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Professor Marcel Dinger

Professor Marcel Dinger

Adjunct Professor
Science
School of Biotech & Biomolecular Science

Research Program

Professor Dinger’s research laboratory seeks to establish new links between phenotype and genotype, particularly between rare and complex disease and underexplored regions of the genome, such as pseudogenes, repetitive elements, and those folding into non-canonical DNA structures or are transcribed into noncoding RNAs. Harnessing the potential of population scale genomic datasets, and sophisticated data science methods, the laboratory aims to bring an objective perspective to better understand how the genome stores information and how it is transacted in biology.

Biography

Marcel Dinger isڴǰ at . He has more than 20 years experience in genomics as both an academic and entrepreneur. He has published that have collectively been cited () and is (co)-founder of four startups in biotechnology and IT. He is a director on the board of, a digital health enterprise focused on developed tools to enable precision healthcare at population-scale, a director on the governance board of the, an-based centre focused on using genomics to improve the health and well-being of Australia's First Peoples, and President of the , the principal body for the promotion of genomics research and technologies in Australasia.

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 (KCCG) at the 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 at the . Marcel undertook his postdoctoral studies at thewhere 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.

Marcel was awarded his PhD in 2003 from the in New Zealand. In 2016, he was admitted as a Fellow of the of the (RCPA) by Research. He is a Graduate of the . In 2019, 2020 and 2021, Marcel was named in the Clarivate Analytics 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.

Highlighted publications

* Authors contributed equally

  1. 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). Nature Communications 11:435.
  2. Cheetham SW*, Faulkner GJ, Dinger ME* (2020). Nature Reviews Genetics 21:191-201.
  3. Zeraati M, Langley DB, Schofield P, Moye AL, Rouet R, Hughes WE, Bryan TM, Dinger ME*, Christ D* (2018). Nature Chemistry 10:631-637.
  4. Gloss BS, Dinger ME (2018). Experimental & Molecular Medicine 50:97.
  5. 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). Genome Biology 18:241.
  6. Signal B, Gloss BS, Dinger ME*, Mercer TR* (2017). Bioinformatics 34:920-927.
  7. Gloss BS, Signal B, Cheetham SW, Gruhl F, Kaczorowski D, Perkins AC, Dinger ME (2017). Scientific Reports 7:6731.
  8. Zeraati M, Moye AL, Wong JW, Perera D, Cowley MJ, Christ DU, Bryan TM, Dinger ME (2017). Scientific Reports 7:708.
  9. Signal B, Gloss BS, Dinger ME (2016). Trends in Genetics 32:620-37.
  10. Bartonicek N, Maag JLV, Dinger ME (2016). Molecular Cancer 15:43.
  11. Thomson DW, Dinger ME (2016). Nature Reviews Genetics 17: 272–283.
  12. Gloss BS, Dinger ME (2015). Biochimica et Biophysica Acta1859:16-22.
  13. 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). Nature Methods 12:392-395.
  14. Mercer TR, Clark MB, Anderson S, Brunck ME, Crawford J, Taft RJ, Nielsen LK, Dinger ME*, Mattick JS* (2015). Genome Research 25:290-303.
  15. Quek XC, Thomson, DW, Maag, JL, Bartonicek N, Signal B, Clark MB, Gloss BS and Dinger ME (2015). Nucleic Acids Research 43:D168-D173
  16. Cheetham S, Gruhl F, Mattick JS, Dinger ME(2013). British Journal of Cancer 108:2419-25.
  17. Clark MB, Johnston RL, Inostroza-Ponta M, Fox AH, Fortini E, Moscato P, Dinger ME*, Mattick JS* (2012). Genome Research22:885-898.
  18. Mercer TR, Gerhardt DJ, Dinger ME, Crawford J, Trapnell C, Jeddeloh JA, Mattick JS, Rinn, JL (2012).Nature Biotechnology30:99-104
  19. Dinger ME, Gascoigne DK, Mattick JS (2011). Biochimie. 93:2013-8.
  20. Khaitan D*, Dinger ME*, Mazar J, Crawford J, Smith MA, Mattick JS, Perera RJ (2011). Cancer Research 71:3852-3862.
  21. 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). RNA 17:878-891.
  22. Amaral PP, Clark MB, Gascoigne DK, Dinger ME*, Mattick JS* (2010). Nucleic Acids Research 39:D146-151.
  23. Mercer TR*, Dinger ME*, Bracken CP, Kolle G, Szubert JM, Korbie DJ, Askarian-Amiri, ME, Gardiner BB, Goodall GJ, Grimmond SM, Mattick JS (2010).Genome Research20:1639-1650.
  24. Mercer TR*, Dinger ME*, Mattick JS (2009). Nature Reviews Genetics10:155-159.
  25. Dinger ME, Pang KC, Mercer TR, Mattick JS (2008). PLoS Computational Biology4:e1000176.
  26. 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).Genome Research18:1433-1445.
  27. Amaral PP, Dinger ME, Mercer TR, Mattick JS (2008). Science 319:1787-1789.
  28. Mercer TR*, Dinger ME*, Sunkin SM, Mehler MF, Mattick JS (2008). Proc Natl Acad Sci USA 105:716-721.

For a full list of publications, refer to or .

Professional Experience

  • 2019-presentProfessor and Head of School of Biotechnology and Biomolecular Sciences, UNSW Sydney
  • 2019-present President, Australasian Genomics Technologies Association
  • 2019-present Director, Governance Board of National Centre for Indigenous Genomics
  • 2018-present Director, Pryzm Health Pty Ltd
  • 2020-present Director, GenieUs Pty Ltd
  • 2021-present Director, Scientia Clinical Research Pty Ltd
  • 2016-2018 Chief Executive Officer, Genome.One
  • 2012-2018 Head, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
  • 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

Awards and Honours

  • 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 Society 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 Awards

