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
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Carlos A. Bacino, Justine Rousseau et al.|The American Journal of Human Genetics|2018Cited by 91