ORCID as entered in ROS
https://orcid.org/0000-0003-4423-934X
Select Publications
Conference Papers
, 2014, 'Implementing a clinical genomics infrastructure to sequence 18,000 human genomes per year', in CEUR Workshop Proceedings, pp. 26 - 27
, 2013, 'Linc367, a novel long intergenic noncoding RNA, up-regulates N-Myc gene expression and neuroblastoma cell proliferation', in EUROPEAN JOURNAL OF CANCER, ELSEVIER SCI LTD, NETHERLANDS, Amsterdam, pp. S356 - S356, presented at
, 2013, 'Molecular function of the long noncoding RNA SPRY4-IT1 in human melanomas', in FEBS JOURNAL, WILEY-BLACKWELL, RUSSIA, Saint Petersburg, pp. 302 - 303, presented at
, 2013, 'Abstract 1914: Molecular function of the long noncoding RNA SPRY4-IT1 in human melanomas.', in Cancer Research, American Association for Cancer Research (AACR), pp. 1914 - 1914, http://dx.doi.org/10.1158/1538-7445.am2013-1914
, 2012, 'Neural stem cells sort protein and RNA cargoes for export with exosomes in response to inflammation', in JOURNAL OF NEUROIMMUNOLOGY, ELSEVIER SCIENCE BV, MA, Boston, pp. 127 - 127, presented at
, 2012, 'Identifying the Genes Associated with Endometriosis Risk on Chromosomes 1 and 7', in REPRODUCTIVE SCIENCES, SAGE PUBLICATIONS INC, pp. 141A - 141A, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000329543601234&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2011, 'The melanoma-upregulated long noncoding RNA SPRY4-IN1 modulates apoptosis and invasion', in FEBS JOURNAL, WILEY-BLACKWELL, ITALY, Torino, pp. 88 - 88, presented at
, 2009, 'LONG NONCODING RNAs: INSIGHTS INTO FUNCTION', in CELLULAR ONCOLOGY, IOS PRESS, SCOTLAND, Edinburgh, pp. 97 - 98, presented at
, 2009, 'REGULATED INDEPENDENT EXPRESSION OF 3 ' UNTRANSLATED REGIONS IN MAMMALS', in CELLULAR ONCOLOGY, IOS PRESS, SCOTLAND, Edinburgh, pp. 112 - 112, presented at
, 2007, 'The human genome as an RNA machine', in FEBS JOURNAL, BLACKWELL PUBLISHING, AUSTRIA, Vienna, pp. 15 - 15, presented at
, 2005, 'Freshman Fifteen: Fact or fiction?', in OBESITY RESEARCH, NORTH AMER ASSOC STUDY OBESITY, CANADA, Vancouver, pp. A66 - A66, presented at
, 2003, 'Dimerization of NPY-receptors studied by fluorescence resonance energy trans-fer in living cells', in BIOPOLYMERS, JOHN WILEY & SONS INC, MASSACHUSETTS, BOSTON, pp. 385 - 385, presented at
, 2003, 'Dimerization of NPY-receptors studied by fluorescence resonance energy trans-fer in living cells', in BIOPOLYMERS, JOHN WILEY & SONS INC, MASSACHUSETTS, BOSTON, pp. 294 - 295, presented at
, 2001, 'Proteases to increase the usability of coarse wool fibers by softening and shrinkproofing.', in ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, AMER CHEMICAL SOC, pp. U183 - U183, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000168824700899&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Conference Posters
, 2022, 'Abstract 6298: The novel long noncoding RNA lncNeur promotes neuroblastoma by up-regulating AURKA and Myc expression', Vol. 82, pp. 6298 - 6298, http://dx.doi.org/10.1158/1538-7445.am2022-6298
, 2015, 'MENDELIAN ERRORS ASSIST IN CALLING COPY NUMBER VARIATION FROM GENOMIC SEQUENCING DATA: AN ILLUSTRATIVE CASE OF HETEROZYGOUS FAS DELETION', Vol. 45, pp. 21 - 21, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360834700069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Conference Presentations
, 2017, 'The Medical Genome Reference Bank – Deep genomics of a disease-depleted, elderly Australian population', presented at ComBio2017, Adelaide, -
, 2015, 'Next generation sequencing: towards a new clinical frontier in the diagnosis and treatment of pituitary tumours', presented at European Society of Paediactric Endocrinology, Barcelona, 01 February 2015 - 01 February 2015
, 2015, 'Loss-of-function germline FGFR1 mutation identified in a patient with prolactinoma', presented at Endocrine Society of Australia, Annual Scientific Meeting, Adelaide, 01 January 2015 - 01 January 2015
Conference Abstracts
, 2022, 'Comprehensive characterization of early-onset skeletal muscle disease gene exon usage and splicing patterns across different developmental ages', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, Vol. 32, pp. S47 - S47, http://dx.doi.org/10.1016/j.nmd.2022.07.027
, 2021, 'A pathway to precision medicine for Aboriginal Australians: a study protocol', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, Vol. 132, pp. S331 - S332, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000639219800503&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, http://dx.doi.org/10.26190/unsworks/27545
, 2018, 'Are There Genetic Variants to Explain the Phenomenon of Donor Cell Survival Following Blood Transfusion?', in TRANSFUSION, WILEY, MA, Boston, Vol. 58, pp. 146A - 146A, presented at AABB Annual Meeting, MA, Boston, 13 October 2018 - 16 October 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000444475900339&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, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 213 - 214, 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
