Select Publications

Journal articles

Fortuno C; Cipponi A; Ballinger ML; Tavtigian SV; Olivier M; Ruparel V; Haupt Y; Haupt S; Study ISK; Tucker K; Spurdle AB; Thomas DM; James PA, 2019, 'A quantitative model to predict pathogenicity of missense variants in the TP53 gene', Human Mutation, 40, pp. 788 - 800, http://dx.doi.org/10.1002/humu.23739

Thavaneswaran S; Rath E; Tucker K; Joshua AM; Hess D; Pinese M; Ballinger ML; Thomas DM, 2019, 'Author Correction: Therapeutic implications of germline genetic findings in cancer (Nature Reviews Clinical Oncology, (2019), 16, 6, (386-396), 10.1038/s41571-019-0179-3)', Nature Reviews Clinical Oncology, 16, pp. 397, http://dx.doi.org/10.1038/s41571-019-0212-6

Thavaneswaran S; Rath E; Tucker K; Joshua AM; Hess D; Pinese M; Ballinger ML; Thomas DM, 2019, 'Therapeutic implications of germline genetic findings in cancer', Nature Reviews Clinical Oncology, 16, pp. 386 - 396, http://dx.doi.org/10.1038/s41571-019-0179-3

Thavaneswaran S; Napier C; Goldstein D; Meiser B; Butow P; Thomas DM; Ballinger ML; Best M, 2019, 'Medical oncologists’ experience with returning molecular tumor profiling to patients.', Journal of Clinical Oncology, 37, pp. 10521 - 10521, http://dx.doi.org/10.1200/jco.2019.37.15_suppl.10521

Jones RM; Melton PE; Pinese M; Rea AJ; Ingley E; Ballinger ML; Wood DJ; Thomas DM; Moses EK, 2019, 'Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts', BMC Medical Genetics, 20, http://dx.doi.org/10.1186/s12881-019-0808-9

Vargas AC; Selinger C; Satgunaseelan L; Cooper WA; Gupta R; Stalley P; Brown W; Soper J; Schatz J; Boyle R; Thomas DM; Tattersall MHN; Bhadri V; Maclean F; Bonar SF; Scolyer RA; Karim RZ; McCarthy SW; Mahar A; O'Toole SA, 2019, 'FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center', Asia-Pacific Journal of Clinical Oncology, 15, pp. 38 - 47, http://dx.doi.org/10.1111/ajco.12980

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, http://dx.doi.org/10.1038/s41431-018-0279-z

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, http://dx.doi.org/10.1101/mcs.a003764

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', , http://dx.doi.org/10.1101/852210

Lim LE; Chan DL; Thomas D; Wyld DK; Cehic G; Macdonald W; Du YT; Tincknell G; Kuchel A; Pavlakis N; Bailey D; Davis A; Segelov E, 2019, 'An Australian multi-centre experience of the use of peptide receptor radionuclide therapy for bronchial carcinoid tumours', Annals of Oncology, 30, pp. v572 - v572, http://dx.doi.org/10.1093/annonc/mdz256.021

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, http://dx.doi.org/10.1101/473348

Liu Z; Martin J; Orme L; Seddon B; Desai J; Nicholls W; Thomson D; Porter D; McCowage G; Underhill C; Cranswick N; Michael M; Zacharin M; Herschtal A; Sivasuthan J; Thomas DM, 2018, 'Gender differences in doxorubicin pharmacology for subjects with chemosensitive cancers of young adulthood', Cancer Chemotherapy and Pharmacology, 82, pp. 887 - 898, http://dx.doi.org/10.1007/s00280-018-3683-8

Woodcock F; Doble B; Fox SB; Collins I; Hayes T; Singh M; Richardson G; Lipton L; Moon SY; Lucas M; Fellowes A; Xu H; Thorne H; McNeil JJ; Lorgelly P; Thomas DM; James PA; John T; Risbridger G; Wright G; Snyder R, 2018, 'Mapping the EORTC-QLQ-C30 to the EQ-5D-3L: An Assessment of Existing and Newly Developed Algorithms', Medical Decision Making, 38, pp. 954 - 967, http://dx.doi.org/10.1177/0272989X18797588

