Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Eik Haraldsdottir"'
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Autor:
Arianna Tucci, Mark J. Caulfield, Eik Haraldsdottir, Damian Smedley, Kristina Ibáñez, Sarah Leigh, Olivia Niblock, Antonio Rueda Martin, Ivone U. S. Leong, Anna de Burca, Eleanor Williams, Rebecca E. Foulger, Richard H Scott, Ellen M. McDonagh, Emma L. Baple, Louise C. Daugherty, Katherine R. Smith, Ellen Thomas, D. Kasperaviciute, Augusto Rendon, Oleg Gerasimenko, Helen Brittain
Publikováno v:
Nature Genetics. 51:1560-1565
A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp ( https://panelapp.genomicsengland.co.uk ), a publicly avail
Autor:
Nisha Shah, Jane Kaye, Jorien Veldwijk, Jennifer Viberg Johansson, Eik Haraldsdottir, Sarah Coy, Heidi Beate Bentzen, Deborah Mascalzoni
Publikováno v:
Technology in Society, 66:101625. Elsevier Ltd.
Background Discrete Choice Experiment (DCE) is a well-established technique to elicit individual preferences, but it has rarely been used to elicit governance preferences for health data sharing. Objectives The aim of this article was to describe the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0f26a6b662d40049fe6b2c50d07b9d3
https://ora.ox.ac.uk/objects/uuid:3be92115-b1f0-4238-93d8-4c276a134d49
https://ora.ox.ac.uk/objects/uuid:3be92115-b1f0-4238-93d8-4c276a134d49
Autor:
Antonio Rueda, Martin, Eleanor, Williams, Rebecca E, Foulger, Sarah, Leigh, Louise C, Daugherty, Olivia, Niblock, Ivone U S, Leong, Katherine R, Smith, Oleg, Gerasimenko, Eik, Haraldsdottir, Ellen, Thomas, Richard H, Scott, Emma, Baple, Arianna, Tucci, Helen, Brittain, Anna, de Burca, Kristina, Ibañez, Dalia, Kasperaviciute, Damian, Smedley, Mark, Caulfield, Augusto, Rendon, Ellen M, McDonagh
Publikováno v:
Nature genetics. 51(11)
Autor:
Eik Haraldsdottir, Heidi Beate Bentzen, J. Viberg Johansson, G.A. Jónsdóttir, Sarah Coy, Nisha Shah, Jane Kaye, Deborah Mascalzoni
Publikováno v:
International Journal of Medical Informatics. 156:104623
BACKGROUND: The governance structures associated with health data are evolving in response to advances in digital technologies that enable new ways of capturing, using, and sharing different types of data. Increasingly, health data moves between diff
Autor:
Deborah Mascalzoni, Neel Shah, Jane Kaye, Eik Haraldsdottir, J. Viberg Johansson, Jorien Veldwijk, G.A. Jónsdóttir
Publikováno v:
Value in Health. 23:S681
Autor:
Runolfur Palsson, Hannes Helgason, Gardar Sveinbjornsson, Asmundur Oddsson, Gisli Masson, Patrick Sulem, Kari Stefansson, Hilma Holm, Isleifur Olafsson, Gudmar Thorleifsson, Eik Haraldsdottir, Daniel F. Gudbjartsson, Olafur S. Indridason, Gudmundur I. Eyjolfsson, Vidar O. Edvardsson, Olof Sigurdardottir, Unnur Thorsteinsdottir
Publikováno v:
Nature Communications
Kidney stone disease is a complex disorder with a strong genetic component. We conducted a genome-wide association study of 28.3 million sequence variants detected through whole-genome sequencing of 2,636 Icelanders that were imputed into 5,419 kidne
Autor:
Jennifer Viberg Johansson, Heidi Beate Bentzen, Nisha Shah, Eik Haraldsdóttir, Guðbjörg Andrea Jónsdóttir, Jane Kaye, Deborah Mascalzoni, Jorien Veldwijk
Publikováno v:
JMIR Medical Informatics, Vol 9, Iss 7, p e29614 (2021)
BackgroundDigital technological development in the last 20 years has led to significant growth in digital collection, use, and sharing of health data. To maintain public trust in the digital society and to enable acceptable policy-making in the futur
Externí odkaz:
https://doaj.org/article/e32b1b992edd43b38ea3b0feb2cedaa2