2024

• Cheong, P., Goodwin, A., Trent, R., Yu, B. (2024). Germline potential should not be overlooked for cancer variants identified in tumour-only somatic mutation testing. Pathology, 56(4), 468-472. [More Information]

2023

• Willcox, D., Canova, M., Halliburton, C., Hibbitt, O., Norris, S., Penna, A., Perkins, A., Pilowsky, E., Rushton, S., Trent, R., Berman, Y., et al (2023). Making good on the promise of genomics in healthcare: the NSW Health perspective. Australian Health Review, 47(6), 631-633. [More Information]

2021

• Watts, G., Sullivan, D., Hare, D., Kostner, K., Horton, A., Bell, D., Brett, T., Trent, R., Poplawski, N., Martin, A., Srinivasan, S., Chow, C., et al (2021). Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians. Internal Medicine Journal, 51(5), 769-779. [More Information]
• Watts, G., Sullivan, D., Hare, D., Kostner, K., Horton, A., Bell, D., Brett, T., Trent, R., Poplawski, N., Martin, A., Srinivasan, S., Chow, C., et al (2021). Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia. Heart, Lung, and Circulation, 30(3), 324-349. [More Information]
• Watts, G., Sullivan, D., Hare, D., Kostner, K., Horton, A., Bell, D., Brett, T., Trent, R., Poplawski, N., Martin, A., Srinivasan, S., Chow, C., et al (2021). Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective. American Journal of Preventive Cardiology, 6, 100151. [More Information]

2016

• Fukuda, Y., Cheong, P., Lynch, J., Brighton, C., Frase, S., Kargas, V., Rampersaud, E., Wang, Y., Sankaran, V., Yu, B., Trent, R., et al (2016). The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. Nature Communications, 7, 1-9. [More Information]

2015

• Yu, B., O'Toole, S., Trent, R. (2015). Somatic DNA mutation analysis in targeted therapy of solid tumours. Translational Pediatrics, 4(2), 125-138. [More Information]

2014

• Hinchcliffe, M., Le, H., Fimmel, A., Molloy, L., Freeman, L., Sullivan, D., Trent, R. (2014). Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting. Pathology, 46(1), 60-68. [More Information]
• Trent, R. (2014). Direct-to-consumer DNA genetic testing and the GP. Australian Family Physician, 43(7), 436-439. [More Information]

2013

• Pamphlett, R., Cheong, P., Trent, R., Yu, B. (2013). Can ALS-Associated C9orf72 Repeat Expansions be Diagnosed on a Blood DNA Test Alone? PloS One, 8(7), 1-6. [More Information]
• Ramos, E., Latourelle, J., Gillis, T., Mysore, J., Squitieri, F., Di Pardo, A., Di Donato, S., Gellera, C., Hayden, M., Morrison, P., Trent, R., McCusker, E., et al (2013). Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics, 14(3-4), 173-179. [More Information]
• Trent, R. (2013). Direct-to-consumer genetic testing - clinical considerations. Medical Journal of Australia, 198(9), 496-498. [More Information]
• Cooper, W., Yu, B., Yip, P., Ng, C., Lum, T., Farzin, M., Trent, R., Mercorella, B., Clarkson, A., Kohonen-Corish, M., Horvath, L., Kench, J., McCaughan, B., Gill, A., O'Toole, S. (2013). EGFR mutant-specific immunohistochemistry has high specificity and sensitivity for detecting targeted activating EGFR mutations in lung adenocarcinoma. Journal of Clinical Pathology, 66(9), 744-748. [More Information]
• Yip, P., Yu, B., Cooper, W., Selinger, C., Ng, C., Kennedy, C., Kohonen-Corish, M., McCaughan, B., Trent, R., Boyer, M., Kench, J., Horvath, L., O'Toole, S. (2013). Patterns of DNA mutations and ALK Rearrangement in Resected Node Negative Lung Adenocarcinoma. Journal of Thoracic Oncology, 8(4), 408-414. [More Information]
• Trent, R., Cheong, P., Chua, E., Kennedy, M. (2013). Progressing the utilisation of pharmacogenetics and pharmacogenomics into clinical care. Pathology, 45(4), 357-370. [More Information]

