Marcel Dinger - Profile

Biography

Marcel Dinger is Professor of Genome Biology and Dean of Science at the University of Sydney. He has 23 years' experience in genomics as both an academic and entrepreneur. He has published 167 papers that have collectively been cited >32,000 times (Google Scholar h-index 68) and is (co)-founder of four startups in biotechnology and IT. He is a board director of Pryzm Health, a digital health enterprise focused on optimising patient care by empowering physicians with AI-based clinical decision support technology and GenieUs, a genomics and machine-learning technology startup dedicated to finding new therapies for neurodegenerative diseases. He is the former President and Executive Committee Chair of the Australasian Genomics Technologies Association (AGTA), the principal body for the promotion of genomics research and technologies in Australasia. Marcel served as Head of School of Biotechnology and Biomolecular Sciences at UNSW Sydney from 2019 to 2022 and is a former Director of the governance board of National Centre for Indigenous Genomics (NCIG), an ANU-based centre focused on using genomics to improve the health and well-being of Australia's First Peoples and former Director of Scientia Clinical Research, a world-class clinical trials facility with a focus on early stage clinical research. Prior to his role at UNSW, Marcel was the Founding Chief Executive Officer of Genome.One, one of the first companies in the world to provide clinical whole genome sequencing services, and inaugural Head of the Kinghorn Centre for Clinical Genomics (KCCG) at the Garvan Institute of Medical Research from 2012-2018. As CEO of Genome.One, he brought together his expertise in informatics, biology and business to manage and direct a world-class clinical genomics service. As Head of KCCG, Marcel led a translational research laboratory that aimed to realise the utility of genomic medicine in routine clinical practice and explore the clinical value of non-protein-coding regions of the genome. In 2011, Marcel headed the Cancer Transcriptomics laboratory at the Diamantina Institute at the University of Queensland. Marcel undertook his postdoctoral studies at the Institute for Molecular Bioscience where he studied the role of long noncoding RNAs in mammalian development and disease. During his postdoc, Marcel led a number of key studies demonstrating the dynamic and specific expression of long noncoding RNAs that prompted extensive functional studies of these transcripts that were commonly assumed to be “junk”. Marcel has worked in informatics and genomics since 1998 in both commercial and academic capacities. As an entrepreneur in the early 2000s, Marcel established and grew three successful businesses; (i) a software company that produced DNA sequence analysis software, (ii) an information company that licensed databases to 10,000s of libraries and (iii) a web hosting company that became the fastest growing in New Zealand (exited by trade sale). Marcel was awarded his PhD in 2003 from the University of Waikato in New Zealand. In 2016, he was admitted as a Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia (RCPA) by Research and in 2023 was admitted as a Fellow of the Royal Society of NSW. He is a Graduate of the Australian Institute of Company Directors. In 2019, 2020, 2021, and 2022 Marcel was named in the Clarivate Analytics Highly Cited Researchers list from the Web of Science Group, which recognises scientists who have published a high number of papers that rank in the top 1% most-cited in their respective fields.

Professional networks and profiles

Publications

* Authors contributed equally

1. Peña Martinez CD, Zeraati M, Rouet R, Mazigi O, Henry JY, Gloss B, Kretzmann JA, Evans CW, Ruggiero E, Zanin I, Marušič M, Plavec J, Richter SN, Bryan TM, Smith NM, Dinger ME, Kummerfeld S, Christ D (2024). Human genomic DNA is widely interspersed with i-motif structures. EMBO Journal Published online 29 August.
2. Zeraati M, Ross SE, Aghaei B, Rajal AG, King C, Dinger ME (2023). Protocol for the production and purification of an i-Motif-specific nanobody. STAR Protocols. 4:102729.
3. Groza T, Wu H, Dinger ME, Danis D, Hilton C, Bagley A, Davids JR, Luo L, Lu Z, Robinson PN (2023). Term-BLAST-Like alignment tool for concept recognition in noisy clinical texts. Bioinformatics 39: btad716.
4. Ross SE, Vázquez-Marín J, Gert KRB, González-Rajal Á, Dinger ME, Pauli A, Martínez-Morales JR, Bogdanovic O (2023). Evolutionary conservation of embryonic DNA methylome remodelling in distantly related teleost species. Nucleic Acids Research 18: 9658–9671.
5. Sullivan PJ, Gayevskiy V, Davis RL, Wong M, Mayoh C, Mallawaarachchi A, Hort Y, McCabe MJ, Beecroft S, Jackson MR, Arts P, Dubowsky A, Laing N, Dinger ME, Scott HS, Oates E, Pinese M, Cowley MJ (2023). Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications. Genome Biology 24:118.
6. Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN (2023). Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. American Journal of Human Genetics 110:419-426.
7. Mattick JS, Amaral PP, Carninci P, Carpenter S, Chang HY, Chen LL, Chen R, Dean C, Dinger ME, Fitzgerald KA, Gingeras TR, Guttman M, Hirose T, Huarte M, Johnson R, Kanduri C, Kapranov P, Lawrence JB, Lee JT, Mendell JT, Mercer TR, Moore KJ, Nakagawa S, Rinn JL, Spector DL, Ulitsky I, Wan Y, Wilusz JE, Wu M (2023). Long non-coding RNAs: definitions, functions, challenges and recommendations. Nat Rev Mol Cell Biol 24: 430–447.
8. Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium (2022). Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. American Journal of Human Genetics 109:1960-1973.
9. Ewans LJ, Minoche AE, Schofield D, Shrestha R, Puttick C, Zhu Y, Drew A, Gayevskiy V, Elakis G, Walsh C, Adès LC, Colley A, Ellaway C, Evans CA, Freckmann ML, Goodwin L, Hackett A, Kamien B, Kirk EP, Lipke M, Mowat D, Palmer E, Rajagopalan S, Ronan A, Sachdev R, Stevenson W, Turner A, Wilson M, Worgan L, Morel-Kopp MC, Field M, Buckley MF, Cowley MJ, Dinger ME*, Roscioli T* (2022). Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. European Journal of Human Genetics 30:1121-1131.
10. Bartonicek N, Rouet R, Warren J, Loetsch C, Rodriguez GS, Walters S, Lin F, Zahra D, Blackburn J, Hammond JM, Reis ALM, Deveson IW, Zammit N, Zeraati M, Grey S, Christ D, Mattick JS, Chtanova T, Brink R, Dinger ME, Weatheritt RJ, Sprent J, King C (2022). The retroelement Lx9 puts a brake on the immune response to virus infection. Nature 608:757-765.
11. Davis RL, Raj R Kumar K, Puttick C, Liang C, Ahmad KE, Edema-Hildebrand F, Park JS, Minoche AE, Gayevskiy V, Mallawaarachchi AC, Christodoulou J, Schofield D, Dinger ME, Cowley MJ, Sue CM (2022). Use of whole-genome sequencing for mitochondrial disease diagnosis. Neurology 99:e730-e742.
