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Our publications

Publications, reports & submissions

“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy

Robertson EG, Roberts NJ, Le Marne F, Beavis E, Macintosh R, Kelada L, et al. European Journal of Paediatric Neurology. 2023.

Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia

Vears DF, Lynch F, Nisselle A, Ayres S, Stark Z. European Journal of Human Genetics. 2023.

Response to Correspondence on “Genomic testing for suspected monogenic kidney disease in children and adults: a health economic evaluation” (Lombardi and Mesnard, 2023)

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

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Davidson A, Dressel U, Norris S, Canson D, Glubb D, Fortuno C, et al. Genome Medicine. 2023.

An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech

Lauretta ML, Jarmolowicz A, Amor DJ, Best S, Morgan AT. Journal of Speech, Language, and Hearing Research. 2023.

Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort

Haas M, Madelli E, Brown R, Prictor M, Boughtwood T. European Journal of Human Genetics. 2023.

MSAC Applications for Genetic, Genomic and Screening Tests

This log is a summary of the genetic, genomic and screening tests submitted to MSAC closed or currently in the pipeline of approval. The log is updated quarterly with details of each application including the current status, associated MBS item number/s, outcome, and involvement of Australian Genomics.

Equity, diversity, and inclusion at the Global Alliance for Genomics and Health

Skantharajah N, Baichoo S, Boughtwood T, Casas-Silva E, Chandrasekharan S, Dave S, et al. Cell Genomics. 2023.

Determining the utility of diagnostic genomics: a conceptual framework

Mallett A, Stark Z, Fehlberg Z, Best S, Goranitis I. Human Genomics. 2023.

The application of long-read sequencing in clinical settings

Oehler JB, Wright H, Stark Z, Mallett AJ, Schmitz U. Human Genomics. 2023.
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