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Our publications

Publications, reports & submissions

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.

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Mallawaarachchi A.C, Hort Y, Cowley M.J, McCabe M.J, Minoche A, Dinger M.E, et al. Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. European Journal of Human Genetics. 2016. 24 (11) : 1584—1590.

A multidisciplinary renal genetics clinic improves patient diagnosis

Mallett, A., Fowles, L.F., McGaughran, J., Healy, H., & Patel, C. (2016). A multidisciplinary renal genetics clinic improves patient diagnosis. Med J Aust, 204(2), 58-59.

Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene

Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman A L, Holloway MR, et al. Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene. Leukemia. 2016. 30 (6) : 1402—5.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G. Lee MK, et al. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 2016. 127 (8) : 1017—23.

Apparent ‘JAK2-negative’ polycythaemia vera due to compound mutations in exon 14

Tiong IS, Casolari DA, Moore S, Nguyen T, Van Velzen MJ, Zantomio D, et al. Apparent ‘JAK2-negative’ polycythaemia vera due to compound mutations in exon 14. British Journal of Haematology. 2016. [Epub ahead of print]

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications

Gagliardi L, Burt MG, Feng J, Poplawski NK, Scott HS. Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications. Clinical Endocrinology. 2016. 85 (3) : 495—7.

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing

Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, et al. Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing. Human Mutation. 2016. 37 (9) : 955—63.

Targeted pharmacotherapy after somatic cancer mutation screening

Polasek TM, Ambler K, Scott HS, Sorich MJ, Kaub PA, Rowland A, et al. Targeted pharmacotherapy after somatic cancer mutation screening. F1000Research. 2016. 5 : 1551.
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