Publications from the VPCC team

A selection of relevant research materials from VPCC investigators.

Jason Cain

Dr Jason Cain

Cochrane C.R., Vaghjiani V, Szczepny A, Jayasekara W.S.N, Gonzalez-Rajal A, Kikuchi K, McCaughan G.W., Burgess A, Gough D.J., Watkins D.N., Cain J.E. et al. (2020). Trp53 and Rb1 Regulate Autophagy and Ligand-Dependent Hedgehog Signaling. Journal of Clinical Investigation, 22:132513.

Marini K.D., Croucher D.R., McCloy R.A., Vaghjiani V, Gonzalez-Rajal A, Hastings J.F., Chin V, Szczepny A, Kostyrko K, Marquez C, Jayasekara W.S.N., Alamgeer M, Boolell V, Han J.Z.R., Waugh T, Lee H.C., Oakes S.R., Kumar B, Harrison C.A. … Cain, J.E. & Watkins D.N. (2018). Inhibition of activin signaling in lung adenocarcinoma increases the therapeutic index of platinum chemotherapy. Science Translational Medicine, 10(451).

SzczepnyA, Carey K, McKenzie L, Jayasekara W.S.N, Rossello F, Gonzalez-Rajal A, McCaw A.S, Popovski D, Wang D, Sadler A.J., Mahar A, Russell P.A., Wright G, McCloy R.A., Garama D.J., Gough, D.J., Stephen B. Baylin, Burgess A, Cain, J.E. & Watkins D.N. (2018). The tumor suppressor Hic1 maintains chromosomal stability independent of Tp53. Oncogene.

Ramaswamy, V, Hielscher, T, Mack S.C., Lassaletta A, Lin T, Pajtler K.W., Jones D.T.W, Luu B, Cavalli F.M.G., Aldape K, Remke M, Mynarek M, Rutkowski S, Gururangan S, McLendon R.E., Lipp E.S., Dunham C, Hukin J, Eisenstat D.D., … Cain, J.E. … Taylor M.D. (2016). Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era. Journal of Clinical Oncology, 34(21):2468-77.

Muscat A, Popovski D, Jayasekara W.S.N., Rossello F.J., Ferguson M, Marini K.D., Alamgeer M, Algar E.M., Downie P, Watkins D.N, Cain, J.E & D.M. Ashley. (2016). Low-Dose Histone Deacetylase Inhibitor Treatment Leads to Tumour Growth Arrest and Multi-lineage Differentiation of Malignant Rhadboid Tumours. Clinical Cancer Research, 22(14):3560-70.

    Prof Bruce Carleton

    Loucks C.M., Yan K, Tanoshima R, Ross C.J.D, Rassekh S.R., Carleton B.C. (2021). Pharmacogenetic testing to guide therapeutic decision-making and improve outcomes for children undergoing anthracycline-based chemotherapy. Basic Clin Pharmacol Toxicol. PMID: 33900042

    Tanoshima, R, Khan A, Biala A.K., Trueman J.N., Drögemöller B.I., Wright G.E.B., Hasbullah J.S., Groeneweg G.S.S., Ross C.J.D., Carleton, B.C. (2019). Analyses of Adverse Drug Reactions Nationwide Active Surveillance Network: Canadian Pharmacogenomics Network for Drug Safety (CPNDS) database. J Clin Pharmacol., 59(3), 356-363. PMID: 30452777

    Kowalec, K, Wright G.E.B, Drögemöller B.I., Aminkeng F, Bhavsar A.P., Kingwell E, Yoshida E.M., Traboulsee A, Marrie R.A., Kremenchutzky M, Campbell T.L, Duquette P, Chalasani N, Wadelius M, Hallberg P, Xia Z, De Jager P.L., Denny J.C., Davis M.F., …. Carleton, B.C. (2018). Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis. Nat Genet, 50(8), 1081-1085. PMID: 30013178

    Drögemöller, B.I, Monzon J.G., Bhavsar A.P. Borrie A.E., Brooks B, Wright G.E.B., Liu G, Renouf D.J., Kollmannsberger C.K., Bedard P.L., Aminkeng F, Amstutz U, Hildebrand C.A., Gunaretnam E.P., Critchley C, Chen Z, Brunham L.R., Hayden M.R., Ross C.J.D., Gelmon K.A., Carleton, B.C. (2017). Association between SLC16A5 genetic variation and cisplatin-induced ototoxic effects in adult patients with testicular cancer. JAMA Oncol, 3(11), 1558-1562. PMID: 28448657

    Aminkeng, F, Ross C.J.D, Rassekh S.R., Hwang S, Rieder M.J., Bhavsar A.P., Smith A, Sanatani S, Gelmon K.A., Bernstein D, Hayden M.R., Amstutz U, Carleton, B.C. (2016). CPNDS Clinical Practice Recommendations Group. Recommendations for Genetic Testing to Reduce the Incidence of Anthracycline-induced Cardiotoxicity. Br J Clin Pharmacol, 82(3), 683-95. PMID: 27197003.

