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Published papers

Home Published papers

Micro-costing diagnostic genomic sequencing: a systematic review

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

March 16, 2023

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Innovative models of healthcare delivery: an umbrella review of...

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

February 23, 2023

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Standardizing variation: Scaling up clinical genomics in Australia

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

February 4, 2023

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Elusive variants in autosomal recessive disease: how can we...

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

February 3, 2023

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Protection of genomic data and the Australian Privacy Act:...

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

February 1, 2023

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Genomic autopsy to identify underlying causes of pregnancy loss...

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

January 19, 2023

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Australian public perspectives on genomic data storage and sharing:...

Lynch F, Meng Y, Best S, Goranitis I, Savulescu J, Gyngell C, et al. European...

January 18, 2023

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Balancing the safeguarding of privacy and data sharing: perceptions...

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

January 11, 2023

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Reporting clinically relevant genetic variants unrelated to genomic test...

Tudini E, Haas MA, Mattiske T, Spurdle AB. Journal of Medical Genetics. 2023.

January 6, 2023

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In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

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