, Justin, additional, Scott, Kerry, additional, Gregson, Lisa, additional, Buchanan, Louise, additional, McCormick, Louise, additional, Kelsall, Nicci, additional, Mcarthy, Rachel, additional, Taylor, Rebecca, additional, Thompson, Rebecca, additional, Shelton, Rhidian, additional, Moore, Roger, additional, Tomlinson, Sharon, additional, Thambi, Sunil, additional, Cooper, Theresa, additional, Oakes, Trevor, additional, Deen, Zakhira, additional, Relph, Chris, additional, prentice, Scott, additional, Hall, Lorna, additional, Dillon, Angela, additional, Meadows, Deborah, additional, Frank, Emma, additional, Markham-Jones, Helene, additional, Thomas, Isobel, additional, Gale, Joanne, additional, Denman, Joanne, additional, O'Connor, John, additional, Hindle, Julia, additional, Jackson-Lawrence, Karen, additional, Warner, Karen, additional, Lee, Kelvin, additional, Upton, Robert, additional, Elston, Ruth, additional, Lee, Sandra, additional, Venugopal, Vinod, additional, Finch, Amanda, additional, Fleming, Catherine, additional, Whiteside, Charlene, additional, Pemberton, Chris, additional, Wilkinson, Conor, additional, Sebastian, Deepa, additional, Riedel, Ella, additional, Giuffrida, Gaia, additional, Burnett, Gillian, additional, Spickett, Helen, additional, Glen, James, additional, Brown, Janette, additional, Thornborough, Lauren, additional, Pedley, Lauren, additional, Morgan, Maureen, additional, Waddington, Natalia, additional, Brennan, Oliver, additional, Brady, Rebecca, additional, Preston, Stephen, additional, Loder, Chris, additional, Vlad, Ionela, additional, Laurence, Julia, additional, Smit, Angelique, additional, Dimond, Kirsty, additional, Hayes, Michelle, additional, Paddy, Loveth, additional, Crause, Jacolene, additional, Amed, Nadifa, additional, Kaur-Babooa, Priya, additional, Rakhit, Roby, additional, Kotecha, Tushar, additional, Fayed, Hossam, additional, Pavlidis, Antonis, additional, Prendergast, Bernard, additional, Clapp, Brian, additional, Perara, Divaka, additional, Atkinson, Emma, additional, Ellis, Howard, additional, Wilson, Karen, additional, Gibson, Kirsty, additional, Smith, Megan, additional, Khawaja, Muhammed Zeeshan, additional, Sanchez-Vidal, Ruth, additional, Redwood, Simon, additional, Jones, Sophie, additional, Tipping, Aoife, additional, Oommen, Anu, additional, Hendry, Cara, additional, Fath-Orboubadi, DR Fazin, additional, Phillips, Hannah, additional, Kolakaluri, Laurel, additional, Sherwood, Martin, additional, Mackie, Sarah, additional, Aleti, Shilpa, additional, Charles, Thabitha, additional, Roy, Liby, additional, Henderson, Rob, additional, Stables, Rod, additional, Marber, Michael, additional, Berry, Alan, additional, Redington, Andrew, additional, Thygesen, Kristian, additional, Andersen, Henning Rud, additional, Berry, Colin, additional, Copas, Andrew, additional, Meade, Tom, additional, Kelbæk, Henning, additional, Bueno, Hector, additional, von Weitzel-Mudersbach, Paul, additional, Andersen, Grethe, additional, Ludman, Andrew, additional, Cruden, Nick, additional, Topic, Dragan, additional, Mehmedbegovic, Zlatko, additional, de la Hera Galarza, Jesus Maria, additional, Robertson, Steven, additional, Van Dyck, Laura, additional, Chu, Rebecca, additional, Astarci, Josenir, additional, Jamal, Zahra, additional, Hetherington, Daniel, additional, and Collier, Lucy, additional

Published
2019
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10. 'Research Data Management 3: Using CORD' workshop materials

Author

Parsons, Georgina

Subjects
160511 Research, Science and Technology Policy, FOS: Political science
Abstract

The third RDM training session offered at Cranfield, run on demand though gradually being replaced by self-directed learning on the Moodle VLE.Intended Learning OutcomesBy the end of this workshop you will be able to: - log in to CORD and navigate around;- add items to CORD;- understand how and when to apply restrictions to items;- find further help and support.

