Select Publications
Journal articles
, 1991, 'Restrictions on ’multiple biochemical analyses’ profiling decreases usage of biochemistry test requests.', Pathology, 23, pp. 103 - 106
, 1990, 'An audit of oral glucose tolerance test requests', The Medical Journal of Australia, 152, pp. 607 - 608
, 1990, 'Randomised controlled trial of recombinant human interferon -alpha A for chronic active hepatitis B', Aust N Z J Med, 20, pp. 9 - 19
, 1986, 'Are specimens with "at risk" biochemical profiles more likely to be infectious for hepatitis B virus?', Clinical Chemistry, 32, pp. 1951 - 1953
, 1986, 'Development of a superior strategy for computer-assisted nucleotide sequence analysis', Nucleic acids research, 14, pp. 47 - 55
, 1986, 'Differential co-expression of alpha-actin genes within the human heart.', Journal of Molecular and Cellular Cardiology, 18, pp. 993 - 996
, 1986, 'False-positive results with hepatitis B virus DNA dot-hybridization in hepatitis B surface antigen-negative specimens', J Clin Microbiol, 23, pp. 797 - 799
, 1986, 'Laboratory tests in acute viral hepatitis', Clinical Biochemistry Reviews, 7, pp. 23 - 29
, 1986, 'Rapid method for the concentration of hepatitis B virus particles using Beckman airfuge', J Clin Pathol, 39, pp. 808 - 809
, 1986, 'Relationship between hepatitis B virus DNA in blood and serological markers of hepatitis B infection', The Medical Journal of Australia, 144, pp. 351 - 5
, 1986, 'Should nucleotide sequence analyzing computer algorithms always extend homologies by extending homologies?', Nucleic acids research, 14, pp. 425 - 430
, 1985, 'An exhaustive tree-searching algorithm for high-resolution computer-assisted nucleotide sequence analysis', Computer applications in the biosciences : CABIOS, 1, pp. 153 - 160
, 1985, 'Can potentially infectious specimens containing hepatitis B virus be identified on the basis of their biochemical profile?', Clinical Chemistry, 31, pp. 1329 - 1330
, 1985, 'Risk factors associated with Hepatitis B infection in antenatal patients', Aust N Z J Med, 15, pp. 641 - 644
, 1985, 'Significance of serum and hepatic markers of hepatitis B viral infection in HBsAg-positive and HBsAg-negative chronic active hepatitis', Hepatology, 5, pp. 50 - 53
, 1985, 'The risk for perinatal transmission of hepatitis B virus in an Australian obstetrics hospital', Aust N Z J Med, 15, pp. 641 - 644
, 1985, 'The SEQANAL and SEQTALK programs: a new method of access to high-resolution nucleotide sequence comparison and analysis programs from a remote laboratory mini- or microcomputer', Computer applications in the biosciences : CABIOS, 1, pp. 241 - 247
, 1984, 'Complementary relationship between repetitive sequences in the SV40 early gene pre-promoter enhancing region and big-T antigen splice junction exons', Journal of Theoretical Biology, 110, pp. 533 - 540
, 1984, 'Correlation between Hepatitis B Virus DNA and serological markers of hepatitis infection', Aust N Z J Med, 14, pp. 916 - 917 (Suppl)
, 1982, 'A model for the mechanism and control of eukaryote gene splicing.', Journal of Theoretical Biology, 97, pp. 351 - 366
, 1982, 'Complementary relationship between the SV40 pre-promoter region and the early gene splice junction exon sequences', Proc. 12th International Congress of Biochemistry
, 1980, 'A model for the mechanism of splice formation: RNA bridging sequences complementary to the splice junction can appose the RNA exons', Proceedings of the Australian Biochemical Soc, 13, pp. 84 - 84
, 1977, 'Initiation and termination of chromosome replication at 45 degree C in a temperature-sensitive deoxyribonucleic acid initiation mutant of Bacillus subtilis 168, TsB134', J Bacteriol, 130, pp. 538 - 539
Conference Papers
, 2017, 'Predicting the impact of expanded carrier screening on carrier detection rates and healthcare costs', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, DENMARK, Copenhagen, pp. 768 - 768, presented at 50th European-Society-of-Human-Genetics (ESHG) Conference, DENMARK, Copenhagen, 27 May 2017 - 30 May 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489312606275&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Conference Abstracts
