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Our publications

Publications, reports & submissions

Scaling-up and future sustainability of a national reproductive genetic carrier screening program

Fehlberg Z, Best S, Long JC, Theodorou T, Pope C, Hibbert P, et al. NPJ Genomic Medicine. 2023.

Eliciting Societal Preferences for Non-Health Outcomes: A Person Trade-Off Study in the Context of Genomics

Sheen D, Peasgood T, Goranitis I. Clinical Therapeutics. 2023.

Genomic testing for suspected monogenic kidney disease in children and adults: a health economic evaluation

Wu Y, Jayasinghe K, Stark Z, Quinlan C, Patel C, McCarthy H, et al. Genetics in Medicine. 2023.

Genomics and inclusion of Indigenous peoples in high income countries

Gwynne K, Jiang S, Venema R, Christie V, Boughtwood T, Ritha M, et al. Human Genetics. 2023.

Aligning intuition and theory: a novel approach to identifying the determinants of behaviours necessary to support implementation of evidence into practice

Taylor N, McKay S, Long JC, Gaff C, North K, Braithwaite J, et al. Implementation Science. 2023.

What’s in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review

White S, Haas M, Laginha KJ, Laurendet K, Gaff C, Vears D, et al. Genetics in Medicine. 2023.

Quality of life in caregivers of a child with a developmental and epileptic encephalopathy

Robertson EG, Kelada L, Best S, Goranitis I, Pierce K; CoGENeS Group, et al. Developmental Medicine & Child Neurology. 2023.

Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia

Mordaunt DA, Dalziel K, Goranitis I, Stark Z. European Journal of Human Genetics. 2023.

Genomic newborn screening for rare diseases

Stark Z, Scott RH. Nature Reviews Genetics. 2023.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, et al. Nature Medicine. 2023.
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