Thavaneswaran S; Sebastian L; Ballinger M; Best M; Hess D; Lee CK; Sjoquist KM; Hague WE; Butow PN; Simes RJ; Thomas D, 2018, 'Cancer Molecular Screening and Therapeutics (MoST): A framework for multiple, parallel signal-seeking studies of targeted therapies for rare and neglected cancers', Medical Journal of Australia, 209, pp. 354.e1 - 354.e6, http://dx.doi.org/10.5694/MJA18.00227

Pattnaik S; Vacher C; Lee HC; Kaplan W; Thomas D; Wu J; Pinese M, 2018, 'Network-aware mutation clustering of cancer', BIORXIV, http://dx.doi.org/10.1101/432872

Walczak A; Patterson P; Thomas D, 2018, 'Trials and tribulations: improving outcomes for adolescents and young adults with rare and low survival cancers', Medical Journal of Australia, 209, pp. 330 - 332.e1, http://dx.doi.org/10.5694/MJA17.00976

Willis AM; Smith SK; Meiser B; Ballinger ML; Thomas DM; Tattersall M; Young MA, 2018, 'Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk', Journal of Genetic Counseling, 27, pp. 1055 - 1066, http://dx.doi.org/10.1007/s10897-018-0223-y

Chan EKF; Cameron DL; Petersen DC; Lyons RJ; Baldi BF; Papenfuss AT; Thomas DM; Hayes VM, 2018, 'Optical mapping reveals a higher level of genomic architecture of chained fusions in cancer', Genome Research, 28, pp. 726 - 738, http://dx.doi.org/10.1101/gr.227975.117

Best M; Newson AJ; Meiser B; Juraskova I; Goldstein D; Tucker K; Ballinger ML; Hess D; Schlub TE; Biesecker B; Vines R; Vines K; Thomas D; Young MA; Savard J; Jacobs C; Butow P, 2018, 'The PiGeOn project: Protocol of a longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer', BMC Cancer, 18, pp. 389, http://dx.doi.org/10.1186/s12885-018-4366-x

Koster R; Panagiotou OA; Wheeler WA; Karlins E; Gastier-Foster JM; Caminada de Toledo SR; Petrilli AS; Flanagan AM; Tirabosco R; Andrulis IL; Wunder JS; Gokgoz N; Patiño-Garcia A; Lecanda F; Serra M; Hattinger C; Picci P; Scotlandi K; Thomas DM; Ballinger ML; Gorlick R; Barkauskas DA; Spector LG; Tucker M; Belynda DH; Yeager M; Hoover RN; Wacholder S; Chanock SJ; Savage SA; Mirabello L, 2018, 'Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients', International Journal of Cancer, 142, pp. 1594 - 1601, http://dx.doi.org/10.1002/ijc.31195

Gounder MM; Thomas DM; Tap WD, 2018, 'Locally aggressive connective tissue tumors', Journal of Clinical Oncology, 36, pp. 202 - 209, http://dx.doi.org/10.1200/JCO.2017.75.8482

Rasmussen V; Forrest LE; Rogasik M; Girodet M; Meeus P; Sunyach MP; Blay JY; Bally O; Brahmi M; Ballinger ML; Niedermayr E; Thomas DM; Halliday J; James P; Ray-Coquard I; Young MA, 2018, 'A comparison of Australian and French families affected by sarcoma: Perceptions of genetics and incidental findings', Personalized Medicine, 15, pp. 13 - 24, http://dx.doi.org/10.2217/pme-2017-0035

Thomas D; Hare B; Cameron I, 2018, 'Using body mapping as part of the risk assessment process - a case study', POLICY AND PRACTICE IN HEALTH AND SAFETY, 16, pp. 224 - 240, http://dx.doi.org/10.1080/14773996.2018.1491146

Stacchiotti S; Blay J-Y; Jones RL; Demetri GDD; Mir O; Italiano A; Thomas D; Chen TW-W; Schöffski P; Gil T; Jahan T; Cote G; Ratan R; Attia S; Roche M; Daigle S; Sapir I; Clawson A; Gounder M, 2018, 'A phase II, multicenter study of the EZH2 inhibitor tazemetostat in adults (INI1-negative tumors cohort) (NCT02601950)', Annals of Oncology, 29, pp. viii580 - viii580, http://dx.doi.org/10.1093/annonc/mdy299.010