    Bruse Carelton

    A/Prof Rachel Conyers

    Foulkes, S, Costello B.T., Howden E.J., Janssens K, Dillon H, Toro C, Claus P, Fraser S.F., Daly R.M., Elliott D.A., Conyers R, La Gerche A. (2020). Exercise CMR reveals reduced cardiac reserve in paediatric cancer survivors with impaired cardiopulmonary fitness. Journal of Cardiac Magnetic Resonance Imaging, 22(1):64.

    McOwan, T.N., Craig L.A., Tripdayonis A, Karavendzas K, Cheung M.M., Porrello E.R., Conyers R, Elliott D.A. (2020). Evaluating anthracycline associated single nucleotide polymorphisms in a paediatric cohort with early onset cardiomyopathy. Cardio-Oncology, 6(5).

    Tenzin, G, Sepulveda F.E., Khuong-Quang D-A, Pratt J, Valera E.T., Garrigue A, Kelso S, Sicheri F, Mikael L.G., Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J … Conyers, R … Jabado N. (2019). Germline HAVCR2 mutations altering TIM-3 characterise subcutaneous panniculitis-like T cell Lymphoma with haemophagocytic lymphohistiocytosis. Nature Genetics, 50(12):1650-1657. Impact Factor 27.15, Citation 19. Breakthrough study identifying TIM-3 as genetic variant predisposing patients with PLTCL to HLH

    Conyers, R., Devaraja S, Elliott, D. (2018). Systematic Review of Pharmacogenomics and Adverse Drug reactions in Paediatric Oncology Patients. Pediatric Blood & Cancer, 65(4):e26937

    Tripaydonis, A, Conyers, R., Elliott, D.A. (2018). Pediatric Anthracycline induced Cardiotoxicity: Mechanisms, Pharmacogenomics and Pluripotent Stem-Cell Modelling. Clinical Pharmacology & Therapeutics, 105(3):614-624.

      Prof Roger Daly

      Ma X, Zhang L, Song J, Nguyen E, Lee R.S., Rodgers S.J., Li F., Huang C, Schittenhelm R.B., Chan H, Chheang C, Wu J, Brown K.K., Mitchell C.A., Simpson K.J.,  Daly RJ et al (2019). Characterization of the Src-regulated kinome identifies SGK1 as a key mediator of Src-induced transformation. Nat Commun. Jan 17;10(1):296.

      Patel O, Griffin M.D.W., Panjikar S, Dai W, Ma X, Chan H, Zheng C, Kropp A, Murphy J.M., Daly RJ, Lucet IS (2017). Structure of SgK223 pseudokinase reveals novel mechanisms of homotypic and heterotypic association. Nat Commun. Oct 27;8(1):1157.

      Fleuren EDG, Vlenterie M, van der Graaf W.T.A, Hillebrandt-Roeffen M.H.S, Blackburn J, Ma X, Chan H, Magias M.C., van Erp A, van Houdt L, Cebeci S.A.S, van de Ven A, Flucke U.E, Heyer E.E, Thomas D.M, Lord C.J, Marini K.D, Vaghjiani V, Mercer T.R. … Daly RJ et al (2017). Phosphoproteomic Profiling Reveals ALK and MET as Novel Actionable Targets across Synovial Sarcoma Subtypes. Cancer Res. 217 Aug 15;77(16):4279-4292.

      Zheng Y, Zhang C, Croucher D.R, Soliman M.A, St-Denis N, Pasculescu A, Taylor L, Tate S.A., Hardy W.R., Colwill K, Dai A.Y., Bagshaw R, Dennis J.W., Gingras A-C, Daly RJ, Pawson T et al (2013). Temporal regulation of EGF signalling networks by the scaffold protein Shc1. Nature. Jul 11;499(7457):166-71.

      Hochgräfe F, Zhang L, O’Toole S.A, Browne B.C., Pinese M, Cubas A.P., Lehrbach G.M., Croucher D.R., Rickwood D, Boulghourjian A, Shearer R, Nair R, Swarbrick A, Faratian D, Mullen P, Harrison D.J., Biankin A.V., Sutherland R.L., Raftery M.J. Daly RJ et al (2010). Tyrosine phosphorylation profiling reveals the signaling network characteristics of Basal breast cancer cells. Cancer Res. Nov 15;70(22):9391-401.

