Select Publications
Journal articles
, 2017, 'Cutting edge genomics reveal new insights into tumour development, disease progression and therapeutic impacts in multiple myeloma', British Journal of Haematology, 178, pp. 196 - 208, http://dx.doi.org/10.1111/bjh.14649
, 2017, 'Decreased male reproductive success in association with mitochondrial dysfunction', European Journal of Human Genetics, 25, pp. 1162 - 1164, http://dx.doi.org/10.1038/ejhg.2017.114
, 2016, 'Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA−/− mice', Scientific Reports, 6, pp. 31907, http://dx.doi.org/10.1038/srep31907
, 2016, 'Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults', European Heart Journal, 37, pp. 2552 - 2559, http://dx.doi.org/10.1093/eurheartj/ehv306
, 2016, 'Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis', Nucleic Acids Research, 44, pp. 5313 - 5329, http://dx.doi.org/10.1093/nar/gkw382
, 2016, 'Chronic Gastrointestinal Dysmotility in Adult m.3243A>G-Related Mitochondrial Disease: An Under-Recognised and Under-Treated Clinical Entity (P5.262)', Neurology, 86, http://dx.doi.org/10.1212/wnl.86.16_supplement.p5.262
, 2016, 'Dysferlin mutations and mitochondrial dysfunction', Neuromuscular Disorders, 26, pp. 782 - 788, http://dx.doi.org/10.1016/j.nmd.2016.08.008
, 2016, 'Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease', Neuropathology and Applied Neurobiology, 42, pp. 477 - 492, http://dx.doi.org/10.1111/nan.12282
, 2016, 'Mitochondrial dysfunction in myofibrillar myopathy', Neuromuscular Disorders, 26, pp. 691 - 701, http://dx.doi.org/10.1016/j.nmd.2016.08.004
, 2016, 'N. Z. Lax et al.', Neuropathology and Applied Neurobiology, 42, pp. 180 - 193, http://dx.doi.org/10.1111/nan.12238
, 2016, 'Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination', Annals of Neurology, 80, pp. 686 - 692, http://dx.doi.org/10.1002/ana.24736
, 2015, 'A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis', Scientific Reports, 5, pp. 15037, http://dx.doi.org/10.1038/srep15037
, 2015, 'Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells', Scientific Reports, 5, pp. 9906, http://dx.doi.org/10.1038/srep09906
, 2015, 'Phenotypes and Genotypes of Mitochondrial Disease- Findings from A National Mitochondrial Disease Cohort (P2.061)', Neurology, 84, http://dx.doi.org/10.1212/wnl.84.14_supplement.p2.061
, 2015, 'Mitochondrial Donation — How Many Women Could Benefit?', The New England Journal of Medicine, 372, pp. 885 - 887, http://dx.doi.org/10.1056/nejmc1500960
, 2015, 'Mitochondrial and inflammatory changes in sporadic inclusion body myositis', Neuropathology and Applied Neurobiology, 41, pp. 288 - 303, http://dx.doi.org/10.1111/nan.12149
, 2015, 'Mitochondrial dysfunction: A key player in myofibrillar myopathy?', Neuromuscular Disorders, 25, pp. S257 - S257, http://dx.doi.org/10.1016/j.nmd.2015.06.260
, 2015, 'The prevalence of mitochondrial disease in the adult population', Mitochondrion, 24, pp. S16 - S17, http://dx.doi.org/10.1016/j.mito.2015.07.051
, 2014, 'Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle', PLOS ONE, 9, pp. e114462, http://dx.doi.org/10.1371/journal.pone.0114462
, 2014, 'Disease progression in patients with single, large-scale mitochondrial DNA deletions', Brain, 137, pp. 323 - 334, http://dx.doi.org/10.1093/brain/awt321
, 2014, 'P27 Sudden unexpected death in adults with m.3243A>G mutation', Neuromuscular Disorders, 24, pp. S14 - S14, http://dx.doi.org/10.1016/s0960-8966(14)70043-4
, 2014, 'Respiratory chain deficiency in aged spinal motor neurons', Neurobiology of Aging, 35, pp. 2230 - 2238, http://dx.doi.org/10.1016/j.neurobiolaging.2014.02.027
, 2012, 'Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations', Plos Genetics, 8, http://dx.doi.org/10.1371/journal.pgen.1003082
, 2012, 'Spatial frequency bandwidth of surround suppression tuning curves', Journal of Vision, 12, pp. 24 - 24, http://dx.doi.org/10.1167/12.6.24
, 2011, 'Spatial frequency bandwidth of surround suppression', Journal of Vision, 11, pp. 1177 - 1177, http://dx.doi.org/10.1167/11.11.1177
, 2011, 'Age-dependent Homeostatic Plasticity of GABAergic Signaling in Developing Retinal Networks', Journal of Neuroscience, 31, pp. 12159 - 12164, http://dx.doi.org/10.1523/jneurosci.3112-11.2011
Conference Papers
, 2025, 'ASPiRATION. Australian Nationwide Cohort Study to Assess Impact of Comprehensive Genomic Profiling in Metastatic Lung Cancer', in JOURNAL OF THORACIC ONCOLOGY, ELSEVIER SCIENCE INC
, 2025, 'KRAS Mutations in Australian Gastrointestinal Cancer Patients: An Analysis of the Molecular Screening and Therapeutics (MoST) Program', in ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, WILEY
, 2024, 'Prevalence and co-mutation status of MTAP deletions', in ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, WILEY, pp. 116 - 116
Conference Abstracts
, 2025, 'PATH-52. Understanding the prevalence ofMTAP andCDKN2A/B deletion in gliomas by next generation sequencing', in Neuro-Oncology, Oxford University Press (OUP), Vol. 27, pp. v252 - v252, http://dx.doi.org/10.1093/neuonc/noaf201.1004
, 2025, '973P Phase II trial of Vismodegib in advanced cancers with Hedgehog pathway alterations', in Annals of Oncology, Elsevier, Vol. 36, pp. s637, http://dx.doi.org/10.1016/j.annonc.2025.08.1542