Jones RL; Blay J-Y; Agulnik M; Chugh R; Mir O; Italiano A; Thomas D; Gupta A; Jahan T; Cote G; Villalobos V; Demetri GDD; Roche M; Sapir I; Daigle S; Clawson A; Gounder M, 2018, 'A phase II, multicenter study of the EZH2 inhibitor tazemetostat in adults (rhabdoid tumor cohort) (NCT02601950)', Annals of Oncology, 29, pp. viii580 - viii581, http://dx.doi.org/10.1093/annonc/mdy299.011

Ballinger ML; Best A; Mai PL; Khincha PP; Loud JT; Peters JA; Achatz MI; Chojniak R; Balieiro Da Costa A; Santiago KM; Garber J; O'Neill AF; Eeles RA; Evans DG; Bleiker E; Sonke GS; Ruijs M; Loo C; Schiffman J; Naumer A; Kohlmann W; Strong LC; Bojadzieva J; Malkin D; Rednam SP; Stoffel EM; Koeppe E; Weitzel JN; Slavin TP; Nehoray B; Robson M; Walsh M; Manelli L; Villani A; Thomas DM; Savage SA, 2017, 'Baseline surveillance in li-fraumeni syndrome using whole-body magnetic resonance imaging ameta-analysis', JAMA Oncology, 3, pp. 1634 - 1639, http://dx.doi.org/10.1001/jamaoncol.2017.1968

Thomas DM, 2017, 'Is Li–Fraumeni syndrome really much more common?', Human Mutation, 38, pp. 1619, http://dx.doi.org/10.1002/humu.23342

Ballinger ML; Ferris NJ; Moodie K; Mitchell G; Shanley S; James PA; Thomas DM, 2017, 'Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging', JAMA oncology, 3, pp. 1735 - 1736, http://dx.doi.org/10.1001/jamaoncol.2017.1355

Fleuren EDG; Vlenterie M; Van Der Graaf WTA; Hillebrandt-Roeffen MHS; Blackburn J; Ma X; Chan H; Magias MC; Van Erp A; Van Houdt L; Cebeci SAS; Van De Ven A; Flucke UE; Heyer EE; Thomas DM; Lord CJ; Marini KD; Vaghjiani V; Mercer TR; Cain JE; Wu J; Versleijen-Jonkers YMH; Daly RJ, 2017, 'Phosphoproteomic profiling reveals ALK and MET as novel actionable targets across synovial sarcoma subtypes', Cancer Research, 77, pp. 4279 - 4292, http://dx.doi.org/10.1158/0008-5472.CAN-16-2550

Willis AM; Smith SK; Meiser B; Ballinger ML; Thomas DM; Young MA, 2017, 'Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review', Clinical Genetics, 92, pp. 121 - 133, http://dx.doi.org/10.1111/cge.12868

McBride KA; Ballinger ML; Schlub TE; Young MA; Tattersall MHN; Kirk J; Eeles R; Killick E; Walker LG; Shanley S; Thomas DM; Mitchell G, 2017, 'Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?', Familial Cancer, 16, pp. 423 - 432, http://dx.doi.org/10.1007/s10689-016-9964-7

Leung DH; Heltshe SL; Borowitz D; Gelfond D; Kloster M; Heubi JE; Stalvey M; Ramsey BW; Stecenko A; Schechter M; Hunter E; Hoover W; Hathorne H; Brand K; Filbrun A; Linn M; Borowitz D; Caci N; McWilliams B; Brazil I; Bushman M; McColley S; Bowen A; McCoy K; Sakellaris K; Sharma P; Cannon C; Hebert A; Sagel S; Anthony M; Dyson M; Urbanek H; Millard S; Gile C; Graff G; Allwein L; Hiatt P; Schaap N; Krupp N; Bendy L; Ahrens R; Teresi M; Berlinski A; Ramsey LL; McNamara J; Johnson M; Brown R; Berry P; Mehdi N; Royall J; Thomas D; Rubenstein R; Donnelly E; Weiner D; Hurban S; Hartigan E; Powers M; Simmons K; Chatfield B; Oldroyd H; Hoffman L; McNamara S; Wooldridge J; Cooper A; Faro A; Rodgers D; Fortner C; Suttmore V; Hocevar-Trnka J; Skalland M; Fowler A, 2017, 'Effects of diagnosis by newborn screening for cystic fibrosis on weight and length in the first year of life', JAMA Pediatrics, 171, pp. 546 - 554, http://dx.doi.org/10.1001/jamapediatrics.2017.0206