Education

  • 2016 - GAICD, Australian Institute of Company Directors, Australia
  • 2003 - PhD, Biochemistry, University of Waikato, New Zealand
  • 1998 - MSc (Hons I), Biochemistry, University of Waikato, New Zealand
  • 1996 - BSc, Biochemistry & Genetics, University of Waikato, New Zealand
Phone
+61 (0)2 90652029
E-mail
m.dinger@unsw.edu.au
Location
Room 520A, Level 5 Biological Sciences Building (North) D26 Kensington Campus
  • Book Chapters | 2018
    Zeraati M; Dinger ME; Christ D, 2018, 'Selection of antibody fragments against structured DNA by phage display', in Methods in Molecular Biology, pp. 197 - 209,
  • Journal articles | 2024
    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, 43, pp. 4786 - 4804,
    Journal articles | 2024
    Ross SE; Holliday H; Tsoli M; Ziegler DS; Dinger ME, 2024, 'Abstract B015: RNA N6-methyladenosine (m6A) as a therapeutic target in Diffuse Midline Glioma (DMG)', Cancer Research, 84, pp. B015 - B015,
    Journal articles | 2023
    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,
    Journal articles | 2023
    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', Nature Reviews Molecular Cell Biology, 24, pp. 430 - 447,
    Journal articles | 2023
    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, 51, pp. 9658 - 9671,
    Journal articles | 2023
    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, pp. 419 - 426,
    Journal articles | 2023
    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,
    Journal articles | 2023
    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,
    Journal articles | 2022
    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, pp. 757 - 765,
    Journal articles | 2022
    Davis RL; Kumar KR; 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, pp. E730 - E742,
    Journal articles | 2022
    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, pp. 1121 - 1131,
    Journal articles | 2022
    Ghafouri-Fard S; Abak A; Baniahmad A; Hussen BM; Taheri M; Jamali E; Dinger ME, 2022, 'Interaction between non-coding RNAs, mRNAs and G-quadruplexes', Cancer Cell International, 22,
    Journal articles | 2022
    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, 30, pp. 79 - 96,
    Journal articles | 2022
    Nash BM; Ma A; Ho G; Farnsworth E; Minoche AE; Cowley MJ; Barnett C; Smith JM; Loi TH; Wong K; Heaps LS; 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 Sciences, 23,
    Journal articles | 2022
    Taheri M; Mahmud Hussen B; Tondro Anamag F; Shoorei H; Dinger ME; Ghafouri-Fard S, 2022, 'The role of miRNAs and lncRNAs in conferring resistance to doxorubicin', Journal of Drug Targeting, 30, pp. 1 - 21,
    Journal articles | 2022
    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, 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,
    Journal articles | 2022
    Su Z; Smolnikov A; Khazaal A; Dinger M; Oates E, 2022, 'Comprehensive characterization of early-onset skeletal muscle disease gene exon usage and splicing patterns across different developmental ages', NEUROMUSCULAR DISORDERS, vol. 32, pp. S47 - S47,
    Journal articles | 2021
    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,
    Journal articles | 2021
    Cheng Y-Y; 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, pp. 42,
    Journal articles | 2021
    Ebahimzadeh K; Shoorei H; Mousavinejad SA; Anamag FT; Dinger ME; Taheri M; Ghafouri-Fard S, 2021, 'Emerging role of non-coding RNAs in response of cancer cells to radiotherapy', Pathology Research and Practice, 218,
    Journal articles | 2021
    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 noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, 42, pp. 835 - 847,
    Journal articles | 2021
    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,
    Journal articles | 2021
    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, pp. 665199,
    Journal articles | 2021
    Keon M; Musrie B; Dinger M; Brennan SE; Santos J; Saksena NK, 2021, 'Destination Amyotrophic Lateral Sclerosis', Frontiers in Neurology, 12, pp. 596006,
    Journal articles | 2021
    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, pp. 1173 - 1183,
    Journal articles | 2021
    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, pp. 760 - 770,
    Journal articles | 2021
    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, pp. 32,
    Journal articles | 2021
    Noroozi R; Dinger ME; Fatehi R; Taheri M; Ghafouri-Fard S, 2021, 'Identification of miRNA-mRNA Network in Autism Spectrum Disorder Using a Bioinformatics Method', Journal of Molecular Neuroscience, 71, pp. 761 - 766,
    Journal articles | 2021
    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 Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782,
    Journal articles | 2021
    Taheri M; Shoorei H; Tondro Anamag F; Ghafouri-Fard S; Dinger ME, 2021, 'LncRNAs and miRNAs participate in determination of sensitivity of cancer cells to cisplatin', Experimental and Molecular Pathology, 123,
    Journal articles | 2020
    Cheetham SW; Faulkner GJ; Dinger ME, 2020, 'Overcoming challenges and dogmas to understand the functions of pseudogenes', Nature Reviews Genetics, 21, pp. 191 - 201,
    Journal articles | 2020
    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; Baynam G, 2020, 'Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data', American Journal of Human Genetics, 107, pp. 175 - 182,
    Journal articles | 2020
    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, 22, pp. 1623 - 1632,
    Journal articles | 2020
    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, pp. 7,
    Journal articles | 2020
    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, pp. 435,
    Journal articles | 2020
    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,
    Journal articles | 2020
    Taheri M; Eghtedarian R; Dinger ME; Ghafouri-Fard S, 2020, 'Dysregulation of non-coding RNAs in Rheumatoid arthritis', Biomedicine and Pharmacotherapy, 130,
    Journal articles | 2020
    Taheri M; Eghtedarian R; Dinger ME; Ghafouri-Fard S, 2020, 'Dysregulation of non-coding RNAs in autoimmune thyroid disease', Experimental and Molecular Pathology, 117,
    Journal articles | 2020
    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,
    Journal articles | 2020
    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, pp. 1 - 22,
    Journal articles | 2020
    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, pp. 1 - 26,
    Journal articles | 2020
    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, pp. 2051 - 2063,
    Journal articles | 2020
    Van Bergen NJ; Ahmed SM; Collins F; Cowley M; Vetro A; Dale RC; Hock DH; De Caestecker C; Minal M; Massey S; Gladys H; Pisano T; Glover S; Gusman J; Stroud DA; Dinger M; Guerrini R; MacAra IG; Christodoulou J, 2020, 'Mutations in the exocyst component EXOC2 cause severe defects in human brain development', Journal of Experimental Medicine, 217, pp. e20192040,
    Journal articles | 2019
    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, 2019, 'Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection', Human Mutation, 40, pp. 374 - 379,
    Journal articles | 2019
    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, pp. 819 - 839,
    Journal articles | 2019
    Dwarte T; Barlow-Stewart K; O’Shea R; Dinger ME; Terrill B, 2019, 'Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners', Journal of Genetic Counseling, 28, pp. 378 - 387,
    Journal articles | 2019
    Ewans LJ; Colley A; Gaston-Massuet C; Gualtieri A; Cowley MJ; McCabe MJ; Anand D; Lachke SA; Scietti L; Forneris F; Zhu Y; Ying K; Walsh C; Kirk EP; Miller D; Giunta C; Sillence D; DInger M; 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, pp. 629 - 638,
    Journal articles | 2019
    Gayevskiy V; Roscioli T; Dinger M; Cowley M, 2019, 'Seave: a comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125,
    Journal articles | 2019
