Publications, reports & submissions
Klotho inhibits neuronal senescence in human brain organoids
Mohammed R. Shaker, Julio Aguado, Harman Kaur Chaggar & Ernst J. Wolvetang. npj Aging and Mechanisms of Disease. 2021.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, et al. The American Journal of Human Genetics. 2021.
Organizational perspectives on implementing complex health interventions: clinical genomics in Australia
Best S, Long JC, Gaff C, Braithwaite J, Taylor N. Journal of Health Organization and Management. 2021.
Measuring physician practice, preparedness and preferences for genomic medicine: a national survey
Amy Nisselle, Emily A King, Belinda McClaren, Monika Janinski, Sylvia Metcalfe, Clara Gaff, et al. BMJ Open. 2021.
Independent Hospital Pricing Authority (IHPA) Pricing Framework for Australian Public Hospital Services 2022-23
Every year, the Independent Hospital Pricing Authority consults on its Pricing Framework for the following year, which sets pricing and policy decisions underlying the Activity Based Funding system. Read our submission.
Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community—a mixed methods study
Eloise Uebergang, Stephanie Best, Michelle G. de Silva & Keri Finlay. Journal of Community Genetics. 2021.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian HY Chung, Marcus CY Chan, et al. Journal of Medical Genetics. 2021.
A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol
Yeu-Yao Cheng, Jack Nunn, John Skinner, Boe Rambaldini, Tiffany Boughtwood, Tom Calma, et al. Methods and protocols. 2021.
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation
You Wu, Shanti Balasubramaniam, Rocio Rius, David R. Thorburn, John Christodoulou & Ilias Goranitis. European Journal of Human Genetics. 2021.
Study protocol: the Australian genetics and life insurance moratorium—monitoring the effectiveness and response (A-GLIMMER) project
Jane Tiller, Aideen McInerney-Leo, Andrea Belcher, Tiffany Boughtwood, Penny Gleeson, Martin Delatycki, et al. BMC Medical Ethics. 2021.