Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maelle Le Moing"'
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:
Susan M. White, Joy Yaplito-Lee, Marzena Walkiewicz, Cas Simons, Maelle Le Moing, Maria Fuller, Victoria Rodriguez-Casero, Gabriel Dabscheck, Stefanie Eggers, Guy Helman, Lauren E Taylor
Publikováno v:
European Journal of Medical Genetics. 64:104259
RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing, providing utility in diagnosis for disorders such as neuronal ceroid lipofuscinosis CLN2 disease. We describe an individual with a presentation suggestive of an attenuated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5d00f1ced856690436c6cd4d9a6640
https://doi.org/10.1016/j.ejmg.2021.104259
https://doi.org/10.1016/j.ejmg.2021.104259
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9387a6ecd4f32a6f7da6e8a231e7a617
https://doi.org/10.1001/jama.2020.7671
https://doi.org/10.1001/jama.2020.7671