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Journal articles
, 2023, 'Accelerated nanopore basecalling with SLOW5 data format', Bioinformatics, 39, http://dx.doi.org/10.1093/bioinformatics/btad352
, 2023, 'CAR+ and CAR- T cells differentiate into an NK-like subset that is associated with increased inflammatory cytokines following infusion', JOURNAL OF IMMUNOLOGY, 210, http://dx.doi.org/10.4049/jimmunol.210.Supp.159.15
, 2023, 'NOTCH2NLC GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia', Movement Disorders Clinical Practice, 10, pp. 704 - 706, http://dx.doi.org/10.1002/mdc3.13677
, 2023, 'Transcriptome and Genome Analysis Uncovers a DMD Structural Variant', Neurology Genetics, 9, http://dx.doi.org/10.1212/NXG.0000000000200064
, 2023, 'RFC1 in an Australasian neurological disease cohort: Extending the genetic heterogeneity and implications for diagnostics', Brain Communications, 5, http://dx.doi.org/10.1093/braincomms/fcad208
, 2022, 'Library adaptors with integrated reference controls improve the accuracy and reliability of nanopore sequencing', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-34028-8
, 2022, 'Ultra-deep sequencing data from a liquid biopsy proficiency study demonstrating analytic validity', Scientific Data, 9, http://dx.doi.org/10.1038/s41597-022-01276-8
, 2022, 'Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome', Genome Biology, 23, http://dx.doi.org/10.1186/s13059-021-02579-6
, 2022, 'Sex-specific transcriptomic and epitranscriptomic signatures of PTSD-like fear acquisition', Iscience, 25, http://dx.doi.org/10.1016/j.isci.2022.104861
, 2022, 'Persistent high-level shedding of cultivable SARS-CoV-2 Delta virus 33 days after onset of COVID-19 in a hospitalized patient with pneumonia', Journal of Medical Virology, 94, pp. 4043 - 4046, http://dx.doi.org/10.1002/jmv.27832
, 2022, 'A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics', Lancet, 400, pp. 691 - 692, http://dx.doi.org/10.1016/S0140-6736(22)01476-3
, 2022, 'The retroelement Lx9 puts a brake on the immune response to virus infection', Nature, 608, pp. 757 - 765, http://dx.doi.org/10.1038/s41586-022-05054-9
, 2022, 'Fast nanopore sequencing data analysis with SLOW5', Nature Biotechnology, 40, pp. 1026 - 1029, http://dx.doi.org/10.1038/s41587-021-01147-4
, 2022, 'Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy', Journal of the Peripheral Nervous System, 27, pp. 120 - 126, http://dx.doi.org/10.1111/jns.12485
, 2022, 'Truncated jarid2 and kdm6b transcripts are associated with temperature-induced sex reversal during development in a dragon lizard', Science Advances, 8, http://dx.doi.org/10.1126/sciadv.abk0275
, 2022, 'Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing', Science Advances, 8, http://dx.doi.org/10.1126/sciadv.abm5386
, 2022, 'InterARTIC: An interactive web application for whole-genome nanopore sequencing analysis of SARS-CoV-2 and other viruses', Bioinformatics, 38, pp. 1443 - 1446, http://dx.doi.org/10.1093/bioinformatics/btab846
, 2022, 'Assessment of Inter-Laboratory Differences in SARS-CoV-2 Consensus Genome Assemblies between Public Health Laboratories in Australia', Viruses, 14, http://dx.doi.org/10.3390/v14020185
, 2022, 'Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation', Proceedings of the National Academy of Sciences of the United States of America, 119, http://dx.doi.org/10.1073/pnas.2116475119
, 2021, 'An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics', Acta Neuropathologica Communications, 9, http://dx.doi.org/10.1186/s40478-021-01201-x
, 2021, 'Chimeric synthetic reference standards enable cross-validation of positive and negative controls in SARS-CoV-2 molecular tests', Scientific Reports, 11, http://dx.doi.org/10.1038/s41598-021-81760-0
, 2021, 'Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions', Genome Biology, 22, pp. 109, http://dx.doi.org/10.1186/s13059-021-02315-0
, 2021, 'Oncogenic cooperation between TCF7-SPI1 and NRAS(G12D) requires β-catenin activity to drive T-cell acute lymphoblastic leukemia', Nature Communications, 12, http://dx.doi.org/10.1038/s41467-021-24442-9
, 2021, 'Respiratory viral co-infections among SARS-CoV-2 cases confirmed by virome capture sequencing', Scientific Reports, 11, pp. 3934, http://dx.doi.org/10.1038/s41598-021-83642-x
, 2021, 'Advancing NGS quality control to enable measurement of actionable mutations in circulating tumor DNA', Cell Reports Methods, 1, http://dx.doi.org/10.1016/j.crmeth.2021.100106
