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Our publications

Publications, reports & submissions

Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges

Arkell K, Gyngell C, Stark Z, Vears DF. Children (Basel). 2023.

Co-designing interventions to ‘live well’: experiences and perceptions of the Genetic, Undiagnosed and Rare Disease (GUaRD) community

Beadell I, Byun M, Feller H, Ferrie M, Best S. Journal of Community Genetics. 2023.

Micro-costing diagnostic genomic sequencing: a systematic review

Gonzalez FS, Mordaunt D, Stark Z, Dalziel K, Christodoulou J, Goranitis I. Genetics in Medicine. 2023.

Innovative models of healthcare delivery: an umbrella review of reviews

Roberts N, Carrigan A, Clay-Williams R, Hibbert PD, Mahmoud Z, Pomare C, et al. BMJ Open. 2023.

Standardizing variation: Scaling up clinical genomics in Australia

Best S, Long JC, Braithwaite J, Taylor N. Genetics in Medicine. 2023.

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Horton AE, Lunke S, Sadedin S, Fennell AP, Stark Z. European Journal of Human Genetics. 2023.

Protection of genomic data and the Australian Privacy Act: when are genomic data ‘personal information’?

Minna Paltiel, Mark Taylor, Ainsley Newson. International Data Privacy Law. 2023.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Byrne A.B, Arts P, Ha T.T, Kassahn K, Pais L, et al. Nature Medicine. 2023.

Australian public perspectives on genomic data storage and sharing: Benefits, concerns and access preferences

Lynch F, Meng Y, Best S, Goranitis I, Savulescu J, Gyngell C, et al. European Journal of Medical Genetics. 2023.

Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia

Malakar Y, Lacey J, Twine N.A, McCrea R, Bauer D. European Journal of Human Genetics. 2023.
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