Published
2018
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11. A Closer Look at Engagement

Author

Parsons, Georgina, Splawa-Neyman, Patrick, Hardeman, Megan, and Team Figshare

Abstract

Georgina Parsons from Cranfield University and Patrick Splawa-Neyman from La Trobe University share their tips and tricks for engaging researchers in data management.

Published
2018
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12. 'Research Data Management 1: Introduction' training presentation

Author

Parsons, Georgina

Abstract

Slides used in one-hour introductory RDM training sessions provided at Cranfield University to doctoral students. V1 is the 2016-2017 academic year version; pptx version includes notes. V2 is updated 2017 version with slight content tweaks and quiz addition. V3 is updated 2018 workshop version.

Published
2018
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13. 'The Impact! Game: Moving from bored to board' presentation slides

Author

Parsons, Georgina and Turner, Emma

Subjects
FOS: Media and communications, 160511 Research, Science and Technology Policy, 80708 Records and Information Management (excl. Business Records and Information Management), FOS: Political science
Abstract

Slides for the session presented at the USTLG [University Science and Technology Librarians' Group] event on innovative outreach methods, on 16 May 2018.See more details on the Impact! Game in the resource collection, DOI 10.17862/cranfield.rd.c.4080161

Published
2018
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14. How to pilot an RDM system

Author

Parsons, Georgina, Selm, Mariette Van, Splawa-Neyman, Patrick, Hardeman, Megan, and Team Figshare

Abstract

Presentation to LARD's spring meeting with examples of piloting an RDM system from Cranfield University, University of Amsterdam, and Monash University.

Published
2018
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15. Acute respiratory distress syndrome subphenotypes and differential response to simvastatin: secondary analysis of a randomised controlled trial