    Gayevskiy V; Roscioli T; Dinger ME; Cowley MJ, 2019, 'Seave: A comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125,
    Journal articles | 2019
    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, 210, pp. S30 - S32,
    Journal articles | 2019
    Lacaze P; Pinese M; Kaplan W; Stone A; Brion MJ; Woods RL; McNamara M; McNeil JJ; Dinger ME; Thomas DM, 2019, '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, pp. 308 - 316,
    Journal articles | 2019
    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, pp. 5026,
    Journal articles | 2019
    Liu Y; Yu Z; Dinger ME; Li J, 2019, 'Index suffix-prefix overlaps by (w, k)-minimizer to generate long contigs for reads compression', Bioinformatics, 35, pp. 2066 - 2074,
    Journal articles | 2019
    McCabe M; Gauthier M-E; Chan C-L; Thompson T; De Sousa S; Puttick C; Grady J; Gayevskiy V; Tao J; Ying K; Cipponi A; Deng N; Swarbrick A; Thomas M; kConFab ; Lord R; Johns A; Kohonen-Corish M; O'Toole S; Clark J; Mueller S; Gupta R; McCormack A; Dinger M; Cowley M; Bastick P; Friedlander M; Colley A; Andrews L; Young M-A; Tucker K; Williams R, 2019, 'Development and validation of a targeted gene sequencing panel for application to disparate cancers', Scientific Reports, 9, pp. 17052,
    Journal articles | 2019
    McCabe MJ; Pinese M; Chan CL; Sheriff N; Thompson TJ; Grady J; Wong M; Gauthier MEA; 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; Wong-Erasmus M, 2019, 'Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases', Cold Spring Harbor Molecular Case Studies, 5, pp. a003764,
    Journal articles | 2019
    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, 2019, 'Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy', Genetics in Medicine, 21, pp. 650 - 662,
    Journal articles | 2019
    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 M; 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; Palmer E, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552,
    Journal articles | 2019
    Puttick C; Kumar K; Davis R; Pinese M; Thomas D; Dinger M; Sue C; Cowley M, 2019, 'mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data', ,
    Journal articles | 2019
    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, pp. 1493 - 1501,
    Journal articles | 2019
    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 P-J; 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 SILVA; 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, pp. D1250 - D1251,
    Journal articles | 2019
    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, pp. D221 - D229,
    Journal articles | 2019
    Tousignant KD; Rockstroh A; Fard AT; 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, pp. 1166 - 1179,
    Journal articles | 2019
    Zammit N; Siggs OM; Gray P; King C; Christ D; Goodnow CC; Grey S; Cowley M; Craig M; Dinger M; Ziegler J; Villanueva J; Cultrone D; Brink R, 2019, 'Phospho-tuning immunity through Denisovan, modern human and mouse TNFAIP3 gene variants', bioRxiv, pp. 589507,
    Journal articles | 2019
    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, pp. 1299 - 1310,
    Journal articles | 2018
    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 of Cardiology, 72, pp. 419 - 429,
    Journal articles | 2018
    David D; Anand D; Araújo C; Gloss B; Fino J; Dinger M; Lindahl P; Pöyhönen M; Hannele L; Lavinha J, 2018, 'Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis', Experimental Eye Research, 168, pp. 161 - 170,
    Journal articles | 2018
    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, pp. 245 - 255.e5,
    Journal articles | 2018
    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, pp. 1564 - 1574,
    Journal articles | 2018
    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; Zoghbi HY; Palmer E, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11,
    Journal articles | 2018
    Gloss BS; Dinger ME, 2018, 'Realizing the significance of noncoding functionality in clinical genomics', Experimental and Molecular Medicine, 50, pp. 1 - 8,
    Journal articles | 2018
    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; Palmer E, 2018, 'Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms', Molecular Genetics and Metabolism Reports, 16, pp. 46 - 51,
    Journal articles | 2018
    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, pp. 1096 - 1110.e5,
    Journal articles | 2018
    Mattick JS; Dinger M; Schonrock N; Cowley M, 2018, 'Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing', Medical Journal of Australia, 209, pp. 197,
    Journal articles | 2018
    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, 'Response to Brodehl et al.', Genetics in Medicine, pp. 1 - 2,
    Journal articles | 2018
    Nash BM; Symes R; Goel H; Dinger ME; Bennetts B; Grigg JR; Jamieson RV, 2018, 'NMNAT1 variants cause cone and cone-rod dystrophy', European Journal of Human Genetics, 26, pp. 428 - 433,
    Journal articles | 2018
    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; Palmer E, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199,
    Journal articles | 2018
    Pinese M; Lacaze P; Rath E; Stone A; Brion M-J; Ameur A; Nagpal S; Puttick C; Husson S; Degrave D; Navin Cristina T; Silva Kahl V; Statham A; Woods R; McNeil J; Riaz M; Barr M; Nelson M; Reid C; Murray A; Shah R; Wolfe R; Atkins J; Fitzsimmons C; Cairns H; Green M; Carr V; Cowley M; Pickett H; James P; Powell J; Kaplan W; Gibson G; Gyllensten U; Cairns M; McNamara M; Dinger M; Thomas D, 2018, 'The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly', bioRxiv, pp. 473348,
    Journal articles | 2018
    Signal B; Gloss BS; Dinger ME; Mercer TR, 2018, 'Machine learning annotation of human branchpoints', Bioinformatics, 34, pp. 920 - 927,
    Journal articles | 2018
    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, pp. 631 - 637,
    Journal articles | 2017
    Barry G; Briggs JA; Hwang DW; Nayler SP; Fortuna PRJ; Jonkhout N; Dachet F; Maag JLV; 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, pp. 40127,
    Journal articles | 2017
    Bartonicek N; Clark MB; Quek XC; Torpy JR; Pritchard AL; Maag JLV; 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, pp. 241,
    Journal articles | 2017
    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, pp. 55 - 94,
    Journal articles | 2017
    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 Journal of Rare Diseases, 12, pp. 83,
    Journal articles | 2017
    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, pp. 255 - 266,
    Journal articles | 2017
    De Sousa SMC; 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, pp. 635 - 644,
    Journal articles | 2017
    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,
    Journal articles | 2017
    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', European Journal of Human Genetics, 25, pp. 763 - 767,
    Journal articles | 2017
    Gloss BS; Signal B; Cheetham SW; Gruhl F; Kaczorowski DC; 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,
    Journal articles | 2017
    Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A; Palmer E, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933,
    Journal articles | 2017
    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, 2017, pp. e3631,
    Journal articles | 2017
    Khoo T; Yu B; Smith J; Clarke A; Luk P; Selinger C; Mahon K; Kraitsek S; Palme C; Boyer M; Dinger M; Cowley M; O’Toole S; Clark J; Gupta R, 2017, 'Somatic mutations in salivary duct carcinoma and potential therapeutic targets', Pathology, 49, pp. S105 - S105,
    Journal articles | 2017
    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, pp. 75893 - 75903,
    Journal articles | 2017
    Maag JLV; Fisher OM; Levert-Mignon A; Kaczorowski DC; Thomas ML; Hussey DJ; Watson DI; 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, pp. 1558 - 1569,
    Journal articles | 2017
    Maag JLV; 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, pp. 250,
    Journal articles | 2017
