Select Publications
Book Chapters
2018, 'Selection of antibody fragments against structured DNA by phage display', in Methods in Molecular Biology, pp. 197 - 209, http://dx.doi.org/10.1007/978-1-4939-8648-4_11
,Journal articles
2024, 'Abstract B015: RNA N6-methyladenosine (m6A) as a therapeutic target in Diffuse Midline Glioma (DMG)', Cancer Research, 84, pp. B015 - B015, http://dx.doi.org/10.1158/1538-7445.brain23-b015
,2023, 'Protocol for the production and purification of an i-Motif-specific nanobody', STAR Protocols, 4, http://dx.doi.org/10.1016/j.xpro.2023.102729
,2023, 'Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications', Genome Biology, 24, http://dx.doi.org/10.1186/s13059-023-02936-7
,2023, 'Term-BLAST-like alignment tool for concept recognition in noisy clinical texts', Bioinformatics, 39, http://dx.doi.org/10.1093/bioinformatics/btad716
,2023, 'Evolutionary conservation of embryonic DNA methylome remodelling in distantly related teleost species', Nucleic Acids Research, 51, pp. 9658 - 9671, http://dx.doi.org/10.1093/nar/gkad695
,2023, 'Long non-coding RNAs: definitions, functions, challenges and recommendations', Nature Reviews Molecular Cell Biology, 24, pp. 430 - 447, http://dx.doi.org/10.1038/s41580-022-00566-8
,2023, 'Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare', American Journal of Human Genetics, 110, pp. 419 - 426, http://dx.doi.org/10.1016/j.ajhg.2023.01.018
,2022, 'Interaction between non-coding RNAs, mRNAs and G-quadruplexes', Cancer Cell International, 22, http://dx.doi.org/10.1186/s12935-022-02601-2
,2022, 'Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation', American Journal of Human Genetics, 109, pp. 1960 - 1973, http://dx.doi.org/10.1016/j.ajhg.2022.10.006
,2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, 30, pp. 1121 - 1131, http://dx.doi.org/10.1038/s41431-022-01162-2
,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, 'Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis', Neurology, 99, pp. E730 - E742, http://dx.doi.org/10.1212/WNL.0000000000200745
,2022, 'Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies', International Journal of Molecular Sciences, 23, http://dx.doi.org/10.3390/ijms23073905
,2022, 'HLA alleles and haplotype frequencies in Iranian population', Human Antibodies, 30, pp. 79 - 96, http://dx.doi.org/10.3233/HAB-220004
,2022, 'The role of miRNAs and lncRNAs in conferring resistance to doxorubicin', Journal of Drug Targeting, 30, pp. 1 - 21, http://dx.doi.org/10.1080/1061186X.2021.1909052
,2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, 13, pp. 32, http://dx.doi.org/10.1186/s13073-021-00841-x
,2021, 'LncRNAs and miRNAs participate in determination of sensitivity of cancer cells to cisplatin', Experimental and Molecular Pathology, 123, http://dx.doi.org/10.1016/j.yexmp.2021.104602
,2021, 'Emerging role of circular RNAs in the pathobiology of lung cancer', Biomedicine and Pharmacotherapy, 141, http://dx.doi.org/10.1016/j.biopha.2021.111805
,2021, 'Genome sequencing in congenital cataracts improves diagnostic yield', Human Mutation, 42, pp. 1173 - 1183, http://dx.doi.org/10.1002/humu.24240
,2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207
,2021, 'A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol', Methods and Protocols, 4, pp. 42, http://dx.doi.org/10.3390/mps4020042
,2021, 'Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing', European Journal of Human Genetics, 29, pp. 760 - 770, http://dx.doi.org/10.1038/s41431-020-00796-4
,2021, 'Identification of miRNA-mRNA Network in Autism Spectrum Disorder Using a Bioinformatics Method', Journal of Molecular Neuroscience, 71, pp. 761 - 766, http://dx.doi.org/10.1007/s12031-020-01695-5
,2021, 'Non-coding RNAs modulate function of extracellular matrix proteins', Biomedicine and Pharmacotherapy, 136, http://dx.doi.org/10.1016/j.biopha.2021.111240
,2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655
,2021, 'Destination Amyotrophic Lateral Sclerosis', Frontiers in Neurology, 12, pp. 596006, http://dx.doi.org/10.3389/fneur.2021.596006
