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Our publications

Publications, reports & submissions

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

Richard G Lee, Shanti Balasuramaniam, Maike Stentenbach, Tom Kralj, Timothy McCubbin, Benjamin Padman, et al. Human Molecular Genetics. 2022.

Living with a genetic, undiagnosed or rare disease: A longitudinal journalling study through the COVID-19 pandemic

Byun M, Feller H, Ferrie M, Best S. Health Expectations. 2022.

Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study

Vidgen ME, Fowles LF, Istiko SN, Evans E, Cutler K, Sullivan K, et al. Frontiers in Genetics. 2022.

Standardizing variation: Scaling up clinical genomics in Australia

Best S, Long JC, Braithwaite J, Taylor N. Genetics in Medicine. 2022.

Australian Genomics: The first five years

Executive summary, Final Report to the NHMRC (December 2021).

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, et al. International Journal of Molecular Sciences. 2022.

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease

Best S, Vidic N, An K, Collins F, White SM. European Journal of Human Genetics. 2022.

Exposure Draft of the National Research Infrastructure Roadmap

Read our submission on the draft National Research Infrastructure Roadmap, which aims to provide a roadmap and vision for National Research Infrastructure investment for the next 5 to 10 years.

Australian Genomics Business Continuity Plan

Our submission to the NHMRC and Australian Department of Health.

Draft National Healthcare Interoperability Plan

The National Healthcare Interoperability Plan is being developed by the Australian Digital Health Agency to map a pathway to a more connected Australian health system and to support the implementation of digitally enabled models of care. Read our submission.
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