Laughing child leaning back on woman's knee

Our publications

Publications, reports & submissions

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ, Archibald A, et al. BMJ Open. 2024.

Aligning organisational priorities and implementation science for cancer research

Best S, Thursky K, Buzza M, Klaic M, Peters S, Guccione L, et al. BMC Health Services Research. 2024. 

Determining priority indicators of utility for genomic testing in rare disease: a Delphi study

Fehlberg Z, Goranitis I, Mallett AJ, Stark Z, Best S. Genetics in Medicine. 2024.

Priorities for Australian Gene-Related Therapies Research

Mattiske T, for Australian Genomics (February 2024).

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations

Kooshavar D, Amor D, Boggs K, Baker N, Barnett C, de Silva M, et al. Brain Communications. 2024.

Noninvasive pediatric blood pressure assessment: exploring the clinicians’ perspective

Stewart NP, Quinlan C, Best S, Mynard JP. Blood Pressure Monitoring. 2024.

Eliciting parental preferences and values for the return of additional findings from genomic sequencing

Goranitis I, Meng Y, Martyn M, Best S, Bouffler S, Bombard Y, et al. NPJ Genomic Medicine. 2024.

Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review

Pearce A, Mitchell LA, Best S, Young M, Terrill B. European Journal of Human Genetics. 2024.

The value of genomic testing in severe childhood speech disorders

Meng Y, Best S, Amor DJ, Braden R, Morgan AT, Goranitis I. European Journal of Human Genetics. 2024.

Role of CAMK2D in neurodevelopment and associated conditions

Rigter P, de Konink C, Dunn M, Proietti Onori M, Humberson J, Thomas M, et al. American Journal of Human Genetics. 2024.
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