12. Ghafouri-Fard S, Abak A, Baniahmad A, Hussen BM, Taheri M, Jamali E, Dinger ME. Interaction between non-coding RNAs, mRNAs and G-quadruplexes. Cancer Cell International 22:171.
13. Nash BM, Ma A, Ho G, Farnsworth E, Minoche AE, Cowley MJ, Barnett C, Smith JM, Loi TH, Wong K, St Heaps L, Wright D, Dinger ME, Bennetts B, Grigg JR, Jamieson RV (2022). Whole genome sequencing, focused assays and functional studies increasing understanding in cryptic inherited retinal dystrophies. International Journal of Molecular Science 23:3905
14. Ghafouri-Fard S, Hussen BM, Pashmforoush S, Akbari MT, Arsang-Jang S, Nazer N, Hamidieh AA, Hajifathali A, Dinger ME, Sayad A, Dehaghi MO (2022). HLA alleles and haplotype frequencies in Iranian population. Human Antibodies. Published online 18 March.
15. Cheng YY, Nunn J, Skinner J, Rambaldini B, Boughtwood T, Calma T, Brown A, Meldrum C, Dinger ME, Byrne JA, McCowen D, Potter J, Faires K, Cooper S, Gwynne K (2021). A pathway to precision medicine for aboriginal Australians: A study protocol. Methods and Protocols 4:42.
16. Ghafouri-Fard S, Dinger ME, Maleki P, Taheri M, Hajiesmaeili M (2021). Emerging role of circular RNAs in the pathobiology of lung cancer. Biomedicine and Pharmacotherapy 141:111805.
17. Ma A, Grigg JR, Flaherty M, Smith J, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Slater K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Brown NJ, Leighton SE, Amor DJ, Goel H, Dinger ME, Bennetts B, Jamieson RV (2021). Genome sequencing in congenital cataracts improves diagnostic yield. Human Mutation 42:1173-1183.
18. Field MJ, Kumar R, Hackett A, Kayumi S, Shoubridge CA, Ewans LJ, Ivancevic AM, Dudding-Byth T, Carroll R, Kroes T, Gardner AE, Sullivan P, Ha TT, Schwartz CE, Cowley MJ, Dinger ME, Palmer EE, Christie L, Shaw M, Roscioli T, Gecz J, Corbett MA (2021). Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human Mutation 42:835-847.
19. Keon M, Musrie B, Dinger ME, Brennan SE, Santos J, Saksena NK (2021). Destination Amyotrophic Lateral Sclerosis. Frontiers in Neurology 12:596006.
20. Hussen BM, Shoorei H, Mohaqiq M, Dinger ME, Hidayat HJ, Taheri M, Ghafouri-Fard S (2021). The impact of non-coding RNAs in the epithelial to mesenchymal transition. Frontiers in Molecular Biosciences 8:665199
21. Taheri M, Mahmud Hussen B, Tondro Anamag F, Shoorei H, Dinger ME*, Ghafouri-Fard S* (2021). The role of miRNAs and lncRNAs in conferring resistance to doxorubicin. Journal of Drug Targeting 31:1-48.
22. Minoche AE, Lundie B, Peters GB, Ohnesorg T, Pinese M, Thomas DM, Zankl A, Roscioli T, Schonrock N, Kummerfeld S, Burnett L, Dinger ME, Cowley MJ (2021). ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data. Genome Medicine 13:32.
23. Palmer EE, Sachdev R, Macintosh R, Melo US, Mundlos S, Righetti S, Kandula T, Minoche AE, Puttick C, Gayevskiy V, Hesson L, Idrisoglu S, Shoubridge C, Thai MHN, Davis RL, Drew AP, Sampaio H, Andrews PI, Lawson J, Cardamone M, Mowat D, Colley A, Kummerfeld S, Dinger ME, Cowley MJ, Roscioli T, Bye A, Kirk E (2021). Diagnostic yield of whole genome sequencing after non-diagnostic exome Sequencing or gene panel in developmental and epileptic encephalopathies. Neurology 96:e1770-e1782.
24. Akbari Dilmaghnai N, Shoorei H, Sharifi G, Mohaqiq M, Majidpoor J, Dinger ME, Taheri M, Ghafouri-Fard S (2021). Non-coding RNAs modulate function of extracellular matrix proteins. Biomedicine and Pharmacotherapy 136:111240.
25. Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ (2021). Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing. European Journal of Human Genetics 29:760–770.
26. Taheri M, Shoorei H, Anamag FT, Ghafouri-Fard S*, Dinger ME* (2021). LncRNAs and miRNAs participate in determination of response of cancer cells to cisplatin. Experimental and Molecular Pathology 123:104602.
27. Ebahimzadeh K, Shoorei H, Mousavinejad SA, Anamag FT, Dinger ME, Taheri M, Ghafouri-Fard S (2020). Emerging role of non-coding RNAs in response of cancer cells to radiotherapy. Pathology - Research & Practice 218:153327.
28. Safa A, Gholipour M, Dinger ME, Taheri M, Ghafouri-Fard S (2020). The critical roles of lncRNAs in the pathogenesis of melanoma. Experimental and Molecular Pathology 117:104558.
29. Taheri M, Eghtedarian R, Dinger ME*, Ghafouri-Fard S* (2020). Dysregulation of non-coding RNAs in autoimmune thyroid disease. Experimental and Molecular Pathology 117:104527.
30. Noroozi R, Dinger ME, Fatehi R, Taheri M, Ghafouri-Fard S (2020). Identification of miRNA-mRNA Network in Autism Spectrum Disorder using a bioinformatics method. Journal of Molecular Science 71:761–766.
31. Taheri M, Eghtedarian R, Dinger ME*, Ghafouri-Fard S* (2020). Dysregulation of non-coding RNAs in Rheumatoid arthritis. Biomedicine and Pharmacotherapy 130:110617.
32. Easteal S, Arkell RM, Balboa RF, Bellingham SA, Brown AD, Calma T, Cook MC, Davis M, Dawkins HJS, Dinger ME, Dobbie MS, Farlow A, Gwynne KG, Hermes A, Hoy WE, Jenkins MR, Jiang SH, Kaplan W, Leslie S, Llamas B, Mann GJ, McMorran BJ, McWhirter RE, Meldrum CJ, Nagaraj SH, Newman SJ, Nunn JS, Ormond-Parker L, Orr NJ, Paliwal D, Patel HR, Pearson G, Pratt GR, Rambaldini B, Russell LW, Savarirayan R, Silcocks M, Skinner JC, Souilmi Y, Vinuesa CG; National Centre for Indigenous Genomics, Baynam G (2020). Equitable expanded carrier screening needs indigenous clinical and population genomic data. American Journal of Human Genetics 107:175-182.
