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Our publications

Publications, reports & submissions

The WHO genomics program of work for equitable implementation of human genomics for global health

Ambrosino E, Abou Tayoun AN, Abramowicz M, Zilfalil BA, Boughtwood T, Hamdi Y, et al. Nature Medicine. 2024.

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

Mallawaarachchi A, Biros E, Harris T, Bennetts B, Boughtwood T, Elliott J, et al. Human Genomics. 2024.

Involve Australia’s response to NHMRC Consumer Statement Review

Involve Australia believes that a Consumer Statement is valuable and a good first step in consumer and community involvement. The NHMRC now has an opportunity to take the next step forward to further support involvement and demonstrate their own commitment to this essential part of research. We also suggest the NHMRC make consumer and community…

A national education program for rapid genomics in pediatric acute care: building workforce confidence, competence and capability

McCorkell G, Nisselle A, Halton D, Bouffler SE, Patel C, Christodoulou J, et al. Genetics in Medicine. 2024.

Genomic Findings

Haas M, Newson A, Watts G, for Australian Genomics (March 2024).

Ensuring best practice in genomics education: A theory- and empirically informed evaluation framework

Nisselle A, Terrill B, Janinski M, Martyn M, Jordan H, Kaunein N, et al. American Journal of Human Genetics. 2024.

Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations

Nisselle A, Terrill B, Janinski M, Metcalfe S, Gaff C. American Journal of Human Genetics. 2024.

Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study

Mallawaarachchi AC, Fowles L, Wardrop L, Wood A, O’Shea R, Biros E, et al. Clinical Journal of the American Society of Nephrology. 2024.

Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework

Tutty E, Archibald AD, Downie L, Gaff C, Lunke S, Vears DF, et al. European Journal of Human Genetics. 2024.  

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

Baple EL, Scott RH, Banka S, Buchanan J, Fish L, Wynn S, et al. Nature Medicine. 2024.
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