Best, Stephanie

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

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D. G., Chong, B., Fanjul-Fernandez, M., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 159

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.

Stark, Z., Nisselle, A., McClaren, B., Lynch, F., Best, S., Long, J. C., Martyn, M., Patel, C., Schlapbach, L. J., Barnett, C., et al. (2019) · European Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 43