Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.
Jayasinghe, K., Stark, Z., Patel, C., Mallawaarachchi, A., McCarthy, H., Faull, R., et al. (2019). BMJ Open.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson, L.S., Eggers, S., Love, C.J., Chong, B., Krzesinski, E.I., Brown, N.J., et al. (2019). European Journal of Human Genetics.
Stark, Z., Boughtwood, T., Phillips, P., Christodoulou, J., Hansen, D.P., Braithwaite, J., et al. (2019). Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. Am J Hum Genet, 105(1), 7-14.