Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care SystemRani Sachdev, Chirag Patel, Christopher Barnett et al.|JAMA|2020Cited by 235
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Zornitza Stark, Sophie E. Bouffler et al.|Nature Medicine|2023Cited by 140