, 2018, 'The Genomic Autopsy Study: using genomics as an adjunct to standard autopsy to unlock the cause of complex fetal and neonatal presentations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 832 - 833, 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:000489313106169&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 improves genetic testing outcomes in hypertrophic cardiomyopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 843 - 844, 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:000489313106185&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2018, 'Whole genome - and targeted capture - sequencing analysis of dual lung metastases and circulating tumour DNA (ctDNA) in a rare Primary Adrenocortical Carcinoma (ACC) case', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000427728400112&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
, 2016, 'Regulation of immune response genes by endogenous retroviruses', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 69 - 69, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400138&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2016, 'Establishment of the Southern Hemisphere's First Clinically Accredited Whole Genome Sequencing Facility, and the Development of a Gene Sequencing Panel for Application to Disparate Cancer Types Including Pituitary', in HORMONE RESEARCH IN PAEDIATRICS, KARGER, Vol. 86, pp. 35 - 35, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388504100071&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2015, 'Eradication of neuroblastoma by suppressing the expression of a single long noncoding RNA', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, MA, Boston, Vol. 76, presented at AACR Special Conference on Noncoding RNAs and Cancer - Mechanisms to Medicines, MA, Boston, 04 December 2015 - 07 December 2015, http://dx.doi.org/10.1158/1538-7445.NONRNA15-B13
, 2015, 'The long noncoding RNA SPRIGHTLY regulates cell proliferation in primary human melanocytes', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, MA, Boston, Vol. 76, presented at AACR Special Conference on Noncoding RNAs and Cancer - Mechanisms to Medicines, MA, Boston, 04 December 2015 - 07 December 2015, http://dx.doi.org/10.1158/1538-7445.NONRNA15-A09
, 2015, 'The long noncoding RNA MALAT1 promotes hypoxia-driven angiogenesis by upregulating pro-angiogenic gene expression in neuroblastoma cells', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, PA, Philadelphia, Vol. 75, presented at 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR), PA, Philadelphia, 18 April 2015 - 22 April 2015, http://dx.doi.org/10.1158/1538-7445.AM2015-146
, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, Vol. 34, pp. S499 - S500, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2014, 'A SUCCESSFUL APPLICATION OF NEXT GENERATION SEQUENCING TO THE DIAGNOSIS OF ADAPTIVE PRIMARY IMMUNODEFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, Vol. 44, pp. 10 - 10, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000342722800033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Preprints
, 2024, Chromatin remodeling with combined FACT and BET inhibition disrupts oncogenic transcription in Diffuse Midline Glioma, http://dx.doi.org/10.1101/2024.06.06.597703
, 2024, Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes, http://dx.doi.org/10.1101/2024.04.01.587517
, 2024, Multifaceted Representation of Genes via Deep Learning of Gene Expression Networks, http://dx.doi.org/10.1101/2024.03.07.583777
, 2023, Evolutionary conservation of embryonic DNA methylome remodelling in distantly related teleost species, http://dx.doi.org/10.1101/2023.05.24.542066
, 2022, Environmental and genetic disease modifiers of haploinsufficiency of A20, http://dx.doi.org/10.1101/2022.03.19.485004
, 2022, Human genomic DNA is widely interspersed with i-motif structures, http://dx.doi.org/10.1101/2022.04.14.488274
, 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
, 2018, The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design, http://dx.doi.org/10.1101/274019
, 2017, Universal alternative splicing of noncoding exons, http://dx.doi.org/10.1101/136275
, 2016, Machine-learning annotation of human splicing branchpoints, http://dx.doi.org/10.1101/094003
, 2016, RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers, http://dx.doi.org/10.7287/peerj.preprints.2331
, 2016, RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers, http://dx.doi.org/10.7287/peerj.preprints.2331v1
Other
, 2023, Data from Lipid Uptake Is an Androgen-Enhanced Lipid Supply Pathway Associated with Prostate Cancer Disease Progression and Bone Metastasis, http://dx.doi.org/10.1158/1541-7786.c.6540525.v1
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https://orcid.org/0000-0003-4423-934X