Publications

Australian Genomics and partner publications

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.

Akesson LS, Bournazos A, Fennell A, Krzesinski EI, Tan K, Springer A, et al. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Human mutation. 2020.

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.

Goranitis I, Best S, Stark Z, Boughtwood T, Christodoulou J. The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment. Genetics in Medicine. 2020.

Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective. 

Blue GM, Smith J, Sholler GF, Semsarian C, Winlaw DS, Australian Genomics Cardiovascular Genetic Disorders F. Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective. Heart, lung & circulation. 2020.

Australian Genomics Reports

Stark Z, Bouffler S, Boughtwood T, for Australian Genomics (October 2019). Reviewed and updated August 2020.

Haas M, for Australian Genomics (October 2019). Reviewed and updated March 2020.

Other genomics publications of interest

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.

Yeung A, Tan NB, Tan TY, Stark Z, Brown N, Hunter MF, et al. Genetics in medicine : official journal of the American College of Medical Genetics. 2020.

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

Martin, A.R., Williams, E., Foulger, R.E., Leigh, S., Daugherty, L.C., Niblock, O., et al. (2019). Nat Genet.

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.

Burns, B.L., Bilkey, G.A., Coles, E.P., Bowman, F.L., Beilby, J.P., Pachter, N.S., et al. (2019). Frontiers in Public Health.