      Prof Tracey Danaher

      Stuart B, Danaher T.S., Awdish R, Berry L. (2019). Finding Hope and Healing When Cure is Not Possible. Mayo Clinic Proceedings, 94(4): 677-685.

      Berry L.L, Deming K.A., Danaher T.S., et al. (2018). Improving Nonclinical and Clinical-Support Services: Lessons from Oncology. Mayo Clinic Proceedings: Innovations, Quality and Outcomes, 2(3):207-217.

      Berry L.L, Danaher T.S., Beckham D, Awdish R.L.A, Mate, K. S. (2017). When Patients and Their Families Feel like Hostages to Health Care. Mayo Clinic Proceedings, 9(9):1373–1381.

      Berry L.L, Danaher T.S. Chapman R. A, Awdish, R.L. (2017). Role of Kindness in Cancer Care. Journal of Oncology Practice, 13(11):744-750.

      Danaher, T.S, Brand S.R., Pickard, L.S.S, Mack J.W., Berry L.L. (2017). How a Child with Cancer Moved from Vulnerability to Resilience. Journal of Clinical Oncology, 35(27):3169-3171.

        Dr Peter Downie

        Jayasuriya S, Peate M, Allingham C, Li N, Gillam L, Zacharin M, Downie P, Moore P, Super L, Orme L, Agresta F, Stern C, Jayasinghe Y. (2019). Satisfaction, disappointment and regret surrounding fertility preservation decisions in the paediatric and adolescent cancer population. J Assist Reprod Genet, 36(9):1805-1822.

        Hearps S, Seal M, Anderson V, McCarthy M, Connellan M, Downie P, De Luca C. (2017). The relationship between cognitive and neuroimaging outcomes in children treated for acute lymphoblastic leukemia with chemotherapy only: A systematic review. Pediatr Blood Cancer, 64(2):225-233.

        Muscat, A, Popovski D, Jayasekara W.S.N., Rossello F.J., Ferguson M, Marini K.D., Alamgeer M, Algar E.M., Downie P, Watkins D.N., Cain J.E., Ashley D.M. (2016). Low-dose histone deacetylase inhibitor treatment leads to tumor growth arrest and multi-lineage differentiation of malignant rhabdoid tumors. Clin Cancer Res.

        Bielack S.S., Smeland S, Whelan J.S., Marina N, Jovic G, Hook J.M, Krailo M.D., Gebhardt M, Pápai Z, Meyer J, Nadel H, Randall R.L., Deffenbaugh C, Nagarajan R, Brennan B, Letson G.D., Teot L.A., Goorin A, Baumhoer D … Euramos Investigators. (2015). EURAMOS-1 investigators. Methotrexate, Doxorubicin, and Cisplatin (MAP) Plus Maintenance pegylated Interferon Alfa-2b versus MAP alone in patients with resectable high grade osteosarcoma and good histologic response to preoperative MAP: first results of the EURAMOS-1 good response randomized controlled trial. J Clin Oncol, 33(20):2279-87.

        Greenop K.R, Bailey H.D, Miller M, Scott R.J., Attia J, Ashton L.J., Downie P, Armstrong B.K., Milne E. (2015). Breastfeeding and nutrition to 2 years of age and risk of childhood acute lymphoblastic leukemia and brain tumors. Nutr Cancer, 67(3):431-41.

        Prof David Eisenstat

        Prof David Eisenstat

        Wu, H.H., Wang B, Armstrong S.R., Abuetabh Y, Leng S, Roa W.H.Y., Atfi A, Marchese A, Wilson B, Sergi C, Flores E.R., Eisenstat D.D., Leng R.P. (2021). Hsp70 acts as a fine-switch that controls E3 Ligase CHIP-mediated TAp63 and deltaNp63 ubiquitination and degradation. Nucleic Acids Research, [Epub 22.2.2021].

        Merchant T.E., Bendel A.E., Sabin N.D., Burger P.C., Shaw D.W., Chang E, Wu S, Zhou T, Eisenstat D.D., Foreman N.K., Fuller C.E., Templeton Anderson E, Hukin J, Lau C.C., Pollack I.F., Laningham F.H., Lustig R.H., Armstrong F.D.,Handler M.H. … Ramaswamy V. (2019). Phase II trial of conformal radiation therapy for pediatric patients with localized ependymoma, chemotherapy before second surgery for incompletely resected ependymoma, and observation for completely resected, classic, supratentorial ependymoma. J Clin Oncol, 37:974-98.