, 2024, 'Translating potential germline findings from tumour profiling into routine clinical care.', in Journal of Clinical Oncology, American Society of Clinical Oncology (ASCO), Vol. 42, pp. 105 - 105, http://dx.doi.org/10.1200/jco.2024.42.23_suppl.105
, 2024, 'Impact of artificial intelligence (AI) decision support on clinical trial participation: A before-after implementation study on a nationwide molecular tumor board.', in Journal of Clinical Oncology, Vol. 42, pp. 1557 - 1557, http://dx.doi.org/10.1200/JCO.2024.42.16_suppl.1557
, 2024, 'Impact of artificial intelligence (AI) decision support on clinical trial participation: A before-after implementation study on a nationwide molecular tumor board', in Journal of Clinical Oncology, American Society of Clinical Oncology, Vol. 42, presented at 2024 ASCO Annual Meeting I, 29 May 2024 - 29 May 2024, http://dx.doi.org/10.1200/JCO.2024.42.16_suppl.1557
, 2023, 'Genomic alterations associated with response to immune checkpoint inhibitors in rare cancers: A biomarker exploration study from the Australian Molecular Screening and Therapeutics (MoST) Program', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, IL, Chicago, Vol. 41, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 02 June 2023 - 06 June 2023
, 2023, 'Genomic targetability and survival outcomes of biliary tract cancers (BTC): A retrospective cohort study of the Australian Molecular Screening and Therapeutics (MoST) program', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, IL, Chicago, Vol. 41, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 02 June 2023 - 06 June 2023
, 2023, 'Genomic therapy matching in rare and refractory cancers: Updated results from a retrospective cohort study in the Molecular Screening and Therapeutic (MoST) program', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, IL, Chicago, Vol. 41, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 02 June 2023 - 06 June 2023
, 2023, 'Trastuzumab emtansine (T-DM1) in advanced cancers with HER2 mutations or amplification: Results from the Molecular Screening and Therapeutics (MoST) Program substudy.', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, IL, Chicago, Vol. 41, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 02 June 2023 - 06 June 2023
, 2022, 'Molecular therapy selection in treatment-refractory advanced cancers: A retrospective cohort study determining the utility of TOPOGRAPH knowledge base.', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, ELECTR NETWORK, Vol. 40, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), ELECTR NETWORK, 03 June 2022 - 07 June 2022
, 2022, 'Molecular therapy selection in treatment-refractory advanced cancers: A retrospective cohort study determining the utility of TOPOGRAPH knowledge base.', in Journal of Clinical Oncology, American Society of Clinical Oncology (ASCO), Vol. 40, pp. 3073 - 3073, http://dx.doi.org/10.1200/jco.2022.40.16_suppl.3073
, 2021, 'CRESTONE: Clinical Study of REsponse to Seribantumab in Tumours with NEuregulin-1 (NRG1) Fusions: A phase 2 study of the anti-HER3 monoclonal antibody for advanced or metastatic solid tumours (MoST CRESTONE in Australia)', in ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, WILEY, Vol. 17, pp. 206 - 206, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000717281500346&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2021, 'Molecular patterns in salivary duct carcinoma identify prognostic subgroups', in Oral Oncology, Elsevier, Vol. 118, pp. 4, http://dx.doi.org/10.1016/s1368-8375(21)00268-2
, 2020, 'A signal-seeking trial of olaparib and durvalumab in homologous repair-deficient tumors: A sub-study of the cancer molecular screening and therapeutics (MoST) program.', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, ELECTR NETWORK, Vol. 38, presented at Annual Scientific Meeting of the American-Society-of-Clinical-Oncology (ASCO), ELECTR NETWORK, 29 May 2020 - 02 June 2020
, 2019, 'The Cancer Molecular Screening and Therapeutics Program (MoST): Actionable mutation frequencies in a population with rare and less common cancers.', in Journal of Clinical Oncology, American Society of Clinical Oncology (ASCO), Vol. 37, pp. 3136 - 3136, http://dx.doi.org/10.1200/jco.2019.37.15_suppl.3136
, 2018, 'The cancer molecular screening and therapeutics program (MoST): A molecular screening platform with multiple, parallel, signal-seeking therapeutic substudies', in Annals of oncology : official journal of the European Society for Medical Oncology, Vol. 29, pp. viii147, http://dx.doi.org/10.1093/annonc/mdy279.434
Preprints
, 2025, A Robust BERT-Based Deep Learning Model for Automated Cancer Type Extraction from Unstructured Pathology Reports, http://dx.doi.org/10.48550/arxiv.2508.15149
, A signal-seeking Phase II trial of Durvalumab and Tremelimumab Focused on Advanced, Rare and Less Common Cancers, http://dx.doi.org/10.1101/2022.06.30.22277092
, A Signal-seeking Phase Iia Trial of Palbociclib in Advanced Cancers With Cell Cycle Pathway Alterations – A Substudy of the Molecular Screening and Therapeutics (Most) Program, http://dx.doi.org/10.21203/rs.3.rs-254137/v1
, Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology, http://dx.doi.org/10.1101/2020.12.18.20248521
, Engineered paediatric tumours retain maintains tumour genotype and phenotype for precision medicine, http://dx.doi.org/10.1101/2024.11.17.619539