33. Taheri M, Shoorei H, Dinger ME*, Ghafouri-Fard S* (2020). Perspectives on the role of non-coding RNAs in the regulation of expression and function of the estrogen receptor. Cancers 12:E2162.
34. Taheri M, Eghtedarian R, Dinger ME*, Ghafouri-Fard S* (2020). Emerging roles of non-coding RNAs in the pathogenesis of type 1 diabetes mellitus. Biomedicine and Pharmacotherapy 129:110509.
35. Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger ME, Guerrini R, Macara IG, Christodoulou J. Mutations in the exocyst component EXOC2 cause severe defects in human brain development. Journal of Experimental Medicine 217:e20192040.
36. Taheri M, Eghtedarian R, Dinger ME*, Ghafouri-Fard S* (2020). Exploring the role of non-coding RNAs in the pathophysiology of Systemic Lupus Erythematosus. Biomolecules 10:937.
37. Ma A, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor DJ, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV (2020). Revealing hidden genetic diagnoses in the ocular anterior segment disorders. Genetics in Medicine 34:2051-2063.
38. Thomson DW, Shahrin NH, Wang PPS, Wadham C, Shanmuganathan N, Scott HS, Dinger ME, Hughes TP, Schreiber AW, Branford S (2020). Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia. Leukemia 34:2051-2063.
39. Pinese M, Lacaze P, Rath EM, Stone A, Brion MJ, Ameur A, Nagpal S, Puttick C, Husson S, Degrave D, Cristina TN, Kahl VFS, Statham AL, Woods RL, McNeil JJ, Riaz M, Barr M, Nelson MR, Reid CM, Murray AM, Shah RC, Wolfe R, Atkins JR, Fitzsimmons C, Cairns HM, Green MJ, Carr VJ, Cowley MJ, Pickett HA, James PA, Powell JE, Kaplan W, Gibson G, Gyllensten U, Cairns MJ, McNamara M, Dinger ME*, Thomas DM* (2020). The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. Nature Communications 11:435.
40. Moradi Marjaneh M, Beesley J, O'Mara TA, Mukhopadhyay P, Koufariotis LT, Kazakoff S, Hussein N, Fachal L, Bartonicek N, Hillman KM, Kaufmann S, Sivakumaran H, Smart CE, McCart Reed AE, Ferguson K, Saunus JM, Lakhani SR, Barnes DR, Antoniou AC, Dinger ME, Waddell N, Easton DF, Dunning AM, Chenevix-Trench G, Edwards SL, French JD (2020). Non-coding RNAs underlie genetic predisposition to breast cancer. Genome Biology 21:7.
41. Cheetham SW*, Faulkner GJ, Dinger ME* (2020). Overcoming challenges and dogmas to understand the functions of pseudogenes. Nature Reviews Genetics 21:191-201.
42. McCabe MJ, Gauthier MA, Chan CL, Thompson TJ, De Sousa SMC, Puttick C, Grady JP, Gayevskiy V, Tao J, Ying K, Cipponi A, Deng N, Swarbrick A, Thomas ML, Lord RV, Johns AL, Kohonen-Corish M, O'Toole SA, Clark J, Mueller SA, Gupta R, McCormack AI, Dinger ME, Cowley MJ; kConFab (2019). Development and validation of a targeted gene sequencing panel for application to disparate cancers. Scientific Reports 9:17052.
43. Liu PY, Tee AE, Milazzo G, Hannan KM, Maag J, Mondal S, Atmadibrata B, Bartonicek N, Peng H, Ho N, Mayoh C, Ciaccio R, Sun Y, Henderson MJ, Gao J, Everaert C, Hulme AJ, Wong M, Lan Q, Cheung BB, Shi L, Wang JY, Simon T, Fischer M, Zhang XD, Marshall GM, Norris MD, Haber M, Vandesompele J, Li J, Mestdagh P, Hannan RD, Dinger ME, Perini G, Liu T (2019). The long noncoding RNA lncNB1 promotes tumorigenesis by interacting with ribosomal protein RPL35. Nature Communications 10:5026.
44. Zammit NW, Siggs OM, Gray PE, Horikawa K, Langley DB, Walters SN, Daley SR, Loetsch C, Warren J, Yap JY, Cultrone D, Russell A, Malle EK, Villanueva JE, Cowley MJ, Gayevskiy V, Dinger ME, Brink R, Zahra D, Chaudhri G, Karupiah G, Whittle B, Roots C, Bertram E, Yamada M, Jeelall Y, Enders A, Clifton BE, Mabbitt PD, Jackson CJ, Watson SR, Jenne CN, Lanier LL, Wiltshire T, Spitzer MH, Nolan GP, Schmitz F, Aderem A, Porebski BT, Buckle AM, Abbott DW, Ziegler JB, Craig ME, Benitez-Aguirre P, Teo J, Tangye SG, King C, Wong M, Cox MP, Phung W, Tang J, Sandoval W, Wertz IE, Christ D, Goodnow CC, Grey ST (2019). Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity. Nature Immunology 20:1299-1310.
45. Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke S, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger ME, Buckley M, Roscioli T (2019). Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. Journal of Medical Genetics 56:629-638.
46. Stark Z, Nisselle A, McClaren B, Lynch F, Best S, Long JC, Martyn M, Patel C, Schlapbach LJ, Barnett C, Theda C, Pinner J, Dinger ME, Lunke S, Gaff CL (2019). Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care. European Journal of Human Genetics 27:1493-1501.
47. McCabe MJ, Pinese M, Chan CL, Sheriff N, Thompson TJ, Grady J, Wong M, Gauthier MA, Puttick C, Gayevskiy V, Hajdu E, Wong SQ, Barrett W, Earls P, Lukeis R, Cheng YY, Lin RCY, Thomas DM, Watkins DN, Dinger ME, McCormack AI, Cowley MJ (2019). Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases. Cold Spring Harbor Molecular Case Studies 5:a003764.
48. Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger ME, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST (2019). De novo variants disrupting the HX repeat motif of ATN1 cause a recognizable non-progressive neurocognitive syndrome. American Journal of Human Genetics 104:542-552.
49. Hansen DP, Dinger ME, Hofmann O, Thorne N, Boughtwood TF (2019). Preparing Australia for genomic medicine: data, computing and digital health. Medical Journal of Australia 6:S30-S32.
50. Currey N, Jahan Z, Caldon CE, Tran PN, Benthani F, De Lacavalerie P, Roden DL, Gloss BS, Campos C, Bean EG, Bullman A, Reibe-Pal S, Dinger ME, Febbraio MA, Clarke SJ, Dahlstrom JE, Kohonen-Corish MRJ (2019). Mouse model of 'Mutated in Colorectal Cancer' gene deletion reveals novel pathways in inflammation and cancer. Cellular and Molecular Gastroenterology and Hepatology 7:819-839.
51. Tousignant KD, Rockstroh A, Taherian Fard A, Lehman ML, Wang C, McPherson SJ, Philp LK, Bartonicek N, Dinger ME, Nelson CC, Sadowski MC (2019). Lipid uptake is an androgen-enhanced lipid supply pathway associated with prostate cancer disease progression and bone metastasis. Molecular Cancer Research 17:1166-1179.
52. Dwarte T, Barlow-Stewart K, O'Shea R, Dinger ME, Terrill B (2018). Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners. Journal of Genetic Counseling 28:378-387.
53. Gayevskiy V, Roscioli T, Dinger ME, Cowley MJ (2019). Seave: a comprehensive web platform for storing and interrogating human genomic variation. Bioinformatics 35:122-125.
54. Sweeney BA, Petrov AI, Burkov B, Finn RD, Bateman A, Szymanski M, Karlowski WM, Gorodkin J, Seemann SE, Cannone JJ, Gutell RR, Fey P, Basu S, Kay S, Cochrane G, Billis K, Emmert D, Marygold SJ, Huntley RP, Lovering RC, Frankish A, Chan PP, Lowe TM, Bruford E, Seal R, Vandesompele J, Volders PJ, Paraskevopoulou M, Ma L, Zhang Z, Griffiths-Jones S, Bujnicki JM, Boccaletto P, Blake JA, Bult CJ, Chen R, Zhao Y, Wood V, Rutherford K, Rivas E, Cole J, Laulederkind SJF, Shimoyama M, Gillespie ME, Orlic-Milacic M, Kalvari I, Nawrocki E, Engel SR, Cherry JM, Team S, Berardini TZ, Hatzigeorgiou A, Karagkouni D, Howe K, Davis P, Dinger M, He S, Yoshihama M, Kenmochi N, Stadler PF, Williams KP (2019). RNAcentral: a hub of information for non-coding RNA sequences. Nucleic Acids Research 47:D1250-D1251.
55. Cowley MJ, Liu YC, Oliver KL, Carvill G, Myers CT, Gayevskiy V, Delatycki M, Vlaskamp DRM, Zhu Y, Mefford H, Buckley MF, Bahlo M, Scheffer IE, Dinger ME, Roscioli T (2018). Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. Human Mutation 40:374-379
56. Liu Y, Yu Y, Dinger ME, Li J (2018). Index suffix-prefix overlaps by (w, k)-minimizer to generate long contigs for reads compression. Bioinformatics 35:2066-2074.
57. Lacaze P, Pinese M, Kaplan W, Stone A, Brion MJ, Woods RL, McNamara M, McNeil JJ, Dinger ME*, Thomas DM* (2018). The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design. European Journal of Human Genetics 27:308-316.
58. Zeraati M, Dinger ME, Christ D (2018). Selection of antibody fragments against structured DNA by phage display. Methods in Molecular Biology 1827:197-209.
59. Kumar KR, Wali G, Davis RL, Mallawaarachchi AC, Palmer EE, Gayevskiy V, Minoche AE, Veivers D, Dinger ME, Mackay-Sim A, Cowley MJ, Sue CM (2018). Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms. Molecular Genetics and Metabolism Reports 16:46-51.
60. Bagnall RD, Ingles J, Dinger ME, Cowley MJ, Ross SB, Minoche AE, Lal S, Turner C, Colley A, Rajagopalan S, Berman Y, Ronan A, Fatkin D, Semsarian C (2018). Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy. Journal of the American College Cardiology 72:419-429.
61. Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME*, Cowley MJ*, Fatkin D* (2018). Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. Genetics in Medicine 21:650-662.
62. Lancaster GI, Langley KG, Berglund NA, Kammoun HL, Reibe S, Estevez E, Weir J, Mellett NA, Pernes G, Conway JRW, Lee MKS, Timpson P, Murphy AJ, Masters SL, Gerondakis S, Bartonicek N, Kaczorowski DC, Dinger ME, Meikle PJ, Bond PJ, Febbraio MA (2018). Evidence that TLR4 is not a receptor for saturated fatty acids but mediates lipid-induced inflammation by reprogramming macrophage metabolism. Cell Metabolism 27:1096-1110.
63. Mattick JS, Dinger ME, Schonrock N, Cowley MJ (2018). Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing. Medical Journal of Australia 209:197-199.
64. Zeraati M, Langley DB, Schofield P, Moye AL, Rouet R, Hughes WE, Bryan TM, Dinger ME*, Christ D* (2018). I-motif DNA structures are formed in the nuclei of human cells. Nature Chemistry 10:631-637.
65. Gloss BS, Dinger ME (2018). Realising the significance of noncoding functionality in clinical genomics. Experimental & Molecular Medicine 50:97.
66. Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T (2018). Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. Genetics in Medicine 20:1564-1574.
67. Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr., Zoghbi HY (2018). A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Cell 172:924-936.
68. Deveson IW, Brunck ME, Blackburn J, Tseng E, Hon T, Clark TA, Clark MB, Crawford J, Dinger ME, Nielsen LK, Mattick JS, Mercer TR (2018). Universal alternative splicing of noncoding exons. Cell Systems 6:245-255.
69. Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK (2018). Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. Molecular Genetics and Genomic Medicine 6:186-199.
70. David D, Anand D, Araújo C, Gloss B, Fino J, Dinger ME, Lindahl P, Pöyhönen M, Hannele L, Lavinha J (2018). Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by keratolenticular dysgenesis and ectopia lentis. Experimental Eye Research 168:161-170.
71. Bartonicek N, Clark MB, Quek XC, Torpy J, Pritchard AL, Maag JL, Gloss BS, Crawford J, Taft RJ, Hayward NK, Montgomery GW, Mattick JS, Mercer TR, Dinger ME (2017). Intergenic disease-associated regions are abundant in novel transcripts. Genome Biology 18:241.
72. Signal B, Gloss BS, Dinger ME*, Mercer TR* (2017). Machine learning annotation of human branchpoints. Bioinformatics 34:920-927.
73. Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS (2017). Improved diagnosis and care for rare diseases through implementation of precision public health framework. Advances in Experimental Medicine and Biology 1031:55-94.
74. Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV (2017). NMNAT1 variants cause cone and cone-rod dystrophy. European Journal of Human Genetics 26:428-433.
75. Gururaj S, Palmer EE, Sheehan1 GD, Kandula T, Macintosh R, Ying K, Morris P, Tao J, Dias K, Zhu Y, Dinger ME, Cowley MJ, Kirk EP, Roscioli T, Sachdev R, Duffey ME, Bye A, Bhattacharjee A (2017). A de novo mutation in the Sodium-Activated Potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy. Cell Reports 21:926-933.
76. Suan D, Kräutler NJ, Maag JLV, Butt D, Bourne K, Hermes JR, Avery DT, Young C, Statham A, Elliott M, Dinger ME, Basten A, Tangye SG and Brink R (2017). CCR6 defines memory B cell precursors in mouse and human germinal centers revealing light zone location and predominant low antigen affinity. Immunity 47:1142-1153.
77. Hoang VLT, Tom LN, Quek XC, Tan JM, Payne EJ, Lin LL, Sinnya S, Raphael AP, Lambie D, Frazer IH, Dinger ME, Soyer HP, Prow TW (2017). RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers. PeerJ 5:e3631.
78. Betts JA, Moradi Marjaneh M, Al-Ejeh F, Lim YC, Shi W, Sivakumaran H, Tropée R, Patch AM, Clark MB, Bartonicek N, Wiegmans AP, Hillman KM, Kaufmann S, Bain AL, Gloss BS, Crawford J, Kazakoff S, Wani S, Wen SW, Day B, Möller A, Cloonan N, Pearson J, Brown MA, Mercer TR, Waddell N, Khanna KK, Dray E, Dinger ME, Edwards SL, French JD (2017). Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage. American Journal of Human Genetics 101:255-266.
79. Maag J, Fisher OM, Levert-Mignon AJ, Kaczorowski DC, Thomas ML, Hussey D, Watson D, Wettstein A, Bobryshev YV, Edwards M, Dinger ME*, Lord RV* (2017). Novel aberrations uncovered in Barrett's esophagus and esophageal adenocarcinoma using whole transcriptome sequencing. Molecular Cancer Research 15:1558-1569.
80. Khoo TK, Yu B, Smith JA, Clarke AJ, Luk PP, Selinger CI, Mahon KL, Kraitsek S, Palme C, Boyer MJ, Dinger ME, Cowley MJ, O'Toole SA, Clark JR, Gupta R (2017). Somatic mutations in salivary duct carcinoma and potential therapeutic targets. Oncotarget 8:75893-75903.
81. Gloss BS, Signal B, Cheetham SW, Gruhl F, Kaczorowski D, Perkins AC, Dinger ME (2017). High resolution temporal transcriptomics of mouse embryoid body development reveals complex expression dynamics of coding and noncoding loci. Scientific Reports 7:6731
82. Everaert C, Luypaert M, Maag JLV, Cheng QX, Dinger ME, Hellemans J, Mestdagh P (2017). Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data. Scientific Reports 7:1559.
83. Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J (2017). Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet J Rare Dis 12:83.
84. Zeraati M, Moye AL, Wong JW, Perera D, Cowley MJ, Christ DU, Bryan TM, Dinger ME (2017). Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression. Scientific Reports 7:708.
85. Maag JL, Kaczorowski DC, Panja D, Peters TJ, Bramham CR, Wibrand K, Dinger ME (2017). Widespread promoter methylation of synaptic plasticity genes in long-term potentiation in the adult brain in vivo. BMC Genomics 18:250.
86. Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C (2017). Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. Eur J Hum Genet. 25:763-767.
87. De Sousa SM, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI (2017). Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. European Journal of Endocrinology 176:635-644.
88. Tang Y, Cheung BB, Atmadibrata B, Marshall GM, Dinger ME, Liu PY, Liu T (2017). The regulatory role of long noncoding RNAs in cancer. Cancer Letters 391:12-19.
89. Barry G, Briggs JA, Hwang DW, Nayler SP, Fortuna PR, Jonkhout N, Dachet F, Maag JL, Mestdagh P, Singh EM, Avesson L, Kaczorowski DC, Ozturk E, Jones NC, Vetter I, Arriola-Martinez L, Hu J, Franco GR, Warn VM, Gong A, Dinger ME, Rigo F, Lipovich L, Morris MJ, O'Brien TJ, Lee DS, Loeb JA, Blackshaw S, Mattick JS, Wolvetang EJ (2017). The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability states. Scientific Reports 7:40127.
90. Liu PY, Sokolowski N, Guo ST, Siddiqi F, Atmadibrata B, Telfer TJ, Sun Y, Zhang L, Yu D, McCarroll J, Liu B, Yang RH, Guo XY, Tee AE, Itoh K, Wang J, Kavallaris M, Haber M, Norris MD, Cheung BB, Byrne JA, Ziegler DS, Marshall GM, Dinger ME, Codd R, Zhang XD, Liu T (2016). The BET bromodomain inhibitor exerts the most potent synergistic anticancer effects with quinone-containing compounds and anti-microtubule drugs. Oncotarget 7:79217-79232.
91. Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C, Pinese M, Gayevskiy V, Dinger ME, Roscioli T, Sue CM, Cowley MJ (2016). Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. Neurogenetics 17:265-270
92. Powell JE, Fung JN, Shakhbazov K, Sapkota Y, Cloonan N, Hemani G, Hillman KM, Kaufmann S, Luong HT, Bowdler L, Painter JN, Holdsworth-Carson SJ, Visscher PM, Dinger ME, Healey M, Nyholt DR, French JD, Edwards SL, Rogers PA, Montgomery GW (2016). Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339. Human Molecular Genetics 25:5046–5058.
93. Signal B, Gloss BS, Dinger ME (2016). Computational approaches for functional prediction and characterisation of long noncoding RNAs. Trends in Genetics 32:620-37.
94. Bartonicek N, Maag JLV, Dinger ME (2016). Long noncoding RNAs in cancer: mechanisms of action and technological advancements. Molecular Cancer 15:43.
95. Terrill BN, Dinger ME (2016). A user's guide to the human genome. O&G Magazine 18:18-21.
96. Mallawaarachchi AC, Hort Y, Cowley MJ, McCabe MJ, Minoche A, Dinger ME, Shine J, Furlong TJ (2016). Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. European Journal of Human Genetics 24:1584-1590.
97. Bussotti G, Leonardi T, Clark MB, Mercer TM, Crawford J, Malquori L, Notredame C, Dinger ME, Mattick JS, Enright AJ (2016). Improved definition of the mouse transcriptome via targeted RNA sequencing. Genome Research 26:705-716.
98. Bell C, Amaral P, Kalsbeek A, Magor G, Gillinder K, Tangermann P, Di Lisio L, Cheetham S, Gruhl F, Frith J, Tallack M, Ru K, Crawford J, Mattick JS, Dinger ME, and Perkins AC (2016). The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation. Scientific Reports 6:26657.
99. Thomson DW, Dinger ME (2016). Endogenous microRNA sponges: evidence and controversy. Nature Reviews Genetics 17: 272–283.
100. De Paoli-Iseppi R, Johansson PA, Menzies AM, Dias KR, Pupo GM, Kakavand H, Wilmott JS, Mann GJ, Hayward NK, Dinger ME, Long GV, Scolyer RA (2016). Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision making. Pathology 48:261-6.
101. Tee AE, Liu B, Song R, Li J, Pasquier E, Cheung BB, Jiang C, Marshall GM, Haber M, Norris MD, Fletcher JI, Dinger ME, Liu T (2016). The long noncoding RNA MALAT1 promotes tumor-driven angiogenesis by up-regulating pro-angiogenic gene expression. Oncotarget 7:8663-75.
102. Zhao W, Mazar J, Lee B, Sawada J, Li JL, Shelley J, Govindarajan S, Towler D, Mattick JS, Komatsu M, Dinger ME, Perera RJ (2016). The long non-coding RNA SPRIGHTLY regulates cell proliferation in primary human melanocytes. J Invest Dermatol 136:819-28.
103. McCabe MJ, Tarulli GA, Laven-Law G, Matthiesson KL, Meachem SJ, McLachlan RI, Dinger ME, Stanton PG (2016). Gonadotrophin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction. Human Reproduction 31:875-886.
104. Merlevede J, Droin N, Qin T, Meldi K, Yoshida K, Morabito M, Chautard E, Auboeuf D, Fenaux P, Braun T, Itzykson R, de Botton S, Quesnel B, Commes T, Jourdan E, Vainchenker W, Bernard O, Pata-Merci N, Solier S, Gayevskiy V, Dinger ME, Cowley MJ, Selimoglu-Buet D, Meyer V, Artiguenavev F, Deleuze JF, Preudhomme C, Stratton MR, Alexandrov LB, Padron E, Ogawa S, Koscielny S, Figueroa M, Solary E (2016). Mutation allele burden remains unchanged in chronic myelomonocytic leukemia responding to hypomethylating agents. Nature Communications 7: 10767.
105. McCabe MJ, Foo CFH, Dinger ME, Smooker PM, Stanton PG (2015). Claudin‐11 and occludin are major contributors to Sertoli cell tight junction function, in vitro. Asian Journal of Andrology 18:620-626.
106. Tevz G, McGrath S, Demeter R, Magrini V, Jeet V, Rockstroh A, McPherson S, Lai J, Bartonicek N, An J, Batra J, Dinger ME, Lehman ML, Williams ED, Nelson CC (2015). Identification of a novel fusion transcript between human relaxin-1 (RLN1) and human relaxin-2 (RLN2) in prostate cancer. Mol Cell Endocrinol 420:159-68.
107. Maag JLV, Panja D, Sporild I, Patil S, Kaczorowski DC, Bramham CR, Dinger ME, Wibrand K (2015). Dynamic expression of long noncoding RNAs and repeat elements in synaptic plasticity. Frontiers in Neuroscience 9:351.
108. Gloss BS, Dinger ME (2015). The specificity of long noncoding RNA expression. Biochim Biophys Acta 1859:16-22.
109. Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T, Bye A, Kilberg MS, Kirk EP (2015). Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine. Mol Genet Metab 116:178-86.
110. Clark MB, Mercer TR, Bussotti G, Leonardi T, Haynes KR, Crawford J, Lê Cao K, Brunck ME, Thomas GP, Taft RJ, Nielsen LK, Enright AJ, Mattick JS and Dinger ME (2015). Quantitative profiling of long noncoding RNAs with targeted RNA sequencing. Nature Methods 12:392-395.
111. Rogers S, Gloss BS, Lee CS, Sergio CM, Dinger ME, Musgrove EA, Burgess A, Caldon CE (2015). Cyclin E2 is the predominant E-cyclin associated with NPAT in breast cancer cells. Cell Division 10:1.
112. Mercer TR, Clark MB, Anderson S, Brunck ME, Crawford J, Taft RJ, Nielsen LK, Dinger ME*, Mattick JS* (2015). Genome-wide discovery of human splicing branchpoints. Genome Research 25:290-303.
113. Quek XC, Thomson, DW, Maag, JL, Bartonicek N, Signal B, Clark MB, Gloss BS and Dinger ME (2015). lncRNAdb v2.0: expanding the reference database for functional long noncoding RNAs. Nucleic Acids Res 43:D168-D173
114. Ulveling D, Dinger ME, Francastel C, Hubé F (2014). Identification of a dinucleotide signature that discriminates coding from non-coding long RNAs. Frontiers in Genetics 5:316.
115. Aftab MN, Dinger ME, Perera RJ (2014). The role of microRNAs and long non-coding RNAs in the pathology, diagnosis, and management of melanoma. Archives of Biochemistry and Biophysics 563:60-70.
116. Bauer D, Gaff C, Dinger ME, Caramins M, Buske FA, Fenech M, Hansen D, Cobiac L (2014). Genomics and personalised whole-of-life healthcare. Trends in Molecular Medicine 20:479-486.
117. Mazar J, Zhao W, Lee B, Shelley J, Govindarajan S, Yamamoto F, Ratnam M, Brill LM, Collins S, Finck BN, Han X, Mattick JS, Dinger ME, Perera RJ (2014). The functional characterization of long noncoding RNA SPRY4-IT1 in human melanoma cells. Oncotarget 5:8959-69.
118. Liu PY, Erriquez D, Marshall GM, Tee AE, Polly P, Wong M, Liu B, Bell JL, Zhang XD, Milazzo G, Cheung, BB, Fox A, Swarbrick A, Hüttelmaier S, Kavallaris M, Perini G, Mattick JS, Dinger ME, Liu T (2014). Effects of a novel long noncoding RNA, lncUSMycN, on N-Myc expression and neuroblastoma progression. J Natl Cancer Inst 106: dju113.
119. Mattick JS, Dziadek M, Terrill B, Kaplan W, Spigelman AD, Bowling F, Dinger ME (2014). The impact of genomics on the future of medicine and health. Medical Journal of Australia 201:17-20.
120. Tee A, Ling D, Nelson C, Atmadibrata B, Dinger ME, Xu N, Mizukami T, Liu PY, Liu B, Cheung B, Pasquier E, Haber M, Norris MD, Suzuki T, Marshall GM, Liu T (2014). The histone demethylase JMJD1A induces cell migration and invasion by up-regulating the expression of the long noncoding RNA MALAT1. Oncotarget 5: 1793-804
121. Mercer TR, Clark MB, Crawford J, Brunck ME, Gerhardt DJ, Taft RJ, Nielsen LK, Dinger ME*, Mattick JS* (2014). Targeted sequencing for gene discovery and quantification using RNA CaptureSeq. Nature Protocols 9: 989-1009.
122. Vogelzang A, McGuire H, Liu SM, Gloss B, Mercado K, Earls P, Dinger ME, Batten M, Sprent, King C (2014). Interleukin-21 contributes to fatal inflammatory disease in the absence of FoxP3+ T regulatory cells. Journal of Immunology 192:1404-1414.
123. Li JL, Mazer J, Zhong C, Faulkner GJ, Govindarajan SS, Zhang Z, Dinger ME, Meredith G, Adams C, Zhang S, Mattick JS, Ray A, Perera RJ (2013). Genome-wide assessment of methylated CpG island signatures in melanoma cell lines. Scientific Reports 3: 2962
124. Mattick JS, Dinger ME (2013). The extent of functionality in the human genome. HUGO Journal 7: 2.
125. Dave RK, Dinger ME, Andrew M, Askarian-Amiri M, Hume DA, Kellie S (2013). Regulated expression of PTPRJ/CD148 and an antisense long noncoding RNA in macrophages by proinflammatory stimuli. PLoS One 8: e68306.