    McCabe M; Tarulli G; Laven-Law G; Matthiesson K; Meachem S; McLachlan R; Dinger M; Stanton P, 2017, 'Gonadotrophin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction', CLINICAL ENDOCRINOLOGY, 86, pp. 32 - 32,
    Journal articles | 2017
    Petrov AI; Kay SJE; Kalvari I; Howe KL; Gray KA; Bruford EA; Kersey PJ; Cochrane G; Finn RD; Bateman A; Kozomara A; Griffiths-Jones S; Frankish A; Zwieb CW; Lau BY; Williams KP; Chan PP; Lowe TM; Cannone JJ; Gutell RR; Machnicka MA; Bujnicki JM; Yoshihama M; Kenmochi N; Chai B; Cole JR; Szymanski M; Karlowski WM; Wood V; Huala E; Berardini TZ; Zhao Y; Chen R; Zhu W; Paraskevopoulou MD; Vlachos IS; Hatzigeorgiou AG; Ma L; Zhang Z; Puetz J; Stadler PF; McDonald D; Basu S; Fey P; Engel SR; Cherry JM; Volders PJ; Mestdagh P; Wower J; Clark M; Quek XC; Dinger ME, 2017, 'RNAcentral: A comprehensive database of non-coding RNA sequences', Nucleic acids research, 45, pp. D128 - D134,
    Journal articles | 2017
    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; 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, pp. 1142 - 1153.e4,
    Journal articles | 2017
    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, pp. 12 - 19,
    Journal articles | 2017
    Zeraati M; Moye AL; Wong JWH; 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, pp. 708,
    Journal articles | 2016
    Bartonicek N; Maag JLV; Dinger ME, 2016, 'Long noncoding RNAs in cancer: Mechanisms of action and technological advancements', Molecular Cancer, 15,
    Journal articles | 2016
    Bell CC; Amaral PP; Kalsbeek A; Magor GW; Gillinder KR; Tangermann P; Di Lisio L; Cheetham SW; Gruhl F; Frith J; Tallack MR; Ru KL; Crawford J; Mattick JS; Dinger ME; Perkins AC, 2016, 'The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation', Scientific Reports, 6,
    Journal articles | 2016
    Bussotti G; Leonardi T; Clark MB; Mercer TR; 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, pp. 705 - 716,
    Journal articles | 2016
    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, pp. 261 - 266,
    Journal articles | 2016
    Gloss B; Signal B; Cheetham S; Gruhl F; Kaczorowski D; Perkins A; Dinger M, 2016, 'High temporal resolution of gene expression dynamics in developing mouse embryonic stem cells', ,
    Journal articles | 2016
    Gloss BS; Dinger ME, 2016, 'The specificity of long noncoding RNA expression', Biochimica et Biophysica Acta - Gene Regulatory Mechanisms, 1859, pp. 16 - 22,
    Journal articles | 2016
    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, pp. 265 - 270,
    Journal articles | 2016
    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, pp. 79217 - 79232,
    Journal articles | 2016
    Maag JLV; Panja D; Sporild I; Patil SS; Kaczorowski DC; Bramham CR; Dinger ME; Wibrand K, 2016, 'Corrigendum to Dynamic expression of long noncoding RNAs and repeat elements in synaptic plasticity [Front. Neurosci. (2015), 9:351. doi: 10.3389/fnins.2015.00351]', Frontiers in Neuroscience, 10,
    Journal articles | 2016
    Maag JLV; Panja D; Sporild I; Patil SS; Kaczorowski DC; Bramham CR; Dinger ME; Wibrand K, 2016, 'Dynamic expression of long noncoding RNAs and repeat elements in synaptic plasticity (vol 9, 351, 2015)', FRONTIERS IN NEUROSCIENCE, 10,
    Journal articles | 2016
    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, pp. 1584 - 1590,
    Journal articles | 2016
    McCabe MJ; Foo CFH ; Dinger ME; Smooker PM; Stanton PG, 2016, 'Claudin-11 and occludin are major contributors to Sertoli cell tight junction function, in vitro', Asian Journal of Andrology, 18, pp. 620 - 626,
    Journal articles | 2016
    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, pp. 875 - 886,
    Journal articles | 2016
    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; Artiguenave 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 leukaemia responding to hypomethylating agents', Nature Communications, 7,
    Journal articles | 2016
    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 PAW; Montgomery GW, 2016, 'Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339', Human Molecular Genetics, 25, pp. 5046 - 5058,
    Journal articles | 2016
    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 PAW; Montgomery GW, 2016, 'Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339.', Hum Mol Genet, 25, pp. 5046 - 5058,
    Journal articles | 2016
    Signal B; Gloss BS; Dinger ME, 2016, 'Computational Approaches for Functional Prediction and Characterisation of Long Noncoding RNAs', Trends in Genetics, 32, pp. 620 - 637,
    Journal articles | 2016
    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, pp. 8663 - 8675,
    Journal articles | 2016
    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, 2016, 'Identification of a novel fusion transcript between human relaxin-1 (RLN1) and human relaxin-2 (RLN2) in prostate cancer', Molecular and Cellular Endocrinology, 420, pp. 159 - 168,
    Journal articles | 2016
    Thomson DW; Dinger ME, 2016, 'Endogenous microRNA sponges: Evidence and controversy', Nature Reviews Genetics, 17, pp. 272 - 283,
    Journal articles | 2016
    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 Noncoding RNA SPRIGHTLY Regulates Cell Proliferation in Primary Human Melanocytes', Journal of Investigative Dermatology, 136, pp. 819 - 828,
    Journal articles | 2015
    Clark MB; Mercer TR; Bussotti G; Leonardi T; Haynes KR; Crawford J; Brunck ME; Cao KAL; Thomas GP; Chen WY; Taft RJ; Nielsen LK; Enright AJ; Mattick JS; Dinger ME, 2015, 'Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing', Nature Methods, 12, pp. 339 - 342,
    Journal articles | 2015
    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, 2015, 'Erratum: Effects of a novel long noncoding RNA, lncUSMycN, on N-Myc expression and neuroblastoma progression (Journal of the National Cancer Institute (2014) 106:7 (dju113) DOI: 10.1093/jnci/dju113)', Journal of the National Cancer Institute, 107,
    Journal articles | 2015
    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,
    Journal articles | 2015
    Mercer TR; Clark MB; Andersen SB; Brunck ME; Haerty W; Crawford J; Taft RJ; Nielsen LK; Dinger ME; Mattick JS, 2015, 'Genome-wide discovery of human splicing branchpoints', Genome Research, 25, pp. 290 - 303,
    Journal articles | 2015
    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; Palmer E, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186,
    Journal articles | 2015
    Petrov AI; Kay SJE; Gibson R; Kulesha E; Staines D; Bruford EA; Wright MW; Burge S; Finn RD; Kersey PJ; Cochrane G; Bateman A; Griffiths-Jones S; Harrow J; Chan PP; Lowe TM; Zwieb CW; Wower J; Williams KP; Hudson CM; Gutell R; Clark MB; Dinger M; Quek XC; Bujnicki JM; Chua NH; Liu J; Wang H; Skogerbø G; Zhao Y; Chen R; Zhu W; Cole JR; Chai B; Huang HD; Huang HY; Cherry JM; Hatzigeorgiou A; Pruitt KD, 2015, 'RNAcentral: An international database of ncRNA sequences', Nucleic Acids Research, 43, pp. D123 - D129,
    Journal articles | 2015
    Quek XC; Thomson DW; Maag JLV; Bartonicek N; Signal B; Clark MB; Gloss BS; Dinger ME, 2015, 'LncRNAdb v2.0: Expanding the reference database for functional long noncoding RNAs', Nucleic Acids Research, 43, pp. D168 - D173,
    Journal articles | 2015
    Quek XC; Thomson DW; Maag JLV; Bartonicek N; Signal B; Clark MB; Gloss BS; Dinger ME, 2015, 'lncRNAdb v2.0: Expanding the reference database for functional long noncoding RNAs', Nucleic Acids Research, 43, pp. D168 - D173,
    Journal articles | 2015
    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, pp. 1,
    Journal articles | 2014
    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, pp. 60 - 70,
    Journal articles | 2014
    Bauer DC; 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, pp. 479 - 486,
    Journal articles | 2014
    Bauer DC; 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, pp. 479 - 486,
    Journal articles | 2014
    Dinger ME, 2014, 'Long non-coding RNAs in disease and development', Pathology, 46, pp. S26 - S26,