        McColl H.D, Zagozewski J.L., Eisenstat DD. et al. (2019). Chromatin immunoprecipitation (ChIP) protocols for the cancer and developmental biology laboratory. Brain Tumor Stem Cells: Methods and Protocols. Methods in Molecular Biology, 1869:143-153.

        Le T.N, Zhou Q-P, Cobos I, Zhang S, Zagozewski J, Japoni S, Vriend J, Parkinson T, Du G, Rubenstein J.L., Eisenstat D.D. et al. (2017). GABAergic interneuron differentiation in the basal forebrain is mediated through direct regulation of glutamic acid decarboxylase isoforms by DLX homeobox transcription factors. J Neurosci, 37:8816-29. IF 5.7.

        Zhang, Q, Zagozewski J, Cheng S, Dixit R, Zhang S, de Melo J, Mu X, Klein W.H., Brown N.L., Wigle J.T., Schuurmans C, Eisenstat, D.D. (2017). Regulation of Brn3b by DLX1 and DLX2 is required for retinal ganglion cell differentiation in the vertebrate retina. Development, 144:1698-1711.

        A/Prof Paul Ekert

        Wong, M, Mayoh C, Lau L.M.S, Khuong-Quang D-A, Pinese M, Kumar A, Barahona P, Wilkie E.E., Sullivan P, Bowen-James R, Syed M, Martincorena I, Abascal F, Sherstyuk A, Bolanos N.A., Baber J, Priestley P, Dolman E.M.E, Fleuren E.D.G. … Ekert, P.G. & Cowley M.J. (2020). Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk paediatric cancer. Nature Medicine. DOI:10.1038/s41591-020-1072-4.

        Hansen, J. K.,  Davidson N.M., Bjelosevic S, Morrish E, Brennan M.S., Oshlack A, Johnstone R.W. Brumatti G, Khaw S.L., Ekert, P.G., et al. (2020). MLL-TFE3: a novel and aggressive KMT2A fusion identified in infant leukaemia. Blood Advances, 4:4918-4923.

        Brown L, Lonsdale A, Zhu A Davidson N.M., Schmidt B, Hawkins A, Wallach E, Martin M, Mechinaud F.M., Khaw S.L., Bartolo R.C., Ludlow L.E.A., Challis J, Brooks I, Petrovic V, Venn N.C., Sutton R, Majewski I.J., Oshlack A,  Ekert, P.G. (2020). The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemia. Blood Advances, 4: 930-942.

        Khuong-Quang D.A,  Brown L.M., Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow L.E., Gifford A.J., Rodriguez M, Desai J, Fox S.B., Haber M, Ziegler D.S., Hansford J.R., Marshall G.M., Cowley M.J., Ekert, P.G., et al. (2020). Recurrent SPECC1L-NTRK fusions in paediatric sarcoma and brain tumours. Molecular Case Reports, 6(6). doi:10.1101/mcs.a005710.

        Narayan N, Morenos L, Phipson B, Willis S.N., Brumatti G, Eggers S, Lalaoui N, Brown L.M., Kosasih H.J., Bartolo R.C., Zhou L, Catchpoole D, Saffery R, Oshlack A, Goodall G.J., Ekert, P.G., et al. (2016). Functionally distinct roles for different miR-155 expression levels through contrasting effects on gene expression, in acute myeloid leukemia. Leukemia. doi:10.1038/leu.2016.279.


        Ron Firestein

        Prof Ron Firestein

        McCleland M, Mesh K, Lorenzana E, Chopra V.S., Segal E, Watanabe C, Haley B, Mayba O, Yaylaoglu M, Gnad F, Firestein, R. (2016). CCAT1 is an enhancer template RNA that predicts BET sensitivity in colorectal cancer. J. Clin. Invest, 126:639-52.

        Storm E, Durinck S, de Sousa e Melo F, Tremayne J, Kljavin N, Tan C, Ye X, Chiu C, Pham T, Hongo J, Bainbridge T, Firestein R, Blackwood E, Metcalfe C, Stawiski E.W., Yauch R.L., Wu Y, de Sauvage F.J. (2016). Targeted therapy directed against PTPRK-RSPO3 fusion-positive colorectal tumors inhibit stem cell function and promote differentiation. Nature, 529:97- 100.