2012

• Lee, J., Ramos, E., Lee, J., Gillis, T., Mysore, J., Hayden, M., Warby, S., Morrison, P., Nance, M., Ross, C., Trent, R., McCusker, E., et al (2012). CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology, 78(10), 690-695. [More Information]
• Lee, J., Gillis, T., Mysore, J., Ramos, E., Myers, R., Hayden, M., Morrison, P., Nance, M., Ross, C., Margolis, R., Trent, R., et al (2012). Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region. American Journal of Human Genetics, 90(3), 434-444. [More Information]
• Poursoltana, P., Currey, N., Pangon, L., van Kralingen, C., Selinger, C., Mahar, A., Cooper, W., Kennedy, C., McCaughan, B., Trent, R., et al (2012). Loss of heterozygosity of the Mutated in Colorectal Cancer gene is not associated with promoter methylation in non-small cell lung cancer. Lung Cancer, 77(2), 272-276. [More Information]
• Ramos, E., Latourelle, J., Lee, J., Gillis, T., Mysore, J., Squitieri, F., Di Pardo, A., Di Donato, S., Hayden, M., Morrison, P., Trent, R., McCusker, E., et al (2012). Population stratification may bias analysis of PGC-1(alpha) as a modifier of age at Huntington disease motor onset. Human Genetics, 131(12), 1833-1840. [More Information]
• Lee, J., Lee, J., Ramos, E., Gillis, T., Mysore, J., Kishikawa, S., Hadzi, T., Hendricks, A., Hayden, M., Morrison, P., Trent, R., McCusker, E., et al (2012). TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications, 424(3), 404-408. [More Information]
• Pamphlett, R., Cheong, P., Trent, R., Yu, B. (2012). Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study. NeuroReport, 23(9), 556-559. [More Information]

2011

• Watts, G., Sullivan, D., Poplawski, N., van Bockxmeer, F., Hamilton-Craig, I., Clifton, P., O'Brien, R., Bishop, W., George, P., Barter, P., Freeman, L., Krass, I., Trent, R., et al (2011). Familial hypercholesterolaemia: A model of care for Australasia. Atherosclerosis Supplements, 12(2), 221-263. [More Information]

2010

• Wollstein, A., Lao, O., Becker, C., Brauer, S., Trent, R., Nurnberg, P., Stoneking, M., Kayser, M. (2010). Demographic History of Oceania Inferred from Genome-wide Data. Current Biology, 20(22), 1983-1992. [More Information]
• Luquin, N., Yu, B., Trent, R., Pamphlett, R. (2010). DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 11(40210), 76-82. [More Information]
• Yu, B., Trent, R. (2010). Genetics of Athletic Performance. Encyclopedia of Life Sciences, (pp. 1-8).
• Trent, R., Otlowski, M., Ralston, M., Lonsdale, L., Young, M., Suthers, G., Griffiths, P., Delatycki, M., Christodoulou, J., Barlow-Stewart, K. (2010). Medical Genetic Testing: Information for health professionals, NHMRC Publication reference: E99, (pp. vi - 94). Canberra, Australia: Australian Government National Health and Medical Research Council.
• Trent, R. (2010). Pathology practice and pharmacogenomics. Pharmacogenomics, 11(1), 105-111. [More Information]

2009

• Morahan, J., Morahan, J., Yu, B., Yu, B., Trent, R., Trent, R., Pamphlett, R., Pamphlett, R. (2009). A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 10(5-6), 418-429. [More Information]
• Luquin, N., Yu, B., Saunderson, R., Trent, R., Pamphlett, R. (2009). Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. Neuromuscular Disorders, 19(10), 696-700. [More Information]
• Trent, R., Yu, B. (2009). The future of genetic research in exercise science and sports medicine. Medicine and Sport Science, 54, 187-195. [More Information]

2008

• Luquin, N., Yu, B., Trent, R., Morahan, J., Pamphlett, R. (2008). An analysis of the entire SOD1 gene in sporadic ALS. Neuromuscular Disorders, 18(7), 545-552. [More Information]
• Le, H., Hinchcliffe, M., Yu, B., Trent, R. (2008). Computer-assisted reading of DNA sequences. Methods in molecular medicine, 141(Clinical Bioinformatics), 177-197. [More Information]
• Kayser, M., Lao, O., Saar, K., Brauer, S., Wang, X., Nurnberg, P., Trent, R., Stoneking, M. (2008). Genome-wide Analysis Indicates More Asian than Melanesian Ancestry of Polynesians. American Journal of Human Genetics, 82(1), 194-198. [More Information]
• Kayser, M., Choi, Y., van Oven, M., Mona, S., Brauer, S., Trent, R., Suarkia, D., Schiefenhovel, W., Stoneking, M. (2008). The impact of the Austronesian expansion: Evidence from mtDNA and Y chromosome diversity in the Admiralty Islands of Melanesia. Molecular Biology and Evolution, 25(7), 1362-1374. [More Information]