, 2024, 'Patterns and presentations of mosaic variation in monogenic acquired errors of immunity', in CLINICAL IMMUNOLOGY, ACADEMIC PRESS INC ELSEVIER SCIENCE, MN, Minneapolis, Vol. 262, presented at North American Conference of the Clinical-Immunology-Society - Immune Deficiency and Dysregulation, MN, Minneapolis, 01 May 2024 - 04 May 2024, http://dx.doi.org/10.1016/j.clim.2024.110037
, 2024, 'Designing and optimising massively multiplex genetic tests for equitable, pan-ancestry reproductive carrier screening: The “Goldilocks” panel', in Clinica Chimica Acta, Elsevier BV, Vol. 558, pp. 119513 - 119513, http://dx.doi.org/10.1016/j.cca.2024.119513
, 2024, 'Novel tool for improving the quality of genetic pathology post-analytical reports', in Pathology, Elsevier BV, Vol. 56, pp. S96 - S96, http://dx.doi.org/10.1016/j.pathol.2023.12.324
, 2024, 'Novel tool for improving the quality of genetic pathology post-analytical reports', in Clinica Chimica Acta, Elsevier BV, Vol. 558, pp. 119527 - 119527, http://dx.doi.org/10.1016/j.cca.2024.119527
, 2024, 'P493: The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening', in Genetics in Medicine Open, Elsevier BV, Vol. 2, pp. 101392 - 101392, http://dx.doi.org/10.1016/j.gimo.2024.101392
, 2024, 'The ‘Goldilocks’ panel: determining the optimal number of genes to include for equitable, pan-ancestry carrier screening', in Pathology, Elsevier BV, Vol. 56, pp. S96 - S97, http://dx.doi.org/10.1016/j.pathol.2023.12.325
, 2023, 'The myth of the "Genetic Wallflower": in reproductive carrier screening, for every Papageno there is always a Papagena', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, SCOTLAND, Glasgow, Vol. 32, pp. 758 - 758, presented at 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), SCOTLAND, Glasgow, 10 June 2023 - 13 June 2023
, 2022, 'Efficacy of next generation sequencing data reanalysis in unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis', in GENETICS IN MEDICINE, ELSEVIER SCIENCE INC, TN, Nashville, Vol. 24, pp. S211 - S211, presented at ACMG Annual Clinical Genetics Meeting, TN, Nashville, 22 March 2022 - 26 March 2022, http://dx.doi.org/10.1016/j.gim.2022.01.373
, 2021, 'RE-ANALYSIS OF WHOLE GENOME SEQUENCING DATA IN PATIENTS WITH UNDIAGNOSED INBORN ERRORS OF IMMUNITY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 51, pp. 23 - 23, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713717300054&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2019, 'Man vs Machine: Implementing clinically validated automated variant prioritisation with diagnostic performance that equals human experts', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1079 - 1080, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313900083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2018, 'CLINICAL IMPACT OF WHOLE GENOME SEQUENCING ON THE DIAGNOSIS AND MANAGEMENT OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES - THE CLINICAL IMMUNOGENOMICS RESEARCH CONSORTIUM AUSTRALIA (CIRCA) EXPERIENCE', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 48, pp. 29 - 29, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000449673000079&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2018, 'Clinical utility of copy number variant (CNV) detection by whole genome sequencing (WGS)', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 502 - 502, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313104146&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2018, 'Utility of clinical Whole Genome Sequencing (WGS): diagnostic success factors now and into the future', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 542 - 542, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313104228&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2018, 'Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000427728400128&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Preprints
, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453