Peng G; Bojadzieva J; Ballinger ML; Li J; Blackford AL; Mai PL; Savage SA; Thomas DM; Strong LC; Wang W, 2017, 'Estimating TP53 mutation carrier probability in families with li-fraumeni syndrome using LFSPRO', Cancer Epidemiology Biomarkers and Prevention, 26, pp. 837 - 844, http://dx.doi.org/10.1158/1055-9965.EPI-16-0695

Lorgelly PK; Doble B; Rowen D; Brazier J; Thomas DM; Fox SB; Thorne H; Parisot JP; Doig K; Fellowes A; Dobrovic A; James PA; Lipton L; Ashley D; Hayes T; McMurrick P; Richardson G; Lucas M; McNeil JJ; John T, 2017, 'Condition-specific or generic preference-based measures in oncology? A comparison of the EORTC-8D and the EQ-5D-3L', Quality of Life Research, 26, pp. 1163 - 1176, http://dx.doi.org/10.1007/s11136-016-1443-y

Doble B; John T; Thomas D; Fellowes A; Fox S; Lorgelly P, 2017, 'Cost-effectiveness of precision medicine in the fourth-line treatment of metastatic lung adenocarcinoma: An early decision analytic model of multiplex targeted sequencing', Lung Cancer, 107, pp. 22 - 35, http://dx.doi.org/10.1016/j.lungcan.2016.05.024

Thway K; Noujaim J; Thomas DM; Fisher C; Jones RL, 2017, 'Myoepithelial Carcinoma of the Paracecal Mesentery: Aggressive Behavior of a Rare Neoplasm at an Unusual Anatomic Site.', Rare Tumors, 9, pp. 6504, http://dx.doi.org/10.4081/rt.2017.6504

Takeda K; Nakayama M; Hayakawa Y; Kojima Y; Ikeda H; Imai N; Ogasawara K; Okumura K; Thomas DM; Smyth MJ, 2017, 'IFN-γ is required for cytotoxic T cell-dependent cancer genome immunoediting', Nature Communications, 8, http://dx.doi.org/10.1038/ncomms14607

Vargas AC; Selinger CI; Satgunaseelan L; Cooper WA; Gupta R; Stalley P; Brown W; Soper J; Schatz J; Boyle R; Thomas DM; Tattersall MHN; Bhadri VA; Maclean F; Bonar SF; Scolyer RA; Karim RZ; McCarthy SW; Mahar A; O'Toole SA, 2016, 'Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases', Histopathology, 69, pp. 1000 - 1011, http://dx.doi.org/10.1111/his.13031

Lomax AJ; Beith J; Bhadri V; Boyer M; Grimison P; Horvath LG; Kao S; Tattersall M; Thomas D; McNeil C, 2016, 'Outcomes of patients with non-melanoma solid tumours receiving self-funded pembrolizumab at Chris O'Brien Lifehouse', Internal Medicine Journal, 46, pp. 1392 - 1398, http://dx.doi.org/10.1111/imj.13232

Ballinger ML; Thomas DM, 2016, 'Sarcoma and germ-line DICER1 mutations – Authors’ reply', The Lancet Oncology, 17, pp. e471, http://dx.doi.org/10.1016/S1470-2045(16)30527-7

Ballinger ML; Goode DL; Ray-Coquard I; James PA; Mitchell G; Niedermayr E; Puri A; Schiffman JD; Dite GS; Cipponi A; Maki RG; Brohl AS; Myklebost O; Stratford EW; Lorenz S; Ahn SM; Ahn JH; Kim JE; Shanley S; Beshay V; Randall RL; Judson I; Seddon B; Campbell IG; Young MA; Sarin R; Blay JY; O'Donoghue SI; Thomas DM, 2016, 'Monogenic and polygenic determinants of sarcoma risk: an international genetic study', The Lancet Oncology, 17, pp. 1261 - 1271, http://dx.doi.org/10.1016/S1470-2045(16)30147-4