126. Cheetham S, Gruhl F, Mattick JS, Dinger ME (2013). Long noncoding RNAs and the genetics of cancer. Brit J Cancer 108: 2419-25.
127. Amaral PP, Dinger ME, Mattick JS (2013). Regulatory RNAs in homeostasis, disease and stress responses: an evolutionary perspective. Brief Funct Genomic 12: 254-78.
128. Marcellin E, Mercer TR, Licona-Cassani C, Palfreyman RW, Dinger ME, Steen JA, Mattick JS, Nielsen LK (2013). Saccharopolyspora erythraea's genome is organised in high-order transcriptional regions mediated by targeted degradation at the metabolic switch. BMC Genomics 14: 15.
129. Gascoigne DK, Cheetham SW, Cattenoz PB, Clark MB, Amaral PP, Taft RJ, Wilhelm D, Dinger ME*, Mattick JS* (2012). Pinstripe: a suite of programs for integrating transcriptomic and proteomic datasets identifies novel proteins and improves differentiation of protein-coding and non-coding genes. Bioinformatics 28: 3042-50.
130. Shore AN, Kabotyanski EB, Roarty K, Smith MA, Zhang Y, Creighton CJ, Dinger ME, Rosen JM (2012). Pregnancy-Induced Noncoding RNA (PINC) associates with Polycomb Repressive Complex 2 and regulates mammary epithelial differentiation. PLoS Genet 8: e1002840.
131. Clark MB, Johnston RL, Inostroza-Ponta M, Fox AH, Fortini E, Moscato P, Dinger ME*, Mattick JS* (2012). Genome-wide analysis of long noncoding RNA stability. Genome Research 22: 885-898.
132. Chen H, Palmer JS, Thiagarajan RD, Dinger ME, Lesieur E, Chiu H, Schulz A, Spiller C, Grimmond SM, Little MH, Koopman P, Wilhelm D (2012). Identification of novel markers of mouse fetal ovary development. PLoS One 7: e41683.
133. Smart CE, Askarian-Amiri ME, Wronski A, Dinger ME, Crawford J, Ovchinnikov DA, Cristina-Vargas A, Reid L, Simpson PT, Song S, Wiesner C, French JD, Dave RK, de Silva L, Purdon A, Andrew M, Lakhani SR, Mattick JS, Brown MA, Kellie S (2012). Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors. PLoS One 7: e40742.
134. Mercer TR, Gerhardt DJ, Dinger ME, Crawford J, Trapnell C, Jeddeloh JA, Mattick JS, Rinn, JL (2012). Targeted RNA sequencing reveals the deep complexity of the human transcriptome. Nat Biotech 30: 99-104
135. Dinger ME (2011). lncRNAs: finding the forest among the trees? Mol Therapy 19: 2109-11.
136. Bateman A, Agrawal S, Birney E, Bruford EA, Bujnicki JM, Cochrane G, Cole JR, Dinger ME, Enright AJ, Gardner PP, Gautheret D, Griffiths-Jones S, Harrow J, Herrero J, Holmes IH, Huang HD, Kelly KA, Kersey P, Kozomara A, Lowe TM, Marz M, Moxon S, Pruitt KD, Samuelsson T, Stadler PF, Vilella AJ, Vogel JH, Williams KP, Wright MW, Zwieb C (2011). RNAcentral: A vision for an international database of RNA sequences. RNA 17: 1941-6.
137. Dinger ME, Gascoigne DK, Mattick JS (2011). The evolution of multifunctional RNAs. Biochimie. 93: 2013-8.
138. Mercer TR, Neph S, Dinger ME, Crawford J, Smith MS, Shearwood A-MJ, Rackham O, Haugen E, Stamatoyannopoulos JA, Filopovska A, and Mattick JS (2011). The human mitochondrial transcriptome. Cell 146: 645-658.
139. Clark MB, Amaral PP, Schlesinger FJ, Dinger ME, Taft RJ, Rinn JL, Ponting CP, Stadler PF, Morris KJ, Morillon A, Rozowsky JS, Gerstein M, Wahlestedt C, Hayashizaki Y, Carninci P, Gingeras TR, Mattick JS (2011). The reality of pervasive transcription. PLoS Biology 9: e1000625.
140. Khaitan D*, Dinger ME*, Mazar J, Crawford J, Smith MA, Mattick JS, Perera RJ (2011). The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion. Cancer Res 71: 3852-3862.
141. Askarian-Amiri ME, Crawford J, French JD, Smart CE, Smith MA, Clark MB, Ru K, Mercer TR, Thompson ER, Lakhani SR, Vargas AC, Campbell IG, Brown MA, Dinger ME*, Mattick JS* (2011). SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer. RNA 17: 878-891.
142. Bracken CP, Szubert JM, Mercer TR, Dinger ME, Thomson DW, Mattick JS, Michael MZ, Goodall GJ (2011). Global analysis of the mammalian RNA degradome reveals widespread miRNA-dependent and miRNA-independent endonucleolytic cleavage. Nucleic Acids Research 39: 5658-5668.
143. Mercer TR*, Wilhelm D*, Dinger ME*, Solda G*, Korbie DJ, Glazov EA, Truong V, Schwenke M, Simons C, Matthaei KI, Saint R, Koopman P, Mattick JS (2010). Expression of distinct RNAs from 3’ untranslated regions. Nucleic Acids Res 39: 2393-2403.
144. Amaral PP, Clark MB, Gascoigne DK, Dinger ME*, Mattick JS* (2010). lncRNAdb: a reference database for long noncoding RNAs. Nucleic Acids Research 39: D146-151.
145. Mercer TR, Dinger ME, Bracken CP, Kolle G, Szubert JM, Korbie DJ, Askarian-Amiri, ME, Gardiner BB, Goodall GJ, Grimmond SM, Mattick JS (2010). Regulated post-transcriptional RNA cleavage diversifies the eukaryotic transcriptome. Genome Research 20: 1639-1650.
146. Mazar J, Sinha S, Dinger ME, Mattick JS, Perera RJ (2010). Protein-coding and non-coding gene expression analysis in differentiating human keratinocytes using a three-dimensional epidermal equivalent. Mol Genet Genom 284: 1-9.
147. Lai J, Lehman ML, Dinger ME, Hendy SC, Mercer TR, Seim I, Lawrence MG, Mattick JS, Clements JA, Nelson CC (2010). A variant of the KLK4 gene is expressed as a cis sense–antisense chimeric transcript in prostate cancer cells. RNA 16: 1156-66.
