Preparing Australia for genomic medicine: data, computing and digital health
Hansen D P, Dinger ME, Hofmann O, Thorne N, Boughtwood TF. Preparing Australia for genomic medicine: data, computing and digital health. The Medical Journal of Australia. 2019. [Epub ahead of print] : S30-s32.

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
Mallett AJ, McCarthy HJ, Ho G, Holman K, Farnsworth E, Patel C, et al. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International. 2017. [In press]

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, et al.. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA pediatrics. 2017. [ePub ahead of print]

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, et al. Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Annals of clinical and translational neurology. 2017. 4 (5) : 318—325.

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
Perucca, P, Scheffer IE, Harvey S, James P, Lunke S, Thorne N, et al. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. Epilepsy Research. 2017. 131 : 1—8.

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