        Daemen, A, Liu B, Song K, Kwong M, Gao M, Hong R, Nannini M, Peterson D, Liederer B.M., de la Cruz C, Sangaraju D, Jaochico A, Zhao X, Sandoval W, Hunsaker T, Firestein R, Latham S, Sampath D, Evangelista M, Hatzivassiliou G. (2018). Pan-Cancer Metabolic Signature Predicts Co-Dependency on Glutaminase and De Novo Glutathione Synthesis Linked to a High-Mesenchymal Cell State. Cell Metabolism, 28:383-399.

        Raab M, Sanhaji M, Matthess Y, Hörlin A, Lorenz I, Dötsch C, Habbe N, Waidmann O, Kurunci-Csacsko E, Firestein R, Becker S, Strebhardt K. (2018). PLK1 has tumor-suppressive potential in APC-truncated colon cancer cells. Nature Comm, 9:1106.

        Petralia, F, Tignor N, Reva B, Koptyra M, Chowdhury S, Rykunov D, Krek A, Ma W, Zhu Y, Ji J, Calinawan A, Whiteaker J.R., Colaprico A, Stathias V, Omelchenko T, Song X3, Raman P, Guo Y, Brown M.A. … Children’s Brain Tumor Network; Clinical Proteomic Tumor Analysis Consortium (2020). Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer. Cell, 183:1962-1985.

          A/Prof Jordan Hansford

          Chen, C.C.L, Deshmukh S, Jessa S, Hadjadj D, Lisi V, Andrade A.F., Faury D, Jawhar W, Dali R, Suzuki H, Pathania M, Deli A, Dubois F, Woodward E, Hébert S, Coutelier M, Karamchandani J, Albrecht S, Brandner S …, Hansford JR, …Jabado N (2020). Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis. Cell, 183(6):1617-1633.e22.

          Wong, M, Mayoh C, Lau L.M.S., Khuong-Quang D-A, Pinese M, Kumar A, Barahona P, Wilkie E.E., Sullivan P, Bowen-James R, Syed M, Martincorena I,  Abascal F, Sherstyuk A, Bolanos N.A., Baber J, Priestley P, Dolman M.E.M., Fleuren E.D.G. … Hansford, J.R. … Cowley M.J. (2020). Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer. Nat Med, 26(11):1742-1753.

          Capper D, Jones D.T.W., Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F, Chavez L, Reuss D.E., Kratz A, Wefers A.K., Huang K, Pajtler K.W., Schweizer L, Stichel D, Olar A, Engel N.W., Lindenberg K … Hansford, J.R. … Pfister, S.M. (2018). DNA methylation-based classification of central nervous system tumours. Nature, 555(7697):469-474.

          Bouffet E, Larouche V, Campbell B.B., Merico D, de Borja R, Aronson M, Durno C, Krueger J, Cabric V, Ramaswamy V, Zhukova N, Mason G, Farah R, Afzal S, Yalon M, Rechavi G, Magimairajan V, Walsh M.F., Constantini S … Hansford, J, … Tabori U. (2016). Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency. J Clin Oncol, 34(19):2206-11.

          Samuel, N, Wilson G, Lemire M, Said B.I., Lou Y, Li W, Merino D, Novokmet A, Tran J, Nichols K.E., Finlay J.L., Choufani S, Remke M, Ramaswamy V, Cavalli F.M.G., Elser C, Meister L, Taylor M.D., Tabori U … Hansford, J.R. … Malkin D. (2016). Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility. J Clin Oncol, 34(30):3697-3704.

          A/Prof Misty Jenkins

          Abbott, R.C, Cross, R.S., Jenkins, M.R., et al. (2020). Finding the keys to the CAR: identifying novel target antigens for T cell redirection immunotherapies. International J Mol Sci, 21(2):515

          Davenport A.J, Cross R.S., Watson K.A., Liao Y, Shi W, Prince H.M., Beavis P.A., Trapani J.A., Kershaw M.H., Ritchie D.S., Darcy P.K., Neeson P.J., Jenkins M.R., et al. (2018). Chimeric antigen receptor T cells form nonclassical and potent immune synapses driving rapid cytotoxicity. Proc Nat Acad Sci, 115(9):E2068-E2076.

          Jenkins M.R., Rudd-Schmidt J.A., Lopez J.A., Ramsbottom K.M., Mannering S.I., Andrews D.M., Voskoboinik I, Trapani J.A. (2015). Failed CTL/NK cell killing and cytokine hypersecretion are directly linked through prolonged synapse time. J Exp Med, 212(3):307-17. 150

          Davenport A.J, Jenkins M.R., Cross R.S., Yong C.S., Prince H.M., Ritchie D.S., Trapani J.A., Kershaw M.H., Darcy P.K., Neeson P.J. (2015). CAR-T cells inflict sequential killing of multiple tumor target cells. 2015. Cancer Immunology Research. Proc Nat Acad Sci, 3(5):483-94.