    Journal articles | 2014
    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', Journal of the National Cancer Institute, 106, pp. dju113,
    Journal articles | 2014
    Mattick JS; Dziadek MA; Terrill BN; Kaplan W; Spigelman AD; Bowling FG; Dinger ME, 2014, 'The impact of genomics on the future of medicine and health', Medical Journal of Australia, 201, pp. 17 - 20,
    Journal articles | 2014
    Mazar J; Zhao W; Khalil AM; Lee B; Shelley J; Govindarajan SS; Yamamoto F; Ratnam M; Aftab MN; 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, pp. 8959 - 8969,
    Journal articles | 2014
    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, pp. 989 - 1009,
    Journal articles | 2014
    Tee EL; Ling D; Nelson C; Atmadibrata B; Dinger M; 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, pp. 1793 - 1804,
    Journal articles | 2014
    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, pp. 316,
    Journal articles | 2014
    Vogelzang A; McGuire HM; Liu SM; Gloss B; Mercado K; Earls P; Dinger ME; Batten M; Sprent J; King C, 2014, 'IL-21 contributes to fatal inflammatory disease in the absence of Foxp3+ T regulatory cells', Journal of Immunology, 192, pp. 1404 - 1414,
    Journal articles | 2013
    Amaral PP; Dinger ME; Mattick JS, 2013, 'Non-coding RNAs in homeostasis, disease and stress responses: An evolutionary perspective', Briefings in Functional Genomics, 12, pp. 254 - 278,
    Journal articles | 2013
    Cheetham SW; Gruhl F; Mattick JS; Dinger ME, 2013, 'Long noncoding RNAs and the genetics of cancer', British Journal of Cancer, 108, pp. 2419 - 2425,
    Journal articles | 2013
    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,
    Journal articles | 2013
    Dinger M; Mattick JS, 2013, 'The extent of functionality in the human genome.', The HUGO Journal, 7, pp. 1 - 4,
    Journal articles | 2013
    Herschkowitz JI; Coarfa C; Prat A; Toneff MJ; Hoadley KA; Dinger ME; Mattick JS; Mani SA; Perou CM; Rosen JM, 2013, 'The role of long noncoding RNAs in epithelial to mesenchymal transition and cancer stem cells', MOLECULAR CANCER RESEARCH, 11,
    Journal articles | 2013
    Li JL; Mazar 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 methylated CpG island profiles of melanoma cells reveal a melanoma coregulation network', Scientific Reports, 3,
    Journal articles | 2013
    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, pp. 15 - 25,
    Journal articles | 2012
    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,
    Journal articles | 2012
    Clark M; 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, pp. 885 - 898,
    Journal articles | 2012
    Gascoigne DK; Cheetham SW; Cattenoz PB; Clark M; Amaral PP; Taft R; 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, pp. 3042 - 3050,
    Journal articles | 2012
    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', Nature Biotechnology, 30, pp. 99 - 104,
    Journal articles | 2012
    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 Genetics, 8, pp. e1002840,
    Journal articles | 2012
    Smart CE; Askarian-amiri ME; Wronski A; Dinger ME; Crawford JA; Ovchinnikov DA; Vargas AC; Reid LE; Simpson PT; Song S; Wiesner C; French JD; Dave RK; da Silva L; Purdon AS; Andrew M; Mattick JS; Lakhani SR; 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, pp. e40742,
    Journal articles | 2011
    Amaral PP; Clark MB; Gascoigne DK; Dinger ME; Mattick JS, 2011, 'LncRNAdb: A reference database for long noncoding RNAs', Nucleic Acids Research, 39,
    Journal articles | 2011
    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, pp. 878 - 891,
    Journal articles | 2011
    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 HDA; Kelly KA; Kersey P; Kozomara ANA; 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, pp. 1941 - 1946,
    Journal articles | 2011
    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, pp. 5658 - 5668,
    Journal articles | 2011
    Clark MB; Amaral PP; Schlesinger FJ; Dinger ME; Taft R; Rinn JL; Ponting CP; Stadler PF; Morris K; Morillon A; Rozowsky JS; Gerstein MB; Wahlestedt C; Hayashizaki Y; Carninci P; Gingeras TR; Mattick JS, 2011, 'The reality of pervasive transcription', PLoS Biology, 9, pp. e1000625,
    Journal articles | 2011
    Dinger ME; Gascoigne DK; Mattick JS, 2011, 'The evolution of RNAs with multiple functions', Biochimie, 93, pp. 2013 - 2018,
    Journal articles | 2011
    Dinger ME, 2011, 'LncRNAs: Finding the forest among the trees?', Molecular Therapy, 19, pp. 2109 - 2111,
    Journal articles | 2011
    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 Research, 71, pp. 3852 - 3862,
    Journal articles | 2011
    Mercer TR; Neph S; Dinger ME; Crawford J; Smith MA; Shearwood AMJ; Haugen E; Bracken CP; Rackham O; Stamatoyannopoulos JA; Filipovska A; Mattick JS, 2011, 'The human mitochondrial transcriptome', Cell, 146, pp. 645 - 658,
    Journal articles | 2011
    Mercer TR; Wilhelm D; Dinger ME; Soldà G; Korbie DJ; Glazov EA; Truong V; Schwenke M; Simons C; Matthaei KI; Saint R; Koopman P; Mattick JS, 2011, 'Expression of distinct RNAs from 3′ untranslated regions', Nucleic Acids Research, 39, pp. 2393 - 2403,
    Journal articles | 2010
    Dinger ME; Arefin AS; Berretta R; Moscato P, 2010, 'P4‐086: The Hippocampal Expression of 31 Noncoding Rnas is Upregulated in Alzheimer'S Disease Patients and Three Positively Correlate With MMSE Results and Other Biomarkers of Disease Progression', Alzheimer's & Dementia, 6, pp. e47 - e48,
    Journal articles | 2010
    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, pp. 1156 - 1166,
    Journal articles | 2010
    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', Molecular Genetics and Genomics, 284, pp. 1 - 9,
    Journal articles | 2010
    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, pp. 1639 - 1650,
    Journal articles | 2010
    Mercer TR; Qureshi IA; Gokhan 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,
    Journal articles | 2010
    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, pp. 221,
    Journal articles | 2010
    Taft RJ; Pang KC; Mercer TR; Dinger M; Mattick JS, 2010, 'Non-coding RNAs: Regulators of disease', Journal of Pathology, 220, pp. 126 - 139,
    Journal articles | 2009
    Dinger ME; Amaral PP; Mercer TR; Mattick JS, 2009, 'Pervasive transcription of the eukaryotic genome: Functional indices and conceptual implications', Briefings in Functional Genomics and Proteomics, 8, pp. 407 - 423,
    Journal articles | 2009
    Dinger ME; Pang KC; Mercer TR; Crowe ML; Grimmond SM; Mattick JS, 2009, 'NRED: A database of long noncoding RNA expression', Nucleic Acids Research, 37,
    Journal articles | 2009
    Mattick JS; Amaral PP; Dinger ME; Mercer TR; Mehler MF, 2009, 'RNA regulation of epigenetic processes', BioEssays, 31, pp. 51 - 59,
    Journal articles | 2009
    Mercer TR; Dinger ME; Mattick JS, 2009, 'Long non-coding RNAs: Insights into functions', Nature Reviews Genetics, 10, pp. 155 - 159,
    Journal articles | 2009
    Pang KC; Dinger ME; Mercer TR; Malquori L; Grimmond SM; Chen W; Mattick JS, 2009, 'Genome-wide identification of long noncoding RNAs in CD8+ T cells', Journal of Immunology, 182, pp. 7738 - 7748,
    Journal articles | 2009
    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 Research, 19, pp. 347 - 359,
    Journal articles | 2008
    Amaral PP; Dinger ME; Mercer TR; Mattick JS, 2008, 'The eukaryotic genome as an RNA machine', Science, 319, pp. 1787 - 1789,
    Journal articles | 2008
    Dinger ME; Amara 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, pp. 1433 - 1445,
    Journal articles | 2008
    Dinger ME; Mercer TR; Mattick JS, 2008, 'RNAs as extracellular signaling molecules', Journal of Molecular Endocrinology, 40, pp. 151 - 159,
    Journal articles | 2008
    Dinger ME; Pang KC; Mercer TR; Mattick JS, 2008, 'Differentiating protein-coding and noncoding RNA: Challenges and ambiguities', PLoS Computational Biology, 4,