Author

Calfee, Carolyn S, primary, Delucchi, Kevin L, additional, Sinha, Pratik, additional, Matthay, Michael A, additional, Hackett, Jonathan, additional, Shankar-Hari, Manu, additional, McDowell, Cliona, additional, Laffey, John G, additional, O'Kane, Cecilia M, additional, McAuley, Daniel F, additional, Johnston, Andrew J, additional, Paikray, Archana, additional, Yates, Cat, additional, Polgarova, Petra, additional, Price, Esther, additional, McInerney, Amy, additional, Zamoscik, Katarzyna, additional, Dempsey, Ged, additional, Seasman, Colette, additional, Gilfeather, Lynn, additional, Hemmings, Noel, additional, O'Kane, Sinead, additional, Johnston, Paul, additional, Pokorny, Lukas, additional, Nutt, Chris, additional, O'Neill, Orla, additional, Prashast, Prashast, additional, Smalley, Chris, additional, Jacob, Reni, additional, O'Rourke, James, additional, Sultan, Syed Farjad, additional, Schilling, Carole, additional, Perkins, Gavin D, additional, Melody, Teresa, additional, Couper, Keith, additional, Daniels, Ron, additional, Gao, Fang, additional, Hull, Julian, additional, Gould, Timothy, additional, Thomas, Matthew, additional, Sweet, Katie, additional, Breen, Dorothy, additional, Neau, Emer, additional, Peel, Willis J, additional, Jardine, Catherine, additional, Jefferson, Paul, additional, Wright, Stephen E, additional, Harris, Kayla, additional, Hierons, Sarah, additional, Laffey, John, additional, McInerney, Veronica, additional, Camporota, Luigi, additional, Lei, Katie, additional, Kaul, Sundeep, additional, Chibvuri, Molly, additional, Gratrix, Andrew, additional, Bennett, Rachael, additional, Martinson, Victoria, additional, Sleight, Lisa, additional, Smith, Neil, additional, Hopkins, Philip A, additional, Hadfield, Daniel, additional, Casboult, Sarah, additional, Wade-Smith, Fiona, additional, Dawson, Julie, additional, Mellis, Clare, additional, Harris, Clair, additional, Parsons, Georgina, additional, Helyar, Sinead, additional, Bodenham, Andrew R, additional, Elliot, Stuart, additional, Beardow, Zoe, additional, Birch, Sian, additional, Marsh, Brian, additional, Martin, Teresa, additional, Dhrampal, Akesh, additional, Rosbergen, Melissa, additional, Webb, Stephen, additional, Bottrill, Fiona, additional, Reschreiter, Henrik, additional, Barcraft-Barnes, Helena, additional, Camsooksai, Julie, additional, Johnston, Andrew, additional, Clarkson, Aisling, additional, Bentley, Conor, additional, Cooper, Lauren, additional, Qui, Yongyan, additional, Mitchell, Natalie, additional, Carrera, Ronald, additional, Whitehouse, Arlo, additional, Danbury, Christopher M, additional, Jacques, Nicola, additional, Brown, Abby, additional, Rogerson, David, additional, Morris, Craig, additional, Walsh, Timothy, additional, Gillies, Mike, additional, Price, Grant, additional, Kefala, Kallirroi, additional, Young, Neil, additional, Hope, David, additional, McCulloch, Corrienne, additional, Antonelli, Jean, additional, Ramsay, Pam, additional, Everingham, Kirsty, additional, Boardman, Louise, additional, Dawson, Heidi, additional, Pollock, Fiona, additional, Thompson, Joanne, additional, Welters, Ingeborg D, additional, Poole, Lee, additional, Hampshire, Peter, additional, Hall, Alison, additional, Williams, Karen, additional, Walker, Anna, additional, Youds, Laura, additional, Hendry, Samantha, additional, Waugh, Victoria, additional, Patrick-Heselton, Julie, additional, Shaw, David, additional, Chaudry, Irfan, additional, Baldwin, Jacqueline, additional, Drage, Stephen, additional, Ortiz-Ruiz de Gordoa, Laura, additional, McAuley, Daniel, additional, Bannon, Leona, additional, Quinn, Vanessa, additional, McNamee, Lia, additional, White, Griania, additional, Cecconi, Maurizio, additional, Mellinghoff, Johannes, additional, Ryan, Donal, additional, Nichol, Alistair, additional, Agarwal, Banwari, additional, Meale, Paula, additional, James, Sarah, additional, Dhadwal, Kulwant, additional, Martin, Daniel, additional, Walecka, Agnieszka, additional, Ward, Stephen, additional, Trinder, John, additional, Hagan, Samantha, additional, Montgomery, Janice, additional, Leonard, Catherine, additional, Lemon, Elizabeth, additional, Trinick, Tom, additional, Buddhavarapu, Murthy, additional, Ward, Geraldine, additional, Bassford, Christopher, additional, Davidson, Alan, additional, McGuigan, Kate, additional, Benchiheub, Anissa, additional, Hickey, Naomi, additional, Binning, Alexander, additional, Henderson, Steven, additional, Wood, J A, additional, Burtenshaw, Andrew J, additional, Kelly, Dawn, additional, Martin, Terry, additional, Thrush, Jessica, additional, Wollaston, Julie, additional, Graystone, Stephen, additional, Nicol, Gavin, additional, and Sellors, Gareth, additional

Published
2018
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16. How to write a DMP - webinar materials