2007

• Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. Journal of the Neurological Sciences, 267, 125-128. [More Information]
• Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). Are enteroviral receptors different in sporadic motor neuron disease? Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 8(1), 26-30. [More Information]
• Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2007). Genetic susceptibility to environmental toxicants in ALS. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 144B (7), 885-890. [More Information]
• Myles, S., Hradetzky, E., Engelken, J., Lao, O., Numberg, P., Trent, R., Wang, X., Kayser, M., Stoneking, M. (2007). Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians. European Journal of Human Genetics, 15(5), 584-589. [More Information]
• Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). Low yield in screening patients with sporadic motor neuron disease for Kennedy disease. Internal Medicine Journal, 37(11), 772-774. [More Information]
• Trent, R. (2007). NHMRC Human Genetics Advisory Committee. In Mark Stranger (Eds.), Human Biotechnology and Public Trust: Trends, Perceptions and Regulation, (pp. 247-252). Australia: University of Tasmania - Centre for Law and Genetics.

2006

• Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2006). A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis. NeuroToxicology, 28(3), 532-540. [More Information]
• Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2006). Are metallothionein genes silenced in ALS? Toxicology Letters, 168(1), 83-87. [More Information]
• Trent, R., Webster, B., Bowden, D., Gilbert, A., Ho, P., Lindeman, R., Lammi, A., Rowell, J., Hinchcliffe, M., Colley, A., et al (2006). Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing. Pathology, 38(6), 507-519. [More Information]
• Trent, R. (2006). Diagnosis of the haemoglobinopathies. Clinical Biochemist Reviews, 27(1), 27-38. [More Information]
• Trent, R., Alexander, I. (2006). Gene therapy in sport. British Journal of Sports Medicine, 40(1), 4-5. [More Information]
• Li, J., Hayden, M., Warby, S., Durr, A., Morrison, P., Nance, M., Ross, C., Margolis, R., Rosenblatt, A., Trent, R., McCusker, E., et al (2006). Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Medical Genetics, 7, 71-71. [More Information]
• Kayser, M., Brauer, S., Cordaux, R., Casto, A., Lao, O., Zhivotovsky, L., Moyse-Faurie, C., Rutledge, R., Schiefenhoevel, W., Gil, D., Trent, R., et al (2006). Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific. Molecular Biology and Evolution, 23(11), 2234-2244. [More Information]
• Kohonen-Corish, M., Cooper, W., Saab, J., Thompson, J., Trent, R., Millward, M. (2006). Promoter hypermethylation of the O(6)-methylguanine DNA methyltransferase gene and microsatellite instability in metastatic melanoma. Journal of Investigative Dermatology, 126(1), 167-171. [More Information]
• Gopinath, B., Trent, R., Yu, B. (2006). The unique expression profile of the androgen receptor gene in a rat model of neonatal cardiac hypertrophy. Pathology, 38(2), 142-144. [More Information]

2005

• Yu, B., Sawyer, N., Caramins, M., Yuan, Z., Saunderson, R., Pamphlett, R., Richmond, D., Jeremy, R., Trent, R. (2005). Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. Journal of Clinical Pathology, 58(5), 479-485. [More Information]
• Kohonen-Corish, M., Daniel, J., Chan, C., Lin, B., Kwun, S., Dent, O., Dhillon, V., Trent, R., Chapuis, P., Bokey, E. (2005). Low Microsatellite Instability Is Associated With Poor Prognosis in Stage C Colon Cancer. Journal of Clinical Oncology, 23(10), 2318-2324. [More Information]
• Trent, R. (2005). Molecular Medicine. Burlington, Massachusetts: Academic Press. [More Information]
• Trent, R. (2005). Oversight and monitoring of clinical research with gene therapy in Australia. Medical Journal of Australia, 182(9), 441-442. [More Information]
• Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2005). Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 6(2), 115-117. [More Information]
• Henderson, J., Withford-Cave, J., Duffy, D., Cole, S., Sawyer, N., Gulbin, J., Hahn, A., Trent, R., Yu, B. (2005). The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes. Human Genetics, 118(03-Apr), 416-423. [More Information]

