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
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Seema R. Lalani, Ruebena Dawes et al.|Nature|2024Cited by 113