Whole-genome sequencing of a sporadic primary immunodeficiency cohort

著者: James Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae, Daniel Greene, Emily Staples, Zinan Zhang, James H. R. Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J. Penkett, Jonathan Stephens, Sri V. V. Deevi, Alba Sanchis‐Juan, Nicholas Gleadall, Moira Thomas, Ravishankar Sargur, Pavels Gordins, Helen E. Baxendale, Matthew A. Brown, Paul Tuijnenburg, Austen Worth, Steven Hanson, Rachel Linger, Matthew S. Buckland, Paula Rayner-Matthews, Kimberly Gilmour, Crina Samarghitean, Suranjith L. Seneviratne, David M. Sansom, Andy G. Lynch, Karyn Mégy, Eva Ellinghaus, David Ellinghaus, Silje F. Jørgensen, Tom H. Karlsen, Kathleen Stirrups, Antony J. Cutler, Dinakantha Kumararatne, Anita Chandra, David Edgar, Archana Herwadkar, Nichola Cooper, Sofia Grigoriadou, Aarnoud Huissoon, Sarah Goddard, Stephen Jolles, Catharina Schuetz, Felix Boschann, Stephen Abbs, Zoe Adhya, Julian Adlard, Maryam Afzal, Irshad Ahmed, Munaza Ahmed, Saeed Ahmed, Timothy J. Aitman, Hana Alachkar, Jayanthi Alamelu, Raza Alikhan, Carl E. Allen, Louise Allen, David Allsup, Arif Alvi, Gautam Ambegaonkar, Ariharan Anantharachagan, Philip Ancliff, Julie A. Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Rita Arya, Sofie Ashford, William J. Astle, Anthony Attwood, Steve Austin, Yeşim Aydınok, Waqar Ayub, Christian Babbs, Chiara Bacchelli, Trevor Baglin, Tamam Bakchoul, Tadbir K. Bariana, Jonathan Barratt, Julian Barwell, John Baski, Rachel W. Bates, Joana Batista, Helen E. Baxendale, Gareth Baynam, David Bennett, Claire Bethune, Neha Bhatnagar, Shahnaz Bibi, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Marta Bleda, Iulia Blesneac, Barbara Boardman, Preetham Boddana, Harm Jan Bogaard, Claire Booth, Sara Boyce, John R. Bradley, Angela F. Brady, Gerome Breen, Paul Brennan, Carole Brewer, Annette Briley, Matthew A. Brown, Richard Brown, Michael J. Browning, Mary Brownlie, Christine Bryson, Rachel Buchan, Jackie Buck, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, Siobhan O. Burns, Oliver S. Burren, Paul Calleja, Jenny Carmichael, Gerald Carr‐White, Keren Carss, Ruth Casey, Elizabeth Chalmers, Jenny Chambers, John C. Chambers, Melanie Chan, Melissa V. Chan, Anita Chandra, Floria Cheng, Iván K. Chinn, Patrick F. Chinnery, Manali Chitre, Sam Chong, Martin Christian, Colin Church, Emma Clement, Naomi Clements Brod, Hayley Clifford, Virginia Clowes, Gerry Coghlan, Elizabeth Colby, Trevor Cole, Janine Collins, Peter W. Collins, Robin Condliffe, H. Terence Cook, Stuart A. Cook, Victoria Cookson, Nichola Cooper, Paul A. Corris, Amanda Creaser-Myers, Abigail Crisp-Hihn, Nicola Curry, Antony J. Cutler, Rosa da Penha Ferreira da Costa, Cesare Danesino, Matthew J. Daniels, Damaris Darby, Louise C. Daugherty, E. Graham Davies, Sophie Davies, John Davis, Godelieve J. de Bree, Sarah Deacock, Patrick Deegan, Sri V. V. Deevi, John Dempster, Timothy Dent, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Anand Dixit, Peter Dixon, Rainer Döffinger, Helen Dolling, Natalie Dormand, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, David Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Tariq El‐Shanawany, Shuayb Elkhalifa, Tony Elston, Ingrid Emmerson, Wendy N. Erber, Marie Erwood, Maria C. Estiú, D. Gareth Evans, Gillian Evans, Tamara Everington, Mélanie Eyries, James H. R. Farmery, Rémi Favier, Helen V. Firth, Maggie Fitzpatrick, Debra Fletcher, Frances Flinter, James