    Journal articles | 2008
    Mattick JS; Croft LJ; Pheasant M; Mercer TR; Dinger ME, 2008, 'The mammalian genome as an RNA machine', FASEB JOURNAL, 22,
    Journal articles | 2008
    Mercer TR; Dinger ME; Mariani J; Kosik KS; Mehler MF; Mattick JS, 2008, 'Noncoding RNAs in long-term memory formation', Neuroscientist, 14, pp. 434 - 445,
    Journal articles | 2008
    Mercer TR; Dinger ME; Sunkin SM; Mehler MF; Mattick JS, 2008, 'Specific expression of long noncoding RNAs in the mouse brain', Proceedings of the National Academy of Sciences of the United States of America, 105, pp. 716 - 721,
    Journal articles | 2007
    Mattick JS, 2007, 'The human genome as an RNA machine', Scientist, 21, pp. 61 - 63
    Journal articles | 2007
    Pang KC; Stephen S; Dinger ME; Engström PG; Lenhard B; Mattick JS, 2007, 'RNAdb 2.0 - An expanded database of mammalian non-coding RNAs', Nucleic Acids Research, 35,
    Journal articles | 2006
    Perkins A; Bruce S; Dinger M; Gardiner B; Steptoe A; Burke L; Mattick J; Grimmond S, 2006, 'Transcription factors, non-coding RNAs and ES cell differentiation in vitro and in vivo', TRANSGENIC RESEARCH, 15, pp. 778 - 778,
    Journal articles | 2002
    Musgrave D; Zhang X; Dinger M, 2002, 'Archaeal genome organization and stress responses: Implications for the origin and evolution of cellular life', Astrobiology, 2, pp. 241 - 253,
    Journal articles | 2000
    Dinger ME; Baillie GJ; Musgrave DR, 2000, 'Growth phase-dependent expression and degradation of histones in the thermophilic archaeon Thermococcus zilligii', Molecular Microbiology, 36, pp. 876 - 885,
    Journal articles | 2000
    Dinger ME; Musgrave DR, 2000, 'Identification of archaeal genes encoding a novel stationary phase- response protein', Biochimica et Biophysica Acta - Gene Structure and Expression, 1490, pp. 115 - 120,
    Journal articles | 1999
    Remaley AT; Rust S; Rosier M; Knapper C; Naudin L; Broccardo C; Peterson KM; Koch C; Arnould I; Prades C; Duverger N; Funke H; Assman G; Dinger M; Dean M; Chimini G; Santamarina-Fojo S; Fredrickson DS; Denefle P; Brewer HB, 1999, 'Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred', PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 96, pp. 12685 - 12690,
  • Preprints | 2024
    Holliday H; Khan A; Ehteda A; Ross S; Jayatilleke N; Gopalakrishnan A; Guo X; Liu J; Nguyen H; Lee A; Sanguino YC; Dinger M; Mayoh C; Rayner B; Tsoli M; Ziegler D, 2024, Chromatin remodeling with combined FACT and BET inhibition disrupts oncogenic transcription in Diffuse Midline Glioma,
    Preprints | 2024
    Su Z; Fang M; Smolnikov A; Dinger M; Oates E; Vafaee F, 2024, Multifaceted Representation of Genes via Deep Learning of Gene Expression Networks,
    Preprints | 2024
    Su Z; Fang M; Smolnikov A; Vafaee F; Dinger M; Oates E, 2024, Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes,
    Preprints | 2023
    Ross S; Vázquez-Marín J; Gert KRB; González-Rajal Á; Dinger M; Pauli A; Martínez-Morales JR; Bogdanovic O, 2023, Evolutionary conservation of embryonic DNA methylome remodelling in distantly related teleost species,
    Other | 2023
    Tousignant KD; Rockstroh A; Taherian Fard A; Lehman ML; Wang C; McPherson SJ; Philp LK; Bartonicek N; Dinger ME; Nelson CC; Sadowski MC, 2023, Supplemental Files from Lipid Uptake Is an Androgen-Enhanced Lipid Supply Pathway Associated with Prostate Cancer Disease Progression and Bone Metastasis, ,
    Other | 2023
    Tousignant KD; Rockstroh A; Taherian Fard A; Lehman ML; Wang C; McPherson SJ; Philp LK; Bartonicek N; Dinger ME; Nelson CC; Sadowski MC, 2023, Supplemental Files from Lipid Uptake Is an Androgen-Enhanced Lipid Supply Pathway Associated with Prostate Cancer Disease Progression and Bone Metastasis, ,
    Other | 2023
    Tousignant KD; Rockstroh A; Taherian Fard A; Lehman ML; Wang C; McPherson SJ; Philp LK; Bartonicek N; Dinger ME; Nelson CC; Sadowski MC, 2023, Supplementary Data from Lipid Uptake Is an Androgen-Enhanced Lipid Supply Pathway Associated with Prostate Cancer Disease Progression and Bone Metastasis, ,
    Other | 2023
    Tousignant KD; Rockstroh A; Taherian Fard A; Lehman ML; Wang C; McPherson SJ; Philp LK; Bartonicek N; Dinger ME; Nelson CC; Sadowski MC, 2023, Supplementary Data from Lipid Uptake Is an Androgen-Enhanced Lipid Supply Pathway Associated with Prostate Cancer Disease Progression and Bone Metastasis, ,
    Preprints | 2022
    Peña Martinez CD; Zeraati M; Rouet R; Mazigi O; Gloss B; Chan C-L; Bryan T; Smith N; Dinger M; Kummerfeld S; Christ D, 2022, Human genomic DNA is widely interspersed with i-motif structures,
    Conference Abstracts | 2022
    Su Z; Smolnikov A; Khazaal A; Dinger M; Oates E, 2022, 'Comprehensive characterization of early-onset skeletal muscle disease gene exon usage and splicing patterns across different developmental ages', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, Vol. 32, pp. S47 - S47,
    Conference Posters | 2022
    Wu J; Liu PY; Cheung B; Marshall G; Dinger M; Liu T, 2022, 'Abstract 6298: The novel long noncoding RNA lncNeur promotes neuroblastoma by up-regulating AURKA and Myc expression', Vol. 82, pp. 6298 - 6298,
    Conference Papers | 2022
    Wu J; Liu PY; Cheung B; Marshall G; Dinger M; Liu T, 2022, 'The novel long noncoding RNA lncNeur promotes neuroblastoma by up-regulating AURKA and Myc expression', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, LA, New Orleans, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), LA, New Orleans, 08 April 2022 - 13 April 2022,
    Conference Papers | 2022
    Wu J; Liu PY; Cheung B; Marshall G; Dinger M; Liu T, 2022, 'The novel long noncoding RNA lncNeur promotes neuroblastoma by up-regulating AURKA and Myc expression.', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, LA, New Orleans, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), LA, New Orleans, 08 April 2022 - 13 April 2022,
    Preprints | 2022
    Zammit N; Gray P; Siggs O; Yap JY; Russell A; Cultrone D; Warren J; Walters S; Brink R; Zahra D; Burnett D; Gayevskiy V; Minoche A; Ziegler J; Craig M; Wong M; Benitez-Aguirre P; Teo J; Cowley M; Dinger M; Tangye S; Burke C; Phan T; Goodnow C; Grey S, 2022, Environmental and genetic disease modifiers of haploinsufficiency of A20,
    Conference Abstracts | 2021
    Cheng Y-YK; Nunn J; Skinner J; Rambaldini B; Boughtwood T; Calma T; Brown A; Meldrum C; Dinger M; Byrne J; McCowen D; Potter J; Faires K; Cooper S; Gwynne K, 2021, 'A pathway to precision medicine for Aboriginal Australians: a study protocol', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, Vol. 132, pp. S331 - S332,
    Preprints | 2020
    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, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data,
    Conference Papers | 2020
    Mondal S; Wong M; Tee A; Ho N; Ziegler DS; Marshall GM; Liu PY; Dinger M; Liu T, 2020, 'The super-enhancer driven long noncoding RNA lncNB promotes neuroblastoma tumorigenesis', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, ELECTR NETWORK, presented at AACR Annual Meeting, ELECTR NETWORK, 22 June 2020 - 24 June 2020,
    Other | 2019
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; 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; Palmer E, 2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), Elsevier,
    Conference Abstracts | 2019
    Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019,
    Conference Abstracts | 2018
    Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Barratt-Ross S; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C, 2018, 'Whole genome sequencing improves genetic testing outcomes in hypertrophic cardiomyopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 843 - 844, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018,
    Conference Abstracts | 2018
