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Our publications

Publications, reports & submissions

GA4GH 6th Plenary Meeting Report

Prepared by the Global Alliance for Genomics and Health. (2018)

Perspectives of Education Providers on Education & Training Needs of Non-Genomic Health Professionals

Janinski M, McClaren B, Nisselle A, Dunlop K, Prichard Z, Terrill T & Metcalfe S for the Australian Genomics Workforce & Education Working Group. (2018).

Genomic data & privacy law: a summary of a Health Legal report for Australian Genomics

Belcher A, Hass M, Grewal N & Newson A, for the Australian Genomics Evaluation, Policy and Ethics Program. (2018)

Professional Status Survey of Genetic Counsellors and Clinical Geneticists

Nisselle A, Macciocca I, Mackenzie F, Dunlop K, Metcalfe S & Gaff C, for the Australian Genomics Workforce & Education Working Group. (2018). For a copy of the report, please contact the Program team at education@australiangenomics.org.au

A landscape analysis: genomics in the community

Lewit-Mendes M, Pereira K, Dunlop K, Terril B, Boughtwood T and Genomics in the Community Contributors: Stark Z, Vines R, Cannings J, Porter S, Ludlow M, Renton H, for the Australian Genomics, Genomics in the community initiative. (2018)

Pre-B acute lymphoblastic leukaemia recurrent fusion, EP300-ZNF384, is associated with a distinct gene expression

McClure, B.J., Heatley, S.L., Kok, C.H., Sadras, T., An, J., Hughes, T.P., et al. (2018). Pre-B acute lymphoblastic leukaemia recurrent fusion, EP300-ZNF384, is associated with a distinct gene expression. Br J Cancer, 118(7), 1000—1004.

Mapping Existing Education & Training for the Australian Clinical Genomic Workforce

McClaren B, Nisselle A, Prichard Z, Dunlop K, Terrill B, Gaff C, Metcalfe S, for the Australian Genomics Workforce & Education Working Group (2018).

High prevalence of relapse in children with Philadelphia-like acute lymphoblastic leukemia despite risk-adapted treatment

Heatley SL, Sadras T, Kok CH, Nievergall E, Quek K, Dang P, et al. High prevalence of relapse in children with Philadelphia-like acute lymphoblastic leukemia despite risk-adapted treatment. Haematologica. 2017. 102 (12) : e490—e493.

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genetics in Medicine. 2017. [ePub ahead of print]

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman H A.F, Xiong B, Coe B.P, Wang T, Hoekzema K, Fenckova M, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics. 2017. [Epub ahead of print]
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