2004

• Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2004). A Polymorphism In The Poliovirus Receptor Gene Differs In Motor Neuron Disease. NeuroReport, 15(2), 383-386. [More Information]
• Trent, R., Yu, B., Caramins, M. (2004). Challenges For Clinical Genetic DNA Testing. Expert Review of Molecular Diagnostics, 4(2), 201-208. [More Information]
• Djousse, L., Knowlton, B., Hayden, M., Almqvist, E., Brinkman, R., Ross, C., Margolis, R., Rosenblatt, A., Durr, A., Dode, C., Trent, R., et al (2004). Evidence For A Modifier Of Onset Age In Huntington Disease Linked To The Hd Gene In 4P16. Neurogenetics, 5, 109-14. [More Information]
• Trent, R., Alexander, I. (2004). Gene Therapy: Applications And Progress Towards The Clinic. Internal Medicine Journal, 34(11), 621-625. [More Information]
• Trent, R., Yu, B., Caramins, M. (2004). Introduction of molecular genetics and genomics into clinical practice. In Fuchs J, Podda M, Goethe JW (Eds.), Encyclopedia of Diagnostic Genomics and Proteomics. (pp. 676-681). New York: Marcel Dekker.
• Gopinath, B., Trent, R., Yu, B. (2004). Molecular Characterisation Of Neonatal Cardiac Hypertrophy And Its Regression. Cardiology in the Young, 14(5), 498-505. [More Information]
• Yu, B., Trent, R. (2004). Present And Prospective Applications Of Genetic Dna Testing (Part I). Chinese Journal of Contemporary Pediatrics, 6(5), 447-450.
• Yu, B., Trent, R. (2004). Present And Prospective Applications Of Genetic Dna Testing (Part II). Chinese Journal of Contemporary Pediatrics, 6(6), 538-541.
• Trent, R., Caramins, M., Yu, B. (2004). Separation techniques – Capillary electrophoresis. In Fuchs J and Podda M, Goethe JW (Eds.), Encyclopedia of Diagnostic Genomics and Proteomics. (pp. 210-215). New York: Marcel Dekker.
• Jen, J., Wang, H., Lee, H., Sabatti, C., Trent, R., Hannigan, I., Brantberg, K., Halmagyi, G., Nelson, S., Baloh, R. (2004). Suggestive Linkage To Chromosome 6Q In Families With Bilateral Vestibulopathy. Neurology, 63(12), 2376-9. [More Information]

2003

• Li, J., Hayden, M., Almqvist, E., Brinkman, R., Durr, A., Dode, C., Morrison, P., Suchowersky, O., Ross, C., Margolis, R., Trent, R. (2003). A genome scan for modifiers of age at onset in Huntington Disease: The HD MAPS Study. American Journal of Human Genetics, 73(3), 682-687. [More Information]
• Caramins, M., Halliday, G., McCusker, E., Trent, R. (2003). Genetically confirmed clinical Huntington's disease with no observable cell loss. Journal of Neurology, Neurosurgery and Psychiatry, 74(7), 968-970. [More Information]
• Djousse, L., Knowlton, B., Hayden, M., Almqvist, E., Brinkman, R., Ross, C., Margolis, R., Rosenblatt, A., Durr, A., Dode, C., Trent, R., et al (2003). Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. American Journal of Medical Genetics, Part A, 119A (3), 279-282. [More Information]
• Orange, S., Painter, D., Horvath, J., Yu, B., Trent, R., Hennessy, A. (2003). Placental endothelial nitric oxide synthase localization and expression in normal human pregnancy and pre-eclampsia. Clinical and Experimental Pharmacology and Physiology, 30(5-6), 376-381. [More Information]
• Trent, R., Williamson, R., Sutherland, A. (2003). The "new genetics" and clinical practice. Medical Journal of Australia, 11, 406-409.

2002

• Brown, L., Singh, L., Sale, K., Yu, B., Trent, R., Fajer, P., Hambly, B. (2002). Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C. European Biophysics Journal, 31(5), 400-408. [More Information]
• Huang, Q., Trevena, L., Kidd, M., Trent, R., Callen, J. (2002). The impact of the human genetic research on primary care: a summary of general practitioners on genetic counselling and testing in general practice. Research from the Ground Up, : British Medical Journal Publishing Group.

2001

• Dedic, J., Weiss, A., Yu, B., Trent, R., Katahira, J., Urban, Z. (2001). A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20. Human Mutation, 17, 81-81.

2000

• Trent, R., He, H., Yu, B., Young, G., Bowden, D. (2000). DNA testing for haemochromatosis: diagnostic, predictive and screening implications. Pathology, 32, 274-279. [More Information]
• Rivory, L., Qin, H., Clarke, S., Eris, J., Duggin, G., Ray, E., Trent, R., Bishop, J. (2000). Frequency of cytochrome P450 3A4 variant genotype in transplant population and lack of association with cyclosporin clearance. European Journal of Clinical Pharmacology, 56, 395-398.
• McCusker, E., Richards, F., Sillence, D., Wilson, M., Trent, R. (2000). Huntington's disease: neurological assessment of potential gene carriers presenting for predictive DNA testing. Journal of Clinical Neuroscience.
• Trent, R. (2000). Milestones in the human genome project: genesis to postgenome. Medical Journal of Australia, 173, 591-594.
• Yu, S., Fimmel, A., Fung, D., Trent, R. (2000). Polymorphisms in the CAG repeat- a source of error in Huntington disease DNA testing. Clinical Genetics, 58, 469-472.