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Our publications

Publications, reports & submissions

Differential expression of MUC4, GPR110 and IL2RA defines two groups of CRLF2-rearranged acute lymphoblastic leukemia patients with distinct secondary lesions

Sadras T, Heatley SL, Kok CH, Dang P, Galbraith KM, McClure BJ, et al. Differential expression of MUC4, GPR110 and IL2RA defines two groups of CRLF2-rearranged acute lymphoblastic leukemia patients with distinct secondary lesions. Cancer letters. 2017. [Epub ahead of print]

A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH

Sadras T, Heatley SL, Kok CH, McClure BJ, Yeung D, Hughes TP, et al. A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH. Cancer Genetics. 2017. 216—217 : 86—90.

Sharing Clinical and Genomic Data on Cancer — The Need for Global Solutions

The Clinical Cancer Genome Task Team of the Global Alliance for Genomics Health. Sharing Clinical and Genomic Data on Cancer — The Need for Global Solutions. New England Journal of Medicine. 2017. 376 (21) : 2006-2009.

Genomics in healthcare: GA4GH looks to 2022

Birney E, Vamathevan J, Goodhand P. Genomics in healthcare: GA4GH looks to 2022. bioRxiv. 2017. *This article is a preprint and has not been peer-reviewed.

Genetics and Insurance in Australia: Concerns around a Self-Regulated Industry

Newson AJ, Tiller J, Keogh LA, Otlowski M, Lacaze P. Genetics and Insurance in Australia: Concerns around a Self-Regulated Industry. Public Health Genomics. 2017. [Epub ahead of print]

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Archibald AD, Smith MJ, Burgess T, Scarf KL, Elliott J, Hunt CE, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine. 2017. [Epub ahead of print]

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, et al. A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. European Journal of Human Genetics. 2017. 25 (11) : 1268-1272.

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.

Evaluation of computational programs to predict HLA genotypes from genomic sequencing data

Bauer D.C, Zadoorian A, Wilson L.O, Melbourne Genomics Health Alliance, Thorne N.P. Evaluation of computational programs to predict HLA genotypes from genomic sequencing data. Briefings in Bioinformatics. 2016. [Epub ahead of print]

The promise of personalised medicine

Doble B, Schofield D, Roscioli T, Mattick J. The promise of personalised medicine. The Lancet. 2016. 387 (10017) : 433—34.
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