Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke,Stefanie Eggers,Meredith Wilson,Chirag Patel,Christopher Barnett,Jason Pinner,Sarah A. Sandaradura,Michael F. Buckley,Emma I. Krzesinski,Michelle G. de Silva,Gemma R Brett,Kirsten Boggs,David Mowat,Edwin P. Kirk,Lesley C. Adès,Lauren S Akesson,David J. Amor,Samantha Ayres,Anne Baxendale,Sarah Borrie,Alessandra Bray,Natasha J Brown,Cheng Yee Chan,Belinda Chong,Corrina Cliffe,Martin B. Delatycki,Matthew Edwards,George Elakis,Michael Fahey,Andrew Fennell,Lindsay F. Fowles,Lyndon Gallacher,Megan Higgins,Katherine Howell,Lauren Hunt,Matthew F. Hunter,Kristi Jones,Sarah King,Smitha Kumble,Sarah Lang,Maelle Le Moing,Alan Ma,Dean Phelan,Michael C. Quinn,Anna Richards,Christopher Richmond,Jessica R. Riseley,Jonathan Rodgers,Rani Sachdev,Simon Sadedin,Luregn J. Schlapbach,Janine Smith,Amanda Springer,Natalie B Tan,Tiong Yang Tan,Suzanna L. Temple,Christiane Theda,Anand Vasudevan,Susan White,Alison Yeung,Ying Zhu,Melissa Martyn,Stephanie Best,Tony Roscioli,John Christodoulou,Zornitza Stark

Obstetrical & Gynecological Survey（2020）

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摘要

(Abstracted from JAMA 2020;323(24):2503–2511) 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 critically ill neonatal and pediatric patients.

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关键词

critically ill infants,suspected monogenic conditions,ultra-rapid

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