Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Caron Molster"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background People living with rare disease often have protracted journeys towards diagnosis. In the last decade, programs have arisen around the world that are dedicated to ending this ‘diagnostic odyssey’, including the Undiagnosed Dise
Externí odkaz:
https://doaj.org/article/9481761154f74e1fac0c6269821158df
Autor:
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-spe
Externí odkaz:
https://doaj.org/article/fd1d44fbca064efaae5bfc0d962bda6b
Publikováno v:
Frontiers in Public Health, Vol 6 (2018)
In the USA, a bill has been introduced to the senate that may jeopardize an individual's rights to privacy and non-discrimination. This piece examines the proposed Preserving Employee Wellness Programs Act (PEWPA), and implications this will have on
Externí odkaz:
https://doaj.org/article/13f77cbe9900477db9a4b7ddf6223d80
Autor:
Caron Molster, Alicia Bauskis
BackgroundPeople living with rare diseases face complex medical needs as well as a range of non-medical care needs. However, there is limited research on the experiences of care coordination for those living with a range of rare conditions. The paper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ca5fc62b2f12bb7689d06138e1c71fd
https://doi.org/10.21203/rs.3.rs-17749/v1
https://doi.org/10.21203/rs.3.rs-17749/v1
Autor:
Gerald F. Watts, Alistair Vickery, Caron Molster, Faye L. Bowman, Jacquie Garton-Smith, Karla J. Lister, Andrew J. Martin, Alicia Bauskis
Publikováno v:
Public health genomics. 22(1-2)
Background/Aims: Familial hypercholesterolaemia (FH) is a common genetic disorder that, if untreated, predisposes individuals to premature coronary heart disease. As most individuals with FH remain undiagnosed, new approaches to detection are needed
Autor:
Hayley Christian, Alethea Rea, Denise Howting, Gianina Ravenscroft, Royston Ong, Caron Molster, Pauline Charman, Nigel G. Laing
Publikováno v:
Journal of medical genetics. 55(11)
BackgroundPreconception carrier screening (PCS) provides the potential to empower couples to make reproductive choices before having an affected child. An important question is what factors influence the decision to use or not use PCS.MethodsWe analy
Autor:
Gareth, Baynam, Faye, Bowman, Karla, Lister, Caroline E, Walker, Nicholas, Pachter, Jack, Goldblatt, Kym M, Boycott, William A, Gahl, Kenjiro, Kosaki, Takeya, Adachi, Ken, Ishii, Trinity, Mahede, Fiona, McKenzie, Sharron, Townshend, Jennie, Slee, Cathy, Kiraly-Borri, Anand, Vasudevan, Anne, Hawkins, Stephanie, Broley, Lyn, Schofield, Hedwig, Verhoef, Tudor, Groza, Andreas, Zankl, Peter N, Robinson, Melissa, Haendel, Michael, Brudno, John S, Mattick, Marcel E, Dinger, Tony, Roscioli, Mark J, Cowley, Annie, Olry, Marc, Hanauer, Fowzan S, Alkuraya, Domenica, Taruscio, Manuel, Posada de la Paz, Hanns, Lochmüller, Kate, Bushby, Rachel, Thompson, Victoria, Hedley, Paul, Lasko, Kym, Mina, John, Beilby, Cynthia, Tifft, Mark, Davis, Nigel G, Laing, Daria, Julkowska, Yann, Le Cam, Sharon F, Terry, Petra, Kaufmann, Iiro, Eerola, Irene, Norstedt, Ana, Rath, Makoto, Suematsu, Stephen C, Groft, Christopher P, Austin, Ruxandra, Draghia-Akli, Tarun S, Weeramanthri, Caron, Molster, Hugh J S, Dawkins
Publikováno v:
Advances in experimental medicine and biology. 1031
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the h
Autor:
Gareth, Baynam, Caron, Molster, Alicia, Bauskis, Emma, Kowal, Ravi, Savarirayan, Margaret, Kelaher, Simon, Easteal, Libby, Massey, Gail, Garvey, Jack, Goldblatt, Nicholas, Pachter, Tarun S, Weeramanthri, Hugh J S, Dawkins
Publikováno v:
Advances in experimental medicine and biology. 1031
Advances in our understanding of genetic and rare diseases are changing the face of healthcare. Crucially, the global community must implement these advances equitably to reduce health disparities, including between Indigenous and non-Indigenous peop
Autor:
Cathy Kiraly-Borri, Peter Wynn Owen, Nicholas Pachter, Stefanie Kung, Stephanie Broley, Caroline E. Walker, Hugh Dawkins, Kenjiro Kosaki, Béla Melegh, Gervase Chaney, Jennie Slee, Cathryn Poulton, Caron Molster, Jack Goldblatt, Richard Palmer, Anand Vasudevan, Allison Johns, William A. Gahl, Frank Daly, Helene Wilhelm, John S. Mattick, Andreas Zankl, Sayanta Jana, Fiona Haslam McKenzie, Gargi Pathak, Tarun Weeramanthri, Tony Roscioli, Anne Hawkins, Petra Helmholz, Tudor Groza, Gareth Baynam, John Beilby, Cynthia J. Tifft, Barry Lewis, Stephen C. Groft, Jonathan R. Carapetis, Domenica Taruscio, Kym Mina, Paul Lasko, Sharron Townshend, Alicia Bauskis, Lyn Schofield, Marcel E. Dinger
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific gen
Autor:
Karla J. Lister, Gareth Baynam, Selina Metternick-Jones, Caron Molster, Volker Straub, Hugh Dawkins, Angus John Clarke, Nigel G. Laing
Publikováno v:
Frontiers in Public Health
Background: Consideration of expanded carrier screening has become an emerging issue for governments. However traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be326c8e51a68228a3907cefcd8c751a
https://orca.cardiff.ac.uk/id/eprint/102604/1/0534.pdf
https://orca.cardiff.ac.uk/id/eprint/102604/1/0534.pdf