Kager L; Whelan J; Dirksen U; Hassan B; Anninga J; Bennister L; Bovee JVMG; Brennan B; Broto JM; Brugieres L; Cleton-Jansen A-M; Copland C; Dutour A; Fagioli F; Ferrari S; Fiocco M; Fleuren E; Gaspar N; Gelderblom H; Gerrand C; Gerss J; Gonzato O; van der Graaf W; Hecker-Nolting S; Herrero-Martin D; Klco-Brosius S; Kovar H; Ladenstein R; Lancia C; LeDeley M-C; McCabe MG; Metzler M; Myklebost O; Nathrath M; Picci P; Potratz J; Redini F; Richter GHS; Reinke D; Rutkowski P; Scotlandi K; Strauss S; Thomas D; Tirado OM; Tirode F; Vassal G; Bielack SS, 2016, 'The ENCCA-WP7/EuroSarc/EEC/PROVABES/EURAMOS 3rd European Bone Sarcoma Networking Meeting/Joint Workshop of EU Bone Sarcoma Translational Research Networks; Vienna, Austria, September 24-25, 2015. Workshop Report', CLINICAL SARCOMA RESEARCH, 6, http://dx.doi.org/10.1186/s13569-016-0043-5

Lorgelly PK; Doble B; Knott RJ; Thomas DM; Fox SB; Thorne H; Parisot JP; Doig K; Fellowes A; Dobrovic A; Lipton L; Ashley D; Hayes T; McMurrick P; Richardson G; Lucas M; McNeil JJ; John T, 2016, 'Realising the Value of Linked Data to Health Economic Analyses of Cancer Care: A Case Study of Cancer 2015', PharmacoEconomics, 34, pp. 139 - 154, http://dx.doi.org/10.1007/s40273-015-0343-2

Burgess A; Chia KM; Haupt S; Thomas D; Haupt Y; Lim E, 2016, 'Clinical overview of MDM2/X-targeted therapies', Frontiers in Oncology, 6, http://dx.doi.org/10.3389/fonc.2016.00007

Thomas DM; Ballinger ML, 2016, 'Diagnosis and management of hereditary sarcoma', Recent Results in Cancer Research, 205, pp. 169 - 189, http://dx.doi.org/10.1007/978-3-319-29998-3_10

Ngiow SF; Loi S; Thomas D; Smyth MJ, 2016, 'Mouse Models of Tumor Immunotherapy', Tumor immunology, 130, pp. 1 - 24, http://dx.doi.org/10.1016/bs.ai.2015.12.004

McBride KA; Hallowell N; Tattersall MHN; Kirk J; Ballinger ML; Thomas DM; Mitchell G; Young MA, 2016, 'Timing and context: important considerations in the return of genetic results to research participants', Journal of Community Genetics, 7, pp. 11 - 20, http://dx.doi.org/10.1007/s12687-015-0231-7

Gaston CL; Grimer RJ; Parry M; Stacchiotti S; Dei Tos AP; Gelderblom H; Ferrari S; Baldi GG; Jones RL; Chawla S; Casali P; LeCesne A; Blay J-Y; Dijkstra SPD; Thomas DM; Rutkowski P, 2016, 'Current status and unanswered questions on the use of Denosumab in giant cell tumor of bone', Clinical Sarcoma Research, 6, pp. 15, http://dx.doi.org/10.1186/s13569-016-0056-0

Thomas D; Ballinger M, 2016, 'International survey of awareness of genetic risk in the clinical sarcoma community', Asia Pac J Clin Oncol, 12, pp. 133 - 142, http://dx.doi.org/10.1111/ajco.12457

Sampson JN; Wheeler WA; Yeager M; Panagiotou O; Wang Z; Berndt SI; Lan Q; Abnet CC; Amundadottir LT; Figueroa JD; Landi MT; Mirabello L; Savage SA; Taylor PR; De Vivo I; McGlynn KA; Purdue MP; Rajaraman P; Adami HO; Ahlbom A; Albanes D; Amary MF; An SJ; Andersson U; Andriole G; Andrulis IL; Angelucci E; Ansell SM; Arici C; Armstrong BK; Arslan AA; Austin MA; Baris D; Barkauskas DA; Bassig BA; Becker N; Benavente Y; Benhamou S; