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Our publications

Publications, reports & submissions

Considerations for the implementation of reproductive genetic carrier screening

Delatycki M, Kirk E, Laing N (August 2022).

Research priorities for Australian pharmacogenomics

Hughes S, Ward R, McLachlan A, et al. August 2022.

Polygenic Score Incubator Project Report

August 2022.

Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study

Grace Dowling, Jane Tiller, Aideen McInerney-Leo, Andrea Belcher, Casey Haining, Kristine Barlow-Stewart, et al. European Journal of Human Genetics. 2022.

Australian Genomics Research Snapshot: Dynamic Consent and the CTRL Platform

Haas M, for Australian Genomics (October 2019). Reviewed and updated June 2021.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

Ingrid E Scheffer, Caitlin A Bennett, Deepak Gill, Michelle G de Silva, Kirsten Boggs, Justine Marum, et al. Developmental Medicine & Child Neurology.

Australian Genomics Research Snapshot: Genomics in the community

Finlay K, for Australian Genomics (October 2019). Reviewed and updated June 2021.

Australian Genomics Research Snapshot: Shariant

Spurdle A, Tudini E, Brion M, King-Smith S, for Australian Genomics (October 2019). Reviewed and updated June 2021.

Australian Genomics Research Snapshot: PanelApp Australia

Stark Z, Hoffman O, for Australian Genomics (December 2019). Reviewed and updated June 2021.

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. Di Stefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, et al. Genetics in Medicine. 2022.
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