, 2021, 'DNA methylation is required to maintain both DNA replication timing precision and 3D genome organization integrity', Cell Reports, 36, http://dx.doi.org/10.1016/j.celrep.2021.109722
, 2021, 'Tracking the international spread of SARS-CoV-2 lineages B.1.1.7 and B.1.351/501Y-V2 with grinch', Wellcome Open Research, 6, pp. 121 - 121, http://dx.doi.org/10.12688/wellcomeopenres.16661.2
, 2021, 'Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology', Nature Biotechnology, 39, pp. 1115 - 1128, http://dx.doi.org/10.1038/s41587-021-00857-z
, 2021, 'No evidence of human genome integration of SARS-CoV-2 found by long-read DNA sequencing', Cell Reports, 36, http://dx.doi.org/10.1016/j.celrep.2021.109530
, 2021, 'Two transcriptionally distinct pathways drive female development in a reptile with both genetic and temperature dependent sex determination', Plos Genetics, 17, http://dx.doi.org/10.1371/journal.pgen.1009465
, 2021, 'Tracking the international spread of SARS-CoV-2 lineages B.1.1.7 and B.1.351/501Y-V2', Wellcome Open Research, 6, http://dx.doi.org/10.12688/wellcomeopenres.16661.1
, 2020, 'A universal and independent synthetic DNA ladder for the quantitative measurement of genomic features', Nature Communications, 11, http://dx.doi.org/10.1038/s41467-020-17445-5
, 2020, 'Analytical validity of nanopore sequencing for rapid SARS-CoV-2 genome analysis', Nature Communications, 11, http://dx.doi.org/10.1038/s41467-020-20075-6
, 2020, 'Author Correction: Diagnosis of fusion genes using targeted RNA sequencing (Nature Communications, (2019), 10, 1, (1388), 10.1038/s41467-019-09374-9)', Nature Communications, 11, pp. 1810, http://dx.doi.org/10.1038/s41467-020-15697-9
, 2020, 'Genopo: a nanopore sequencing analysis toolkit for portable Android devices', Communications Biology, 3, http://dx.doi.org/10.1038/s42003-020-01270-z
, 2019, 'Chiral DNA sequences as commutable controls for clinical genomics', Nature Communications, 10, http://dx.doi.org/10.1038/s41467-019-09272-0
, 2019, 'Diagnosis of fusion genes using targeted RNA sequencing', Nature Communications, 10, pp. 1388, http://dx.doi.org/10.1038/s41467-019-09374-9
, 2019, 'Use of synthetic DNA spike-in controls (sequins) for human genome sequencing', Nature Protocols, 14, pp. 2119 - 2151, http://dx.doi.org/10.1038/s41596-019-0175-1
, 2018, 'Synthetic microbe communities provide internal reference standards for metagenome sequencing and analysis', Nature Communications, 9, http://dx.doi.org/10.1038/s41467-018-05555-0
, 2018, 'Universal Alternative Splicing of Noncoding Exons', Cell Systems, 6, pp. 245 - 255.e5, http://dx.doi.org/10.1016/j.cels.2017.12.005
, 2017, 'Reference standards for next-generation sequencing', Nature Reviews Genetics, 18, pp. 473 - 484, http://dx.doi.org/10.1038/nrg.2017.44
, 2017, 'Target RNA secondary structure is a major determinant of miR159 efficacy', Plant Physiology, 174, pp. 1764 - 1778, http://dx.doi.org/10.1104/pp.16.01898
, 2017, 'The Dimensions, Dynamics, and Relevance of the Mammalian Noncoding Transcriptome', Trends in Genetics, 33, pp. 464 - 478, http://dx.doi.org/10.1016/j.tig.2017.04.004
, 2017, 'ANAQUIN: A software toolkit for the analysis of spike-in controls for next generation sequencing', Bioinformatics, 33, pp. 1723 - 1724, http://dx.doi.org/10.1093/bioinformatics/btx038
, 2017, 'Differential intron retention in Jumonji chromatin modifier genes is implicated in reptile temperature-dependent sex determination', Science Advances, 3, pp. e1700731, http://dx.doi.org/10.1126/sciadv.1700731
, 2016, 'Representing genetic variation with synthetic DNA standards', Nature Methods, 13, pp. 784 - 791, http://dx.doi.org/10.1038/nmeth.3957
, 2016, 'Spliced synthetic genes as internal controls in RNA sequencing experiments', Nature Methods, 13, pp. 792 - 798, http://dx.doi.org/10.1038/nmeth.3958
, 2013, 'MicroRNAs with analogous target complementarities perform with highly variable efficacies in Arabidopsis', FEBS Letters, 587, pp. 3703 - 3708, http://dx.doi.org/10.1016/j.febslet.2013.09.037
, 2013, 'Expression of human ARGONAUTE 2 inhibits endogenous microRNA activity in Arabidopsis', Frontiers in Plant Science, 4, http://dx.doi.org/10.3389/fpls.2013.00096
Conference Papers
, 2025, 'YI5 Targeted nanopore long-read sequencing improves diagnosis of genetic myopathies', in Young Investigator Session Abstracts, BMJ Publishing Group Ltd, pp. A2.2 - A3, presented at ANZAN Annual Scientific Meeting 2025 Abstracts, http://dx.doi.org/10.1136/bmjno-2025-anzan.5