Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Michelle G. de Silva"'
Autor:
Ella Wilson, Richard Leventer, Chloe Cunningham, Michelle G. de Silva, Jan Hodgson, Eloise Uebergang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background/Aim Leukodystrophies comprise a group of genetic white matter disorders that lead to progressive motor and cognitive impairment. Recent development of novel therapies has led to an increase in clinical trials for leukodystrophies.
Externí odkaz:
https://doaj.org/article/487e4ce11c284403a3fb5119d2228ff9
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice
Autor:
Ingrid E, Scheffer, Caitlin A, Bennett, Deepak, Gill, Michelle G, de Silva, Kirsten, Boggs, Justine, Marum, Naomi, Baker, Elizabeth E, Palmer, Susan M, White
Publikováno v:
Developmental Medicine & Child Neurology. 65:50-57
To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs).Over 2 years, patients with DEEs were recruited for singleton exome sequencing. Parental segregation was performed where indicate
Autor:
Simon Sadedin, Alison Yeung, Natasha J Brown, David S. Francis, Katrina M. Bell, David R. Thorburn, Lyndon Gallacher, Justine Elliott, Michelle G. de Silva, Alysia Lovgren, Lilian Downie, Anne H. O’Donnell-Luria, Chloe A Stutterd, Sze Chern Lim, George McGillivray, Martin B. Delatycki, Zornitza Stark, Thomas Cloney, John Christodoulou, Tiong Yang Tan, Susan M. White, Lynn Pais, Cas Simons, Daniel G. MacArthur, Ralph Oertel, Alison G. Compton, Guy Helman, Natalie B Tan
Publikováno v:
J Med Genet
BackgroundClinical exome sequencing typically achieves diagnostic yields of 30%–57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals.AimWe share
Publikováno v:
J Community Genet
Clinical genomic testing, analysis of your entire genetic material for healthcare purposes, is a complex topic for various medical specialities. Although Australia is a multicultural society, most genomic resources are produced in English which can m
Autor:
Susan M. White, Mark R. Oliver, Theresa Cole, David S. Francis, Lauren S. Akesson, Peter J Simm, Michelle G. de Silva
Publikováno v:
Journal of Paediatrics and Child Health. 57:1109-1112
Autor:
Jodie Ingles, Kathy H C Wu, Desiree Hilton, Michelle G. de Silva, Linda J. Wornham, Sophie Devery, Matilda R. Jackson, Michael C.J. Quinn, Clifford Afoakwah, Stefanie Elbracht-Leong, Alejandro Metke-Jimenez, Christopher Semsarian, Julie McGaughran, Angela Overkov, Gemma Correnti, Jaye S. Brown, Hugo Leroux, Ellenore M. Martin, John Atherton, Rachel Austin, Ivan Macciocca, Paul Anthony Scuffham, T. Thompson
Background: This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation-wide audit in Australia to establish the current practices across cardiac genetics clinics. Method: An audit of records
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b9def0bf9b0f6a440bf2919f660ec2
https://hdl.handle.net/11541.2/147358
https://hdl.handle.net/11541.2/147358
Autor:
Sarah A. Sandaradura, Christopher Barnett, Jason Pinner, Sebastian Lunke, Lyndon Gallacher, Kirsten Boggs, Amanda Springer, Melissa Martyn, Chirag Patel, Sarah Schenscher, Lindsay F. Fowles, Fiona Lynch, Samantha Ayres, Michelle G. de Silva, Anne Baxendale, Emma I. Krzesinski, Gemma R Brett, Sarah L King-Smith, Anand Vasudevan, Meredith Wilson, Zornitza Stark
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)