148. Risueño A, Fontanillo C, Dinger ME, De Las Rivas J (2010). GATExplorer: Genomic and Transcriptomic Explorer; mapping expression probes to gene loci, transcripts, exons and ncRNAs. BMC Bioinformatics 11: 221.
149. Mercer TR, Qureshi IA, Goken S, Dinger ME, Li G, Mattick JS, Mehler MF (2010). Long noncoding RNAs in neuronal-glial fate specification and oligodendrocyte lineage maturation. BMC Neuroscience 11: 14.
150. Taft RJ, Pang KC, Mercer TR, Dinger ME, Mattick JS (2010). Non-coding RNAs: regulators of disease. J Pathol 220: 126-39.
151. Dinger ME, Amaral PP, Mercer TR, Mattick JS (2009). Pervasive transcription of the eukaryotic genome: functional indices and conceptual implications. Brief Funct Genomic Proteomic. 8: 407-23.
152. Pang KC, Dinger ME, Mercer TR, Malquori L, Grimmond SM, Chan W, Mattick JS (2009). Genome-wide identification of long noncoding RNAs in CD8+ T cells. J Immunol. 182: 7738-7748.
153. Mercer TR*, Dinger ME*, Mattick JS (2009). Long noncoding RNAs: insights into function. Nature Reviews Genetics. 10: 155-159.
154. Sunwoo H, Dinger ME, Wilusz JE, Amaral PP, Mattick JS, Spector DL (2009). MEN ϵ/β nuclear retained non-coding RNAs are up-regulated upon muscle differentiation and are essential components of paraspeckles. Genome Res 19: 347-359.
155. Mattick JS, Amaral PP, Dinger ME, Mercer TR, Mehler MF (2009). RNA control of epigenetic processes. Australian Biochemist 39: 4-8
156. Dinger ME, Pang KC, Mercer TR, Crowe ML, Grimmond SM, Mattick JS (2009). NRED: a database of long noncoding RNA expression. Nucleic Acid Res 37: D122-6.
157. Mattick JS, Amaral PP, Dinger ME, Mercer TR, Mehler MF (2009). RNA regulation of epigenetic processes. Bioessays. 31: 51-59.
158. Mercer TR, Dinger ME, Mariani J, Kosik KS, Mehler MF, Mattick JS (2008). Noncoding RNAs in long-term memory formation. Neuroscientist. 14: 434-445.
159. Dinger ME, Pang KC, Mercer TR, Mattick JS (2008). Differentiating protein-coding and noncoding RNA: challenges and ambiguities. PLoS Comp Biol 4: e1000176.
160. Dinger ME, Amaral PP, Mercer TR, Pang KC, Bruce SJ, Gardiner BB, Askarian-Amiri ME, Ru K, Soldà G, Simons C, Sunkin SM, Crowe ML, Grimmond SM, Perkins AC, Mattick JS (2008). Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation. Genome Research 18: 1433-1445.
161. Amaral PP, Dinger ME, Mercer TR, Mattick JS (2008). The eukaryotic genome as an RNA machine. Science 319: 1787-1789.
162. Dinger ME, Mercer TR, Mattick JS (2008). RNAs as extracellular signaling molecules. J Mol Endocrinol 40: 151-159.
163. Mercer TR, Dinger ME, Sunkin SM, Mehler MF, Mattick JS (2008). Specific expression of long noncoding RNAs in the adult mouse brain. Proc Natl Acad Sci USA 105: 716-721.
164. Pang KC, Stephen S, Dinger ME, Engstrom PG, Lenhard B, Mattick JS (2007). RNAdb 2.0--an expanded database of mammalian non-coding RNAs. Nucleic Acids Res 35: D178-182.
165. Musgrave DR, Zhang X, Dinger ME (2002). Archaeal genome organization and stress responses: implications for the origin and evolution of cellular life. Astrobiology 2: 241-253.
166. Dinger ME, Baillie GJ, Musgrave DR (2000). Growth phase-dependent expression and degradation of histones in the thermophilic archaeon Thermococcus zilligii. Mol Microbiol 36: 876-885.
167. Dinger ME, Musgrave DR (2000). Identification of archaeal genes encoding a novel stationary phase-response protein. Biochim Biophys Acta 1490: 115-120.

Professional Experience

• 2023-present - Dean of Science, University of Sydney
• 2024-present - Executive Member, Australian Council of Deans of Science (ACDS)
• 2018-present - Director and Co-Founder, Pryzm Health Pty Ltd
• 2020-present - Director, GenieUs Pty Ltd
• 2019-2023 - President, Australasian Genomics Technologies Association
• 2019-2022 - Professor of Genome Biology, School of Biotechnology and Biomolecular Sciences, UNSW Sydney
• 2019-2022 - Director, Governance Board of National Centre for Indigenous Genomics, ANU
• 2021-2022 - Director, Scientia Clinical Research Pty Ltd
• 2019-2022 - Head of School of Biotechnology and Biomolecular Sciences, UNSW Sydney
• 2016-2018 - Chief Executive Officer, Director and Co-Founder, Genome.One Pty Ltd
• 2012-2018 - Head, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
• 2012-2018 - Conjoint Associate Professor, Faculty of Medicine, UNSW Sydney
• 2011-2012 - Group Leader, Diamantina Institute, University of Queensland
• 2009-2010 - Senior Research Officer, Institute for Molecular Bioscience, University of Queensland
• 2005-2008 - Postdoctoral Fellow, Institute for Molecular Bioscience, University of Queensland
• 2003-2005 - Director and Founder, Kiwi Web Hosting Company, New Zealand
• 2003-2004 - Lecturer (Casual), University of Waikato, New Zealand

Awards and Honours

• 2023 - Fellow of the Royal Society of NSW
• 2022 - Highly Cited Researcher in the Cross-Field category, Web of Science Group, Clarivate Analytics
• 2021 - Highly Cited Researcher in the Cross-Field category, Web of Science Group, Clarivate Analytics
• 2020 - Highly Cited Researcher in the Cross-Field category, Web of Science Group, Clarivate Analytics
• 2019 - Highly Cited Researcher in the Cross-Field category, Web of Science Group, Clarivate Analytics
• 2016 - Fellow of the Faculty of Science (Research), Royal College of Pathologists of Australasia
• 2010 - NHMRC Career Development Award
• 2009 - Queensland Government Smart Futures Fellowship
• 2005 - Foundation of Research, Science and Technology New Zealand Postdoctoral Fellowship
• 1999 - University of Waikato PhD Scholarship
• 1997 - University of Waikato Masters and Honours Award

Education

• 2016 - GAICD, Australian Institute of Company Directors, Australia
• 2003 - PhD, Biological Sciences, University of Waikato, New Zealand
• 1998 - MSc (Hons I), Biological Sciences, University of Waikato, New Zealand
• 1996 - BSc, Biological Sciences, University of Waikato, New Zealand

Contact

Email: marcel.dinger@sydney.edu.au