,2021, 'The Impact of Non-coding RNAs in the Epithelial to Mesenchymal Transition', Frontiers in Molecular Biosciences, 8, pp. 665199, http://dx.doi.org/10.3389/fmolb.2021.665199
,2021, 'Emerging role of non-coding RNAs in response of cancer cells to radiotherapy', Pathology Research and Practice, 218, http://dx.doi.org/10.1016/j.prp.2020.153327
,2020, 'Dysregulation of non-coding RNAs in autoimmune thyroid disease', Experimental and Molecular Pathology, 117, http://dx.doi.org/10.1016/j.yexmp.2020.104527
,2020, 'The critical roles of lncRNAs in the pathogenesis of melanoma', Experimental and Molecular Pathology, 117, http://dx.doi.org/10.1016/j.yexmp.2020.104558
,2020, 'The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly', Nature Communications, 11, pp. 435, http://dx.doi.org/10.1038/s41467-019-14079-0
,2020, 'Dysregulation of non-coding RNAs in Rheumatoid arthritis', Biomedicine and Pharmacotherapy, 130, http://dx.doi.org/10.1016/j.biopha.2020.110617
,2020, 'Revealing hidden genetic diagnoses in the ocular anterior segment disorders', Genetics in Medicine, 22, pp. 1623 - 1632, http://dx.doi.org/10.1038/s41436-020-0854-x
,2020, 'Emerging roles of non-coding RNAs in the pathogenesis of type 1 diabetes mellitus', Biomedicine and Pharmacotherapy, 129, http://dx.doi.org/10.1016/j.biopha.2020.110509
,2020, 'Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data', American Journal of Human Genetics, 107, pp. 175 - 182, http://dx.doi.org/10.1016/j.ajhg.2020.06.005
,2020, 'Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia', Leukemia, 34, pp. 2051 - 2063, http://dx.doi.org/10.1038/s41375-020-0751-y
,2020, 'Perspectives on the role of non-coding rnas in the regulation of expression and function of the estrogen receptor', Cancers, 12, pp. 1 - 26, http://dx.doi.org/10.3390/cancers12082162
,2020, 'Exploring the role of non-coding rnas in the pathophysiology of systemic lupus erythematosus', Biomolecules, 10, pp. 1 - 22, http://dx.doi.org/10.3390/biom10060937
,2020, 'Overcoming challenges and dogmas to understand the functions of pseudogenes', Nature Reviews Genetics, 21, pp. 191 - 201, http://dx.doi.org/10.1038/s41576-019-0196-1
,2020, 'Non-coding RNAs underlie genetic predisposition to breast cancer', Genome Biology, 21, pp. 7, http://dx.doi.org/10.1186/s13059-019-1876-z
,2020, 'Mutations in the exocyst component EXOC2 cause severe defects in human brain development', Journal of Experimental Medicine, 217, pp. e20192040, http://dx.doi.org/10.1084/JEM.20192040
,2019, 'The long noncoding RNA lncNB1 promotes tumorigenesis by interacting with ribosomal protein RPL35', Nature Communications, 10, pp. 5026, http://dx.doi.org/10.1038/s41467-019-12971-3
,2019, 'Development and validation of a targeted gene sequencing panel for application to disparate cancers', Scientific Reports, 9, pp. 17052, http://dx.doi.org/10.1038/s41598-019-52000-3
,2019, 'Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care', European Journal of Human Genetics, 27, pp. 1493 - 1501, http://dx.doi.org/10.1038/s41431-019-0429-y
,2019, 'Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity', Nature Immunology, 20, pp. 1299 - 1310, http://dx.doi.org/10.1038/s41590-019-0492-0
,2019, 'Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications', Journal of Medical Genetics, 56, pp. 629 - 638, http://dx.doi.org/10.1136/jmedgenet-2019-106019
,2019, 'Index suffix-prefix overlaps by (w, k)-minimizer to generate long contigs for reads compression', Bioinformatics, 35, pp. 2066 - 2074, http://dx.doi.org/10.1093/bioinformatics/bty936
,2019, 'Lipid uptake is an androgen-enhanced lipid supply pathway associated with prostate cancer disease progression and bone metastasis', Molecular Cancer Research, 17, pp. 1166 - 1179, http://dx.doi.org/10.1158/1541-7786.MCR-18-1147
,2019, 'Preparing Australia for genomic medicine: data, computing and digital health', Medical Journal of Australia, 210, pp. S30 - S32, http://dx.doi.org/10.5694/mja2.50032
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