Purpose: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. Methods: Parents of critically unwell children who participated in a national ultrarapid genomic diagnosis program were surveyed
Autor:
Anna E. Richards, Emma I. Krzesinski, Stefanie Eggers, Lauren Hunt, Michelle G. de Silva, Matthew S. Edwards, Megan Higgins, Lyndon Gallacher, Stephanie Best, Kirsten Boggs, Lindsay F. Fowles, Sarah Lang, Alan Ma, Edwin P. Kirk, Zornitza Stark, George Elakis, Natasha J Brown, Lauren S. Akesson, Michael Buckley, Alison Yeung, Sebastian Lunke, Michael C Fahey, Susan M. White, Christopher M. Richmond, Amanda Springer, David Mowat, Alessandra Bray, Janine Smith, Sarah Borrie, Luregn J. Schlapbach, Jessica R. Riseley, Ying Zhu, Jonathan Rodgers, Dean Phelan, Rani Sachdev, Chirag Patel, Sarah A. Sandaradura, Sarah R. B. King, Christopher P. Barnett, John Christodoulou, Maelle Le Moing, Lesley C. Adès, Gemma R Brett, Katherine B. Howell, Meredith Wilson, Matthew F. Hunter, Anne Baxendale, Natalie B Tan, Belinda Chong, Anand Vasudevan, Tiong Yang Tan, Kristi J. Jones, Christiane Theda, Michael C.J. Quinn, Andrew Fennell, Jason Pinner, Smitha Kumble, Melissa Martyn, Tony Roscioli, Cheng Yee Chan, Simon Sadedin, Corrina Cliffe, David J. Amor, Suzanna L. Temple, Samantha Ayres, Martin B. Delatycki
Multiple studies have shown that genomic testing has a high diagnostic yield and an impact on clinical management for patients with suspected genetic conditions. Therefore, there has been a push worldwide to apply rapid genomic sequencing in critical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a33ca900ac169cc9fafbd67055827d1
https://hdl.handle.net/11541.2/145752
https://hdl.handle.net/11541.2/145752
Autor:
Jonathan Rodgers, Alan Ma, Michael C Fahey, Lauren Hunt, Melissa Martyn, Tony Roscioli, Dean Phelan, Chirag Patel, Michael C.J. Quinn, Sarah R. B. King, Lindsay F. Fowles, Christopher P. Barnett, Anne Baxendale, Cheng Yee Chan, Christiane Theda, Lauren S. Akesson, Luregn J. Schlapbach, Jessica R. Riseley, Anna E. Richards, Simon Sadedin, Matthew S. Edwards, Edwin P. Kirk, Ying Zhu, Corrina Cliffe, Matthew F. Hunter, Tiong Yang Tan, Stephanie Best, Kirsten Boggs, Emma I. Krzesinski, Rani Sachdev, Megan Higgins, David J. Amor, George Elakis, Sarah A. Sandaradura, Stefanie Eggers, Michael Buckley, Susan M. White, Samantha Ayres, Suzanna L. Temple, Maelle Le Moing, Janine Smith, Martin B. Delatycki, Natalie B Tan, John Christodoulou, Jason Pinner, Alison Yeung, Amanda Springer, David Mowat, Belinda Chong, Anand Vasudevan, Sarah Borrie, Smitha Kumble, Lesley C. Adès, Andrew Fennell, Kristi J. Jones, Gemma R Brett, Zornitza Stark, Meredith Wilson, Katherine B. Howell, Natasha J Brown, Sarah Lang, Christopher M. Richmond, Michelle G. de Silva, Sebastian Lunke, Alessandra Bray, Lyndon Gallacher
Publikováno v:
JAMA. 323:2503
IMPORTANCE: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems.OBJECTIVE: To prospectively evaluate the per
Autor:
Hans-Henrik M. Dahl, Tuomas Klockars, Richard J.H. Smith, Michael S. Hildebrand, Colleen A. Campbell, Michelle G. de Silva
Publikováno v:
Hearing Research. 225:1-10
Recent developments in molecular genetics, including progress in the human genome project, have allowed identification of genes at an unprecedented rate. To date gene expression profiling studies have focused on identifying transcripts that are speci