Author

Parsons, Georgina

Abstract

These are the slides and supporting documents used in Cranfield University's "How to write a DMP" webinar. (It's also run as a workshop in expanded format, see links.) The audience is both doctoral students and research staff.Workshop overviewBefore starting to collect/create data during a research project, it is important to have a data management plan (DMP) in place, as good preparation ensures you will manage your data most efficiently. Doctoral students are required to create a DMP and most research councils require a DMP to be submitted with grant proposals; Cranfield University policy requests that all research projects use a DMP. This webinar talks you through the required content of a DMP with time in each section for you to begin drafting your own content and ask questions.Intended learning outcomes (ILOs)After attending the session attendees will be able to: • explain what a data management plan is;• summarise why a DMP is important;• list data management elements to consider when writing a DMP;• find further help and support.These map to sub-domains C1 and D2 of the RDF.

Published
2017
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17. How to pilot an RDM system

Author

Parsons, Georgina, Selm, Mariette Van, Splawa-Neyman, Patrick, and Hardeman, Megan

Abstract

Presentation to LARD's spring meeting with examples of piloting an RDM system from Cranfield University, University of Amsterdam, and Monash University.

Published
2017
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18. Cranfield's RDM strategy - presentation

Author

Parsons, Georgina

Abstract

Cranfield University hosted a figshare field trip on 22 August 2017. This is the presentation given by Georgina Parsons (Open Access and Research Data Manager) to provide an update on the institutional RDM strategy and progress.Direct questions to: g.l.parsons@cranfield.ac.uk.

Published
2017
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19. 'Introduction to Research Data Management' training presentation

Author

Parsons, Georgina

Abstract

Slides used in one-hour introductory RDM training sessions provided at Cranfield University to doctoral students. (V1 is the 2016-2017 academic year version; pptx version includes notes. V2 is updated 2017 version with slight content tweaks and quiz addition.)

Published
2017
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20. figsharefest Europe presentation 'Gettin figgy with it: a year's success with figshare'

Author

Parsons, Georgina

Subjects
FOS: Economics and business, 150301 Business Information Management (incl. Records, Knowledge and Information Management, and Intelligence)
Abstract

Presentation given at figshare's European event in Amsterdam, Netherlands, 28 June 2017. Case study of Cranfield University's implementation of figshare and post-launch foci, after one year using the new repository.

Published
2017
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21. Writing a DMP - workshop materials

Author

Parsons, Georgina

Abstract

Materials used in face-to-face DMP training. Includes the PowerPoint 2013 presentation and handout, as well as six sample DMPs and Excel 2013 file of bingo cards used in the "DMP Bingo" exercise. The bingo game was developed with thanks to Megan O'Donnell (link to original set in 'references' field) . Further instructions/info is in the spreadsheet and presentation.Updated 2017-06-12 to add DMP template and rubric used, and to note it's a 1.5hr workshop with ILOs:After attending the session attendees will be able to: • explain what a data management plan is;• summarise why a DMP is important;• list data management elements to consider when writing a DMP;• find further help and support.

Published
2017
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22. Choose your own (RDM) adventure

Author

Parsons, Georgina

Subjects
ComputingMilieux_PERSONALCOMPUTING, GeneralLiterature_MISCELLANEOUS
Abstract

A simple PowerPoint "Choose your own adventure" on the basics of RDM/OA compliance with RCUK or commercial partners. Save as ppsx/play as a slideshow to click on-screen to create your adventure.

Published
2016
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23. Implementing figshare, engaging researchers

Author

Parsons, Georgina and Hardeman, Megan

Abstract

Presentation given on 6 September 2016 at the Jisc Research Data Network event (pptx version includes notes). It recaps the background to implementing figshare for institutions at Cranfield University (going live April 2016) and discusses our plans around researcher engagement.

Published
2016
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24. What the fig?! Implementing figshare at Cranfield University

Author

Parsons, Georgina

Abstract

Presentation given at the figsharefest event in London, on 12 May 2016. It discusses our RDM work at Cranfield University, summarises why we decided to implement figshare, comments on the implementation process, and outlines our plans post-implementation (the system went live in April 2016).

Published
2016
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