Zobrazeno 1 - 10
of 174
pro vyhledávání: '"Danya F, Vears"'
Autor:
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F. Vears
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-9 (2024)
Abstract Background Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on which conditions to inclu
Externí odkaz:
https://doaj.org/article/b3d5879a00c745cba889677a3608c841
Autor:
John Christodoulou, Christopher Gyngell, Stephanie Best, Clara Gaff, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Lilian Downie, Sebastian Lunke, David J Amor, Alison Yeung, Simon Sadedin, Fiona Lynch, Sophie E Bouffler, Danya F Vears, Jade Caruana, Alison Archibald, Paul De Fazio, Ronda F Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Riccarda Peters, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall
Publikováno v:
BMJ Open, Vol 14, Iss 4 (2024)
Introduction Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes inc
Externí odkaz:
https://doaj.org/article/1ec6b926ff6c4aefb989eebe1d307a84
Autor:
Stephanie Best, Melissa Martyn, Ling Lee, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Martin Delatycki, Lilian Downie, Sebastian Lunke, Elly Lynch, Belinda Chong, Lisette Curnow, Fiona Lynch, Sophie E Bouffler, Ivan Macciocca, Giulia McCorkell, Justine E Marum, Danya F Vears, Clara L Gaff
Publikováno v:
BMJ Open, Vol 13, Iss 6 (2023)
Introduction As routine genomic testing expands, so too does the opportunity to look for additional health information unrelated to the original reason for testing, termed additional findings (AF). Analysis for many different types of AF may be avail
Externí odkaz:
https://doaj.org/article/7b9c2441a5ce4fef80e3d9c1afb28803
Autor:
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F. Vears
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 6 (2024)
Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed
Externí odkaz:
https://doaj.org/article/95edab3abc984cfc9564ef9b524d3b50
Publikováno v:
New Genetics and Society, Vol 40, Iss 4, Pp 425-448 (2021)
Although Next Generation Sequencing (NGS) has increased our ability to test and diagnose, its results are often not clear-cut and require a complex interpretation and negotiation process by both healthcare professionals and patients involved. In this
Externí odkaz:
https://doaj.org/article/891dd941b3b54ed2b30864fba434bb17
Publikováno v:
Children, Vol 10, Iss 5, p 824 (2023)
Ultra-rapid genomic sequencing (urGS) is increasingly used in neonatal and pediatric intensive care settings (NICU/PICU), demonstrating high diagnostic and clinical utility. This study aimed to explore the perspectives of healthcare professionals (HP
Externí odkaz:
https://doaj.org/article/81f86040a7884abea91015bc5150c2cf
Publikováno v:
BMC Medical Ethics, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background Genomic research can reveal ‘unsolicited’ or ‘incidental’ findings that are of potential health or reproductive significance to participants. It is widely thought that researchers have a moral obligation, grounded in the d
Externí odkaz:
https://doaj.org/article/e8177087cea04324bb111bc554758bbd
Autor:
Heidi L. Rehm, Angela J.H. Page, Lindsay Smith, Jeremy B. Adams, Gil Alterovitz, Lawrence J. Babb, Maxmillian P. Barkley, Michael Baudis, Michael J.S. Beauvais, Tim Beck, Jacques S. Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K. Bonfield, Tiffany F. Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew H. Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel L. Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley L. Clissold, Robert M. Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan J. Doerr, Lena I. Dolman, Edward S. Dove, L. Jonathan Dursi, Stephanie O.M. Dyke, James A. Eddy, Karen Eilbeck, Kyle P. Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian M. Fore, Mallory A. Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara L. Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A. Haendel, Ada Hamosh, David P. Hansen, Reece K. Hart, Dean Mitchell Hartley, David Haussler, Rachele M. Hendricks-Sturrup, Calvin W.L. Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver M. Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E. Hunt, Ammar Husami, Julius O. Jacobsen, Saumya S. Jamuar, Elizabeth L. Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Kazuto Kato, Thomas M. Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M. Knoppers, Melissa A. Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F. Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M. Lucassen, Michael Lukowski, Alice L. Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J. Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C. Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H. Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H. Nyrönen, Brian D. O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo, Helen E. Parkinson, Anthony A. Philippakis, Angel D. Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A. Rider, Peter N. Robinson, Kurt W. Rodarmer, Laura Lyman Rodriguez, Alan F. Rubin, Manuel Rueda, Gregory A. Rushton, Rosalyn S. Ryan, Gary I. Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C. Sheffield, Neerjah Skantharajah, Albert V. Smith, Heidi J. Sofia, Dylan Spalding, Amanda B. Spurdle, Zornitza Stark, Lincoln D. Stein, Makoto Suematsu, Patrick Tan, Jonathan A. Tedds, Alastair A. Thomson, Adrian Thorogood, Timothy L. Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F. Vears, Coby Viner, Craig Voisin, Alex H. Wagner, Susan E. Wallace, Brian P. Walsh, Marc S. Williams, Eva C. Winkler, Barbara J. Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki, Andrew D. Yates, Christina K. Yung, Lyndon J. Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney
Publikováno v:
Cell Genomics, Vol 1, Iss 2, Pp 100029- (2021)
Summary: The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cos
Externí odkaz:
https://doaj.org/article/8843ca96b8394774b7bfa2e49aa0584a
Publikováno v:
Twin Research and Human Genetics. :1-7
This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests. In this Statement, the term ‘carrier testing’ refers to genetic testing in an indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::144c1ceffe376444c8b4281579d52ac5
https://doi.org/10.1017/thg.2023.15
https://doi.org/10.1017/thg.2023.15
Autor:
Danya F. Vears, Joel T. Minion, Stephanie J. Roberts, James Cummings, Mavis Machirori, Mwenza Blell, Isabelle Budin-Ljøsne, Lorraine Cowley, Stephanie O. M. Dyke, Clara Gaff, Robert Green, Alison Hall, Amber L. Johns, Bartha M. Knoppers, Stephanie Mulrine, Christine Patch, Eva Winkler, Madeleine J. Murtagh
Publikováno v:
PLoS ONE, Vol 16, Iss 11 (2021)
Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to systematically review the empirical literature exploring stakeh
Externí odkaz:
https://doaj.org/article/08013997ec0e494496b417420b999001