            F.E.r Dong-Anh Khuong-Quang

            Kumar, R, Smith K.S., Deng M, Terhune C, Robinson G.W., Orr B.A., Liu A.P.Y., Lin T, Billups C.A., Chintagumpala M, Bowers D.C., Hassall T.E., Hansford J.R., Khuong-Quang D-A, Crawford J.R., Bendel A.E., Gururangan S, Schroeder K, Bouffet E … Northcott P.A. (2021). Clinical Outcomes and Patient-Matched Molecular Composition of Relapsed Medulloblastoma. J Clin Oncol. 39(7):807-821. doi: 10.1200/JCO.20.01359. Epub 2021 Jan 27. PubMed PMID: 33502920; PubMed Central PMCID: PMC8078396.

            Khuong-Quang DA, Brown L.M., Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow L.E., Gifford A.J., Rodriguez M, Desai J, Fox S.B., Haber M, Ziegler D.S., Hansford J.R., Marshall G.M., Cowley M.J., Ekert P.G. (2020). Recurrent SPECC1L-NTRKfusions in pediatric sarcoma and braintumors. Cold Spring Harb Mol Case Stud, 6(6). doi: 10.1101/mcs.a005710. Print 2020 Dec. PubMed PMID: 33144287; PubMed Central PMCID: PMC7784491.

            Chen, C.C.L, Deshmukh S, Jessa S, Hadjadj D, Lisi V, Andrade A.F., Faury D, Jawhar W, Dali R, Suzuki H, Pathania M, Deli A, Dubois F, Woodward E, Hébert S, Coutelier M, Karamchandani J, Albrecht S, Brandner S …, Khuong-Quang, D.A, …Jabado N (2020). Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis. Cell, 183(6):1617-1633.e22. doi: 10.1016/j.cell.2020.11.012. Epub 2020 Nov 30. PubMed PMID: 33259802; PubMed Central PMCID: PMC7791404.

            Wong, M, Mayoh C, Lau L.M.S., Khuong-Quang D-A, Pinese M, Kumar A, Barahona P, Wilkie E.E., Sullivan P, Bowen-James R, Syed M, Martincorena I,  Abascal F, Sherstyuk A, Bolanos N.A., Baber J, Priestley P, Dolman M.E.M., Fleuren E.D.G. … Cowley M.J. (2020). . Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer. Nat Med, 26(11):1742-1753. doi: 10.1038/s41591-020-1072-4. Epub 2020 Oct 5. PubMed PMID: 33020650.

            Gayden, T, Sepulveda F.E., Khuong-Quang D-A, Pratt J, Valera E.T., Garrigue A, Kelso S, Sicheri F, Mikael L.G., Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J … Jabado N. (2018). Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. Nat Genet, 50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. PubMed PMID: 30374066.

            A/Prof Sebastian Lunke

            Australian Genomics Health Alliance Acute Care Flagship. (2020). Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Jama 323, 2503–2511.

            Stark Z., Lunke S, Brett G.R., Tan N.B., Stapleton R, Kumble S, Yeung A, Phelan D.G., Chong B, Fanjul-Fernandez M, Marum J.E., Hunter M, Jarmolowicz A, Prawer Y, Riseley J.R., Regan M, Elliott J, Martyn M, Best S, Tan T.Y., Gaff C.L. … Melbourne Genomics Health Alliance. (2018). Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genet Med 20.

            Stark Z., Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan T.Y., Gaff C.L., White S.M. (2018). Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med 18, 1090.

            Perucca, P, Scheffer I.E., Harvey A.S., James P.A., Lunke S, Thorne N, Gaff C, Regan B.M., Damiano J.A., Hildebrand M.S., Berkovic S.F., O’Brien T.J., Kwan P (2017). Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. Epilepsy Res 131, 1 8.

            Desai R., Frazier A.E., Durigon R, Patel H, Jones A.W., Dalla Rosa I, Lake N.J., Compton A.G., Mountford H.S., Tucker E.J., Mitchell A.L.R., Jackson D, Sesay A, Di Re M, van den Heuvel L.P., Burke D, Francis D, Lunke S, McGillivray G. (2017). ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain 140, 1595 1610.

