Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care SystemRani Sachdev, Kirsten Boggs, David Mowat et al.|JAMA|2020Cited by 235
Meeting the challenges of implementing rapid genomic testing in acute pediatric careZornitza Stark, Susan M. White, Sebastian Lunke et al.|Genetics in Medicine|2018Cited by 162
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
Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseKushani Jayasinghe, Catherine Quinlan, Zornitza Stark et al.|Genetics in Medicine|2020Cited by 125
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R. Jeffries, Emma L. Baple, Reza Maroofian et al.|Genome Research|2019Cited by 68