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.
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.