              A/Prof Maria McCarthy

              McCarthy M.C., De Abreu Lourenco R, McMillan L.J., Meshcheriakova E, Cao A, Gillam L. (2020). Finding Out What Matters in Decision-Making Related to Genomics and Personalized Medicine in Pediatric Oncology: Developing Attributes to Include in a Discrete Choice Experiment. The Patient-Patient-Centered Outcomes Research, 13:347-361.

              Muscara, F, McCarthy, M.C., Rayner M, Nicholson J.M., Dimovski A, McMillan L, Hearps S.J.C., Yamada J, Burke K, Walser R, Anderson V.A. (2020). Effect of an online group intervention for traumatic stress in parents of children with life-threatening illness: A randomized clinical trial. JAMA Network Open, 3(7):e208507.

              Garas A, McLean L.A., De Luca C.R., Downie P, McCarthy, M.C. (2019). Health-related quality of life in pediatric patients up to five years post-treatment completion for acute lymphoblastic leukemia: a systematic review. Supportive Care in Cancer, 27(11):4341-4351.

              Darling S, De Luca C, Anderson V, McCarthy M, Hearps S, Seal M.L. (2018). White matter microstructure and information processing at the completion of chemotherapy-only treatment for pediatric Acute Lymphoblastic Leukemia. Developmental Neuropsychology, 43(5):385- 402.

              McCarthy M.C., McNeil R, Drew S, Dunt D, Kosola S, Orme L, Sawyer S.M. (2016). Psychological distress and posttraumatic stress symptoms in adolescents and young adults with cancer and their parents. Journal Adolescent and Young Adult Oncology, 5(4):322-329.


              A/Prof Paul Neeson

              Meyran, D, Terry R.L., Zhu J.J., Haber M, Ziegler D.S., Ekert P.G., Trapani J.A, Darcy P.K., Neeson, P.J. (2021). Early-phenotype CAR-T cells for the treatment of pediatric cancers. Ann Oncol. S0923-7534(21)02506-0. doi: 10.1016/j.annonc.2021.07.018.

              D’Souza, C, Keam S.P., Aw Yeang H.X., Neeson M, Richardson K, Hsu A.K., Canfield R, Bezman N, Robbins M, Quach H, Ritchie D.S., Harrison S.J., Trapani J.A., Prince H.M., Beavis P.A., Darcy P.K.,  Neeson, P.J.. (2021). Myeloma natural killer cells are exhausted and have impaired regulation of activation. Haematologica, 106(9):2522-2526. doi: 10.3324/haematol.2020.277525.

              Keam S.P, Halse H, Nguyen T, Wang M, Van Kooten Losio N, Mitchell C, Caramia F, Byrne D.J., Haupt S, Ryland G, Darcy P.K., Sandhu S, Blombery P, Haupt Y, Williams S.G., Neeson, P.J. (2020). High dose-rate brachytherapy of localized prostate cancer converts tumors from cold to hot. J Immunother Cancer, 8(1):e000792. doi: 10.1136/jitc-2020-000792.

              Terry R.L, Meyran D, Ziergler D.S., Haber M, Ekert P.G., Trapani J.A., Neeson, P.J., et al. (2020). Immune profiling of pediatric solid tumors. J Clin Invest, 130(7):3391-3402. doi: 10.1172/JCI137181. PMID: 32538896.

              Savas, P, Virassamy B, Ye C, Salim A, Mintoff C.P., Caramia F, Salgado R, Byrne D.J., Teo Z.L., Dushyanthen S, Byrne A, Wein L, Luen S.J., Poliness C, Nightingale S.S., Skandarajah A.S., Gyorki D.E., Thornton C.M., Beavis P.A. …  Neeson, P.J. and Loi, S. (2018). Single-cell profiling of breast cancer T cells reveals a tissue-resident memory subset associated with improved prognosis. Nat Med, 24(7):986-993. doi: 10.1038/s41591-018-0078-7.

                A/Prof Sefi Rosenbluh

                Davies, R, Liu L, Taotao S, Tuano N, Chaturvedi R, Huang K.K., Itman C, Mandoli A, Qamra A, Hu C, Powell D, Daly R.J., Tan P Rosenbluh, J. (2021). CRISPRi enables isoform specific loss-of-function screens and identification of gastric cancer specific isoform dependencies. Genome Biology, 22(1):47.

                Li T, Kim A, Rosenbluh, J, Horn H, Greenfeld L, An D, Zimmer A, Liberzon A, Bistline J, Natoli T, Li Y, Tsherniak A, Narayan R, Subramanian A, Liefeld T, Wong N, Thompson D, Calvo S, Carr S. (2017). GeNets: A unified web platform for network-based analyses of genomic data. Nature Methods, 15(7):543-546.