C. Fox, Amy Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Bruce Furie, Daniel P. Gale, Henning Gall, Alice Gardham, H. Bobby Gaspar, Michael Gattens, Neeti Ghali, Pavandeep Ghataorhe, Stefano Ghio, Hossein-Ardeschir Ghofrani, Rohit Ghurye, J. Simon R. Gibbs, Rodney D. Gilbert, Kimberly Gilmour, Barbara Girerd, Joanna Girling, Paul Gissen, Nicholas Gleadall, Sarah Goddard, Pavels Gordins, Kathleen M. Gorman, David Gosal, Stefan Gräf, Luigi Grassi, Daniel Greene, Alan Greenhalgh, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip G. Griffiths, S. W. Griffiths, Sofia Grigoriadou, Detelina Grozeva, Scott Hackett, Robert D. M. Hadden, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew D. Hall, Csaba Halmagyi, Tracey Hammerton, Helen Hanson, Kirsty Harkness, Andrew R. Harper, Lorraine Harper, Claire L. Harris, Claire Harrison, Daniel Hart, Ahamad Hassan, Grant Hayman, Johan W. M. Heemskerk, Shivaram Hegde, Alex Henderson, Robert H. Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Joshua Hodgson, Jonathan Hoffman, Simon Holden, Muriel Holder, Rita Horváth, Henry Houlden, Arjan C. Houweling, Luke Howard, Fengyuan Hu, Gavin Hudson, Sean Hughes, Stephen Hughes, Anna E. Huis in ‘t Veld, Aarnoud Huissoon, Marc Humbert, Matthew E. Hurles, Jane A. Hurst, Val Irvine, Louise Izatt, Roger James, Praveen Jeevaratnam, Mark S. Johnson, Sally Johnson, Stephen Jolles, Jennifer D. Jolley, Bryony Jones, Julie R. Jones, Dragana Josifova, Neringa Jurkutė, Mohammed Yousuf Karim, Mahantesh A. Karoshi, Mary Kasanicki, Hanadi Kazkaz, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Carly Kempster, Fiona Kennedy, Sorena Kiani, David G. Kiely, Nathalie Kingston, Sally E. Kinsey, Nigel Klein, Robert Klima, Ellen Knox, Myrto Kostadima, Gábor Kovács, Ania Koziell, Roman Kreuzhuber, Deepa Krishnakumar, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, James Laffan, Michael Laffan, Fiona Lalloo, Michele P. Lambert, Hana Lango Allen, Sarah Lawman, Allan Lawrie, D. Mark Layton, Sara Lear, Melissa Lees, Claire Lentaigne, Adam P. Levine, Andrew Lewington, Wei Li, Ri Liesner, Rachel Linger, Bin Liu, Hilary Longhurst, Lorena Lorenzo, Eleni Louka, Silvia Lucato Hadeler, Paul Lyons, Malcolm MacDougall, Rajiv D. Machado, Robert V. MacKenzie Ross, Lucy Mackillop, Robert E. MacLaren, Bella Madan, Laura A. Magee, Mohamed Mahdi-Rogers, Eamonn R. Maher, Jesmeen Maimaris, Mike Makris, Sarah Mangles, Ania Manson, Adnan Manzur, Rutendo Mapeta, Kevin J. Marchbank, Patrick B. Mark, Stephen D. Marks, Hugh S. Markus, Hanns–Ulrich Marschall, Andrew Marshall, Jennifer M. Martin, Larahmie Masati, Mary Mathias, Vera Matser, Emma Matthews, Anna Maw, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Elizabeth McDermott, Simon J. McGowan, Coleen McJannet, Harriet McKinney, Stuart Meacham, Adam J. Mead, Ignacio Medina Castello, Sharon Meehan, Karyn Mégy, Sarju Mehta, Catherine L. Mercer, Michel Michaelides, Anna C. Michell, David V. Milford, Carolyn M. Millar, Hazel Millar, Anoop Mistry, Floor CJI Moenen, Shahin Moledina, David Montani, Anthony T. Moore, Jason H. Moore, Nicholas W. Morrell, Valerie Morrisson, Monika Mozere, Keith W. Muir, Andrew Mumford, Sai Murng, Iman Nasir, Sergey Nejentsev, Michael Newnham, Joanne Ng, Adeline Ngoh, Sadia Noorani, Muna Noori, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Steven Okoli, Éric Oksenhendler, Andrea Olschewski, Horst Olschewski, Albert Ong, Kai Ren Ong, S. Oram, Elizabeth Ormondroyd, Shokri Othman, Willem H. Ouwehand, Antonis Pantazis, Sofia Papadia, Apostolos Papandreou, Soo‐Mi Park, Alasdair Parker, David Parry, Georgina Parsons, John Pasi, Joan Paterson, Jeanette H. Payne, Andrew J. Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke‐Żaba, David J. Perry, R. Petersen, Bartłomiej Piechowski‐Jóźwiak, Fernando Pinto, Gary Polwarth, Mark Ponsford, Sanjay Prasad, Inga Prokopenko, Beth Psaila, Angela Pyle, Waseem Qasim, Ellie Quinn, Isabella Quinti, Sanjay Raina, Lavanya Ranganathan, Julia Rankin, Stuart Rankin, Anupama Rao, F. Lucy Raymond, Paula Rayner-Matthews, Karola Rehnström, Evan Reid, Mary M. Reilly, Tara Renton, Shoshana Revel‐Vilk, Christopher J. Rhodes, Andrew S.C. Rice, Emma E. Richards, Mike Richards, Sylvia Richardson, Alex Richter, Leema Robert, Irene Roberts, Matthew T. Rondina, Elisabeth Rosser, Peter M. Rothwell, Catherine Roughley, Noémi Roy, Kévin Rue-Albrecht, Omid Sadeghi‐Alavijeh, Moin A. Saleem, Richard M. Salmon, Nilesh J. Samani, Crina Samarghitean, Jennifer G. Sambrook, Alba Sanchis‐Juan, Richard Sandford, Saikat Santra, Ravishankar Sargur, Simon C. Satchell, Sinisa Savic, Laura Scelsi, Gwen Schotte, Sol Schulman, Harald Schulze, Richard H. Scott, Marie Scully, Claire Searle, Werner Seeger, Suranjith L. Seneviratne, William A. Sewell, Denis Seyres, Fiona Shackley, Olga Shamardina, Susan Shapiro, Pankaj Sharma, Hassan Shehata, Deborah Shipley, Rakefet Chen‐Shtoyerman, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Manish D. Sinha, Suthesh Sivapalaratnam, Anne‐Bine Skytte, Kenneth G. C. Smith, Katie Snape, Linda Sneddon, Aman Sohal, Florent Soubrier, Laura Southgate, Mark Southwood, Miranda Splitt, Simon Staines, Emily Staples, Hannah Stark, Hans J. Stauss, Cathal Steele, Dan J. Stein, Penelope E. Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Matthew Stubbs, Jay Suntharalingam, Emilia M. Swietlik, Emily Symington, Robert C. Tait, Kate Talks, Rhea Tan, Gordon Taylor, Jecko Thachil, James Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira Thomas, Patrick Thomas, Dorothy Thompson, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Tobias Tilly, Marc Tischkowitz, Catherine Titterton, John A. Todd, Cheng‐Hock Toh, Anton T. J. Tool, Mark Toshner, Matthew Traylor, Carmen Treacy, Paul Treadaway, Richard C. Trembath, Sarah Trippier, Salih Tuna, Wojciech Turek, Ernest Turro, Paul D. Upton, Rafał Urniaż, Tom Vale, Chris Van Geet, Natalie R. van Zuydam, Anthony M. Vandersteen, Marta Vazquez‐Lopez, Marijcke W. M. Veltman, Julie Vogt, Julie von Ziegenweidt, Anton Vonk Noordegraaf, Ajay Vora, Minka J. A. Vries, Emma Wakeling, Neil Walker, Suellen M. Walker, Roddy Walsh, Ivy Wanjiku, James S. Ware, Timothy Q. Warner, Evangeline Wassmer, Hugh Watkins, Henry G. Watson, Christopher D. Watt, Dean Waugh, Nick Webb, Andrew R. Webster, Wei Wei, Angela Welch, Steven Welch, David J. Werring, Julie Wessels, Sarah K. Westbury, John-Paul W. Westwood, John Wharton, Deborah Whitehorn, James Whitworth, Martin R. Wilkins, Lisa Willcocks, David Williams, Catherine Williamson, Edwin Wong, Nicholas Wood, Yvette Wood, C. Geoffrey Woods, Emma R. Woodward, Sarita Workman, Stephen J. Wort, Austen Worth, Katherine Yates, Nigel Yeatman, Patrick Yong, Timothy M. Young, Ping Yu, Patrick Yu‐Wai‐Man, Eliska Zlamalova, Paul Lyons, Matthew E. Hurles, Sinisa Savic, Siobhan O. Burns, Taco W. Kuijpers, Ernest Turro, Willem H. Ouwehand, Adrian J. Thrasher, Kenneth G. C. Smith - Nature 2020 被引用: 242