    Barnett CP; Byrne AB; Arts P; Feng J; Wang PS; Schrieber A; Brautigan P; Babic M; Waters W; Pais L; Yu S; Lipsett J; Moore L; Manton N; Khong Y; Luddington E; Thompson E; Liebelt J; McGregor L; Dinger M; MacArthur DG; King-Smith S; Hahn C; Kassahn K; Scott H, 2018, 'The Genomic Autopsy Study: using genomics as an adjunct to standard autopsy to unlock the cause of complex fetal and neonatal presentations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 832 - 833, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018,
    Conference Abstracts | 2018
    Hirani R; Hobbs M; Statham A; Dinger M; Irving DO, 2018, 'Are There Genetic Variants to Explain the Phenomenon of Donor Cell Survival Following Blood Transfusion?', in TRANSFUSION, WILEY, MA, Boston, Vol. 58, pp. 146A - 146A, presented at AABB Annual Meeting, MA, Boston, 13 October 2018 - 16 October 2018,
    Conference Abstracts | 2018
    Hollway G; Bakshi M; Colley A; Ewans L; Ohnesorg T; Lee E; Kirk E; Lau C; Wu K; Richardson E; Statham A; Burnett L; Lundie B; Dinger M, 2018, 'Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12,
    Preprints | 2018
    Lacaze P; Pinese M; Kaplan W; Stone A; Brion M-J; Woods RL; McNamara M; McNeil JJ; Dinger ME; Thomas DM, 2018, The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design,
    Conference Abstracts | 2018
    Lundie B; Ewans L; Lee E; Hollway G; Ohnesorg T; Statham A; Burnett L; Young M; Taouk H; Richardson E; Dinger M, 2018, 'Utility of clinical Whole Genome Sequencing (WGS): diagnostic success factors now and into the future', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 542 - 542, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018,
    Conference Abstracts | 2018
    Lundie B; Minoche AE; Gayevskiy V; Lee E; Ewans L; Hollway G; Ohnesorg T; Sherstyuk A; Dinger M; Cowley MJ; Burnett L, 2018, 'Clinical utility of copy number variant (CNV) detection by whole genome sequencing (WGS)', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 502 - 502, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018,
    Conference Abstracts | 2018
    McCabe MJ; Pinese M; Sheriff N; Fazekas M; McCormack AI; Dinger ME; Cowley MJ, 2018, 'Whole genome - and targeted capture - sequencing analysis of dual lung metastases and circulating tumour DNA (ctDNA) in a rare Primary Adrenocortical Carcinoma (ACC) case', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12,
    Conference Abstracts | 2018
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche A; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger ME; Rosenfeld JA; Xiao R; Cho MT; Henderson LB; Sacoto MJG; Begtrup A; Hamad M; Shinawi M; Andrews M; Jones MC; Lindstrom K; Kayani S; Snyder M; Villanueva M; Schteinschnaider A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko L; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2018, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 213 - 214, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018,
    Conference Papers | 2018
    Tee AE; Liu PY; Milazzo G; Hannan KM; Maag J; Bartonicek N; Song R; Jiang CC; Zhang XD; Norris MD; Haber M; Marshall GM; Li J; Vandesompele J; Mattick JS; Mestdagh P; Perini G; Hannan RD; Dinger ME; Liu T, 2018, 'Eradication of neuroblastoma by suppressing the expression of a single noncoding RNA', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, IL, Chicago, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), IL, Chicago, 14 April 2018 - 18 April 2018,
    Preprints | 2017
    Deveson I; Brunck M; Blackburn J; Tseng E; Hon T; Clark T; Clark M; Crawford J; Dinger M; Nielsen L; Mattick J; Mercer T, 2017, Universal alternative splicing of noncoding exons,
    Conference Papers | 2017
    Groza T; Roscioli T; Baynam G; Dawkins H; Haendel M; Mungall C; Smedley D; Robinson P; Dinger M; Zankl A, 2017, 'Patient Archive: A platform for clinical deep phenotyping', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, DENMARK, Copenhagen, pp. 703 - 703, presented at 50th European-Society-of-Human-Genetics (ESHG) Conference, DENMARK, Copenhagen, 27 May 2017 - 30 May 2017,
    Conference Presentations | 2017
    Pinese M; Lacaze P; Rath E; Chuah A; Degrave D; Husson S; Kaplin W; Andrews D; Barr M; Thomas D; Dinger M, 2017, 'The Medical Genome Reference Bank – Deep genomics of a disease-depleted, elderly Australian population', presented at ComBio2017, Adelaide, -
    Conference Papers | 2016
    Fisher OM; Maag JL; Levert-Mignon A; Kaczorowski DC; Thomas M; Hussey DJ; Watson DI; Wettstein A; Bobryshev YV; Edwards M; Dinger ME; Lord RV, 2016, 'Whole Transcriptome Sequencing Reveals Previously Unrecognized Alterations in Barrett's Esophagus and Esophageal Adenocarcinoma', in GASTROENTEROLOGY, W B SAUNDERS CO-ELSEVIER INC, CA, San Diego, pp. S854 - S854, presented at 57th Annual Meeting and Residents Fellow Conference of the Society-for-Surgery-of-the-Alimentary-Tract (SSAT) / 52nd Annual Meeting on Digestive Disease Week (DDW) / Meeting of the American-Gastroenterological-Association (AGA), CA, San Diego, 21 May 2016 - 24 May 2016,
    Preprints | 2016
    Hoang VLT; Tom LN; Quek X-C; Tan J-M; Payne EJ; Lin LL; Sinnya S; Raphael AP; Lambie D; Frazer IH; Dinger ME; Soyer HP; Prow TW, 2016, RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers,
    Preprints | 2016
    Hoang VLT; Tom LN; Quek X-C; Tan J-M; Payne EJ; Lin LL; Sinnya S; Raphael AP; Lambie D; Frazer IH; Dinger ME; Soyer HP; Prow TW, 2016, RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers, ,
    Conference Papers | 2016
    Kumar M; DeVaux RS; Shen JJ; Davis SP; Dinger ME; Mattick JS; Perou CM; Rosen JM; Mani SA; Herschkowitz JI, 2016, 'LncRNA AK001796 as a therapeutic target in aggressive breast cancers', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, LA, New Orleans, presented at 107th Annual Meeting of the American-Association-of-Cancer-Research (AACR), LA, New Orleans, 16 April 2016 - 20 April 2016,
    Conference Abstracts | 2016
    Loetsch C; Warren J; Parsons J; Buske F; Dinger M; King C, 2016, 'Regulation of immune response genes by endogenous retroviruses', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 69 - 69, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016,
    Conference Abstracts | 2016
    McCabe M; Cowley M; De Sousa S; Pinese M; Gayevskiy V; Minoche A; McCormack A; Dinger M, 2016, 'Establishment of the Southern Hemisphere's First Clinically Accredited Whole Genome Sequencing Facility, and the Development of a Gene Sequencing Panel for Application to Disparate Cancer Types Including Pituitary', in HORMONE RESEARCH IN PAEDIATRICS, KARGER, Vol. 86, pp. 35 - 35,
    Preprints | 2016
    Signal B; Gloss BS; Dinger ME; Mercer TR, 2016, Machine-learning annotation of human splicing branchpoints,
    Conference Papers | 2016
    Tee AE; Liu PY; Milazzo G; Vandesompele J; Marshall GM; Perini G; Mestdagh P; Dinger M; Liu T, 2016, 'Eradication of neuroblastoma by suppressing the expression of a single long noncoding RNA', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, LA, New Orleans, presented at AACR 107th Annual Meeting on Bioinformatics and Systems Biology, LA, New Orleans, 16 April 2016 - 20 April 2016,
    Conference Posters | 2015
    Gray P; Buckley M; Ziegler J; Lo W; Elakise G; Mackintosh R; Mullan G; O'Brien T; Walsh C; Minoche A; Zhu Y; Gayevskiy V; Lee E; Cowley M; Dinger M; Roscioli T, 2015, 'MENDELIAN ERRORS ASSIST IN CALLING COPY NUMBER VARIATION FROM GENOMIC SEQUENCING DATA: AN ILLUSTRATIVE CASE OF HETEROZYGOUS FAS DELETION', Vol. 45, pp. 21 - 21,
    Conference Abstracts | 2015
    Liu PY; Tee AE; Atmadibrata B; Mestdagh P; Vandesompele J; Dinger M; Liu T, 2015, 'Eradication of neuroblastoma by suppressing the expression of a single long noncoding RNA', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, MA, Boston, Vol. 76, presented at AACR Special Conference on Noncoding RNAs and Cancer - Mechanisms to Medicines, MA, Boston, 04 December 2015 - 07 December 2015,
    Conference Presentations | 2015
    McCabe M; De Sousa S; Cowley M; Dinger M; McCormack A, 2015, 'Next generation sequencing: towards a new clinical frontier in the diagnosis and treatment of pituitary tumours', Vol. 35, presented at European Society of Paediactric Endocrinology, Barcelona, 01 February 2015 - 01 February 2015,
    Conference Presentations | 2015
    McCabe M; Lam A; Thompson T; Dinger M; McCormack A, 2015, 'Loss-of-function germline FGFR1 mutation identified in a patient with prolactinoma', presented at Endocrine Society of Australia, Annual Scientific Meeting, Adelaide, 01 January 2015 - 01 January 2015
    Conference Abstracts | 2015
    Tee AE; Liu P; Maag J; Song R; Li J; Cheung BB; Haber M; Norris MD; Marshall GM; Dinger M; Liu T, 2015, 'The long noncoding RNA MALAT1 promotes hypoxia-driven angiogenesis by upregulating pro-angiogenic gene expression in neuroblastoma cells', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, PA, Philadelphia, Vol. 75, presented at 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR), PA, Philadelphia, 18 April 2015 - 22 April 2015,
    Conference Abstracts | 2015
    Zhao W; Mazar J; Lee B; Sawada J; Li J-L; Shelley J; Govindarajani S; Towler D; Mattick JS; Komatsu M; Dinger ME; Perera RJ, 2015, 'The long noncoding RNA SPRIGHTLY regulates cell proliferation in primary human melanocytes', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, MA, Boston, Vol. 76, presented at AACR Special Conference on Noncoding RNAs and Cancer - Mechanisms to Medicines, MA, Boston, 04 December 2015 - 07 December 2015,
    Conference Papers | 2014
    Clark MB; Mercer TR; Leonardi T; Bussotti G; Crawford J; Nielsen LK; Enright AJ; Ponting CP; Dinger ME; Mattick JS, 2014, 'Quantitative gene expression profiling with targeted RNA sequencing', in FEBS JOURNAL, WILEY-BLACKWELL, FRANCE, Paris, pp. 45 - 45, presented at FEBS EMBO 2014 Conference, FRANCE, Paris, 30 August 2014 - 04 September 2014,
    Conference Papers | 2014
    Constantinescu L; Cowley M; Ying K; Budd P; Lin D; Kaplan W; Dinger M, 2014, 'Implementing a clinical genomics infrastructure to sequence 18,000 human genomes per year', in CEUR Workshop Proceedings, pp. 26 - 27
    Conference Abstracts | 2014
    Gray P; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Cowley M; Dinger M; Buckley M; Ziegler J; Tangye S; Roscioli T, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, Vol. 34, pp. S499 - S500, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014,
    Conference Abstracts | 2014
    Gray PE; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Kashef S; Cowley M; Dinger M; Buckley MF; Ziegler JB; Roscioli T, 2014, 'A SUCCESSFUL APPLICATION OF NEXT GENERATION SEQUENCING TO THE DIAGNOSIS OF ADAPTIVE PRIMARY IMMUNODEFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, Vol. 44, pp. 10 - 10,
    Conference Papers | 2014
    Zhao W; Mazar J; Lee B; Shelley J; Govindarajan SS; Dinger ME; Perera RJ, 2014, 'The molecular function of the long noncoding RNA SPRY4-IT1 in human melanocytes', in FEBS JOURNAL, WILEY-BLACKWELL, FRANCE, Paris, pp. 399 - 399, presented at FEBS EMBO 2014 Conference, FRANCE, Paris, 30 August 2014 - 04 September 2014,
    Conference Papers | 2013
    Liu PY; Tee A; Marshall G; Polly P; Wong M; Ling D; Kavallaris M; Perini G; Dinger ME; Liu T, 2013, 'Linc367, a novel long intergenic noncoding RNA, up-regulates N-Myc gene expression and neuroblastoma cell proliferation', in EUROPEAN JOURNAL OF CANCER, ELSEVIER SCI LTD, NETHERLANDS, Amsterdam, pp. S356 - S356, presented at European Cancer Congress 2013 - 17th ECCO / 38th ESMO / 32nd ESTRO, NETHERLANDS, Amsterdam, 27 September 2013 - 01 October 2013,
    Conference Papers | 2013
    Perera RJ; Zhao W; Mazar J; Li J-L; Brill L; Ratnam M; Khalil AM; Dinger ME; Mattick JS, 2013, 'Molecular function of the long noncoding RNA SPRY4-IT1 in human melanomas', in FEBS JOURNAL, WILEY-BLACKWELL, RUSSIA, Saint Petersburg, pp. 302 - 303, presented at 38th Congress of the Federation-of-European-Biochemical-Societies (FEBS), RUSSIA, Saint Petersburg, 06 July 2013 - 11 July 2013,
    Conference Papers | 2013
    Zhao W; Mazar J; Li J-L; Brill LM; Ratnam M; Khalil AM; Mattick JS; Dinger ME; Perera RJ, 2013, 'Abstract 1914: Molecular function of the long noncoding RNA SPRY4-IT1 in human melanomas.', in Cancer Research, American Association for Cancer Research (AACR), pp. 1914 - 1914, presented at Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC,
    Conference Papers | 2012
    Cossetti C; Mercer TR; Alpi E; Leonardi T; Drago D; Iraci N; Alfaro-Cervello C; Dinger ME; Dietmann S; Crawford J; Caddeo C; Garcia Verdugo M; Bachi A; Mattick JS; Pluchino S, 2012, 'Neural stem cells sort protein and RNA cargoes for export with exosomes in response to inflammation', in JOURNAL OF NEUROIMMUNOLOGY, ELSEVIER SCIENCE BV, MA, Boston, pp. 127 - 127, presented at 11th International Congress of Neuroimmunology (ISNI), MA, Boston, 04 November 2012 - 08 November 2012,
    Conference Papers | 2012
    Montgomery GW; Nyholt DR; Macgregor S; Painter JN; Luong HTT; Dinger ME; Morris AP; Treloar SA; Missmer SA; Rogers PAW; Zondervan KT, 2012, 'Identifying the Genes Associated with Endometriosis Risk on Chromosomes 1 and 7', in REPRODUCTIVE SCIENCES, SAGE PUBLICATIONS INC, pp. 141A - 141A,
    Conference Papers | 2011
    Khaitan D; Dinger ME; Mazar J; Crawford J; Smith MA; Mattick JS; Perera RJ, 2011, 'The melanoma-upregulated long noncoding RNA SPRY4-IN1 modulates apoptosis and invasion', in FEBS JOURNAL, WILEY-BLACKWELL, ITALY, Torino, pp. 88 - 88, presented at 36th FEBS Congress of the Biochemistry for Tomorrows Medicine, ITALY, Torino, 25 June 2011 - 30 June 2011,
    Conference Papers | 2009
    Dinger ME; Mercer TR; Amaral PP; Pang KC; Sunkin SM; Perkins AC; Mattick JS, 2009, 'LONG NONCODING RNAs: INSIGHTS INTO FUNCTION', in CELLULAR ONCOLOGY, IOS PRESS, SCOTLAND, Edinburgh, pp. 97 - 98, presented at 3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), SCOTLAND, Edinburgh, 01 April 2009 - 05 April 2009,
    Conference Papers | 2009
    Mercer TR; Dinger ME; Wilhelm DE; Solda GS; Koopman PA; Mattick JS, 2009, 'REGULATED INDEPENDENT EXPRESSION OF 3 ' UNTRANSLATED REGIONS IN MAMMALS', in CELLULAR ONCOLOGY, IOS PRESS, SCOTLAND, Edinburgh, pp. 112 - 112, presented at 3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), SCOTLAND, Edinburgh, 01 April 2009 - 05 April 2009,
    Conference Papers | 2007
    Mattick JS; Croft LJ; Dinger ME; Pheasant M; Makunin IV; Amiri MA; Mercer TR; Pang KC; Simons C; Taft RJ, 2007, 'The human genome as an RNA machine', in FEBS JOURNAL, BLACKWELL PUBLISHING, AUSTRIA, Vienna, pp. 15 - 15, presented at 32nd Congress of the Federation-of-European-Biochemical-Societies (FEBS), AUSTRIA, Vienna, 07 July 2007 - 12 July 2007,
    Conference Papers | 2005
    Fields D; Morrow M; Randall N; Dinger M; Knehans A, 2005, 'Freshman Fifteen: Fact or fiction?', in OBESITY RESEARCH, NORTH AMER ASSOC STUDY OBESITY, CANADA, Vancouver, pp. A66 - A66, presented at Annual Scientific Meeting of the North-American-Association-for-the-Study-of-Obesity (NAASO 2005), CANADA, Vancouver, 15 October 2005 - 19 October 2005,
    Conference Papers | 2003
    Beck-Sickinger AG; Dinger M; Bader J; Morl K, 2003, 'Dimerization of NPY-receptors studied by fluorescence resonance energy trans-fer in living cells', in BIOPOLYMERS, JOHN WILEY & SONS INC, MASSACHUSETTS, BOSTON, pp. 294 - 295, presented at 18th American Peptide Symposium, MASSACHUSETTS, BOSTON, 19 July 2003 - 23 July 2003,
    Conference Papers | 2003
    Beck-Sickinger AG; Dinger M; Bader J; Morl K, 2003, 'Dimerization of NPY-receptors studied by fluorescence resonance energy trans-fer in living cells', in BIOPOLYMERS, JOHN WILEY & SONS INC, MASSACHUSETTS, BOSTON, pp. 385 - 385, presented at 18th American Peptide Symposium, MASSACHUSETTS, BOSTON, 19 July 2003 - 23 July 2003,
    Conference Papers | 2001
    Hartzell-Lawson M; Dinger M, 2001, 'Proteases to increase the usability of coarse wool fibers by softening and shrinkproofing.', in ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, AMER CHEMICAL SOC, pp. U183 - U183,