                Rosenbluh, J. Xu H, Harrington W, Gill S, Wang X, Vazquez F, Root D.E., Tsherniak A, Hahn W.C.. (2017). Complementary information derived from CRISPR Cas9 mediated gene deletion and suppression. Nature Communications, 8: 15403.

                Rosenbluh, J, Mercer J, Shrestha Y, Oliver R, Tamayo P, Doench J.G., Tirosh I, Piccioni F, Hartenian E, Horn H, Fagbami L, Root D.E., Jaffe J, Lage K, Boehm J.S., Hahn W.C. (2016). Integrated genetic and proteomic interrogation of WNT/β-catenin cancer dependencies. Cell Systems, 3(3):302- 316.

                Kim J.W, Botvinnik O.B., Abudayyeh O, Birger C, Rosenbluh J, Shrestha Y, Abazeed M.E., Hammerman P.S., DiCara D,  Konieczkowski D.J., Johannessen C.M., Liberzon A, Alizad-Rahvar A.R., Alexe G, Aguirre A, Ghandi M, Greulich H, Vazquez F,  Weir B.A. … Tamayo P. (2016). Characterizing genomic alterations in cancer by complementary functional associations. Nature Biotechnology, 34(5):539-546.

                Prof Melissa Southey

                Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley K.A., Parsons M.T., Fortuno C, Wang Q, Bolla M.K., Dennis J, Keeman R, Alonso M.R., Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, … Southey, M.C. … Easton D.F. (2021). Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women. N Engl J Med.

                Nguyen-Dumont T, MacInnis R.J., Steen J.A., Theys D, Tsimiklis H, Hammet F, Mahmoodi M, Pope B.J., Park D.J, Mahmood K, Severi G, Bolton D, Milne R.L., Giles G.G., Southey M.C., et al. (2020). Rare germline genetic variants and risk of aggressive prostate cancer. Int J Cancer, 147, (8), 2142-2149.

                Yang, X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning A.M., Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank M.A., Adlard J, Aittomäki K, Andrulis I.L. … Southey, M.C. … Tischkowitz M. (2020). Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol, 38, (7), 674-685.

                Joo, J.E., Dowty J.G., Milne R.L., Wong E.M., Dugué P-A, English D, Hopper J.L., Goldgar D.E., Giles G.G., Southey M.C, kConFab. (2018). Heritable DNA methylation marks associated with susceptibility to breast cancer. Nat Commun, 9(1): 867.

                Michailidou, K, Lindström S, Dennis J, Beesley J, Hui S, Kar S, Lemaçon A, Soucy P, Glubb D, Rostamianfar A, Bolla M.K., Wang Q, Tyrer J, Dicks E, Lee A, Wang Z, Allen J, Keeman R, Eilber U … Southey, M.C. … Easton, D.F. (2017). Association analysis identifies 65 new breast cancer risk loci. Nature, 551, (7678), 92-94.

                  A/Prof Lee Wong

                  Udugama M, Hii L, Garvie A, Cervini M, Vinod B, Chan F-L, Das P.P, Mann J.R., Collas P, Voon H.P.J., Wong L.H (2021). Mutations inhibiting KDM4B drive ALT activation in ATRX-mutated glioblastomas. Nature Communication, 12(1), 2584. PMID: 33972520.

                  Voon H. P. J, Udugama M, Lin W, Hii L, Law R.H.P, Steer D.L., Das P.P., Mann J.R., Wong, L.H. (2018). Inhibition of a K9/K36 demethylase by an H3.3 point mutation found in paediatric glioblastoma. Nature Communications, 9(1), 3142. PMID: 30087349.

                  Udugama M, Sanij E, Voon H.P.J., Son J, Hii L, Henson J.D., Chan F.L, Chang F.T.M, Liu Y, Pearson R.B., Kalitsis P, Mann J.R., Collas P, Hannan R.D., Wong, L.H. (2018). Ribosomal DNA copy loss and repeat instability in ATRX-mutated cancers. Proceedings of the National Academy of Sciences 115 (18), 4737-4742. PMID: 29669917.

                  Voon, H.P. & Wong, L. H. (2016) New players in heterochromatin silencing: histone variant H3.3 and the ATRX/DAXX chaperone. Nucleic Acids Res, 44(4): 1496-1501. PMID: 26773061.

                  Voon, H.P., Collas, P and Wong, L. H. (2016). Compromised heterochromatin promotes ALTernative lengthening of telomeres. Trends in Cancers, 2(3): 114-116. PMID: 28741530.