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Our publications

Publications, reports & submissions

Legalising Mitochondrial Donation in Australia

The Australian Government has engaged experts and the public in consultation on the process of legalising mitochondrial donation in Australia. Read our submissions.

Parents’ experiences of decision making for rapid genomic sequencing in intensive care

Lynch F, Nisselle A, Stark Z, Gaff C, McClaren B. European Journal of Human Genetics. 2021.

Paediatric genomic testing: Navigating genomic reports for the general paediatrician

Margit Shah, Arthavan Selvanathan, Gareth Baynam, Yemima Berman, Tiffany Boughtwood, Mary-Louise Freckmann, et al. Journal of Paediatrics and Child Health. 2021.

Draft recommendations of the Primary Health Reform Steering Group

Submission on the Primary Health Reform draft recommendations.

Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system

Miranda E. Vidgen, Dayna Williamson, Katrina Cutler, Claire McCafferty, Robyn L. Ward, Keith McNeil, et al. npj Genomic Medicine. 2021.

HTA process solutions regarding genetic/genomic testing and treatment, HTAnalysis / InGeNA

The Industry Genomics Network Alliance (InGeNa) engaged HTAnalysts to assist in the development of a white paper on the Health Technology Assessment (HTA) process regarding genetic/genomic testing and treatment.  Tiffany Boughtwood participated in the targeted consultation on behalf of Australian Genomics to inform the development of this white paper, which aims to explore key issues…

Acquired JAK2 mutations confer resistance to JAK inhibitors in cell models of acute lymphoblastic leukemia

Charlotte E. J. Downes, Barbara J. McClure, John B. Bruning, Elyse Page, James Breen, Jacqueline Rehn, et al. NPJ Precision Oncology. 2021.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Jacob R. Stolz, Kendall M. Foote, Hermine E. Veenstra-Knol, Rolph Pfundt, Sanne W. ten Broeke, Nicole de Leeuw, Laura Roht, et al. The American Journal of Human Genetics. 2021.

Klotho inhibits neuronal senescence in human brain organoids

Mohammed R. Shaker, Julio Aguado, Harman Kaur Chaggar & Ernst J. Wolvetang.  npj Aging and Mechanisms of Disease. 2021.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, et al. The American Journal of Human Genetics. 2021.
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