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Our publications

Publications, reports & submissions

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

Bouffler SE, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, et al. BMJ Open. 2023.

Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing

Tiller J, Bakshi A, Dowling G, Keogh L, McInerney-Leo A, Barlow-Stewart K, et al. European Journal of Human Genetics. 2023.

Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations

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

Supporting healthcare professionals to offer reproductive genetic carrier screening: a behaviour change theory approach

Best S, Long JC, Fehlberg Z, Archibald AD, Braithwaite J. Australian Journal of Primary Health. 2023.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, et al. Human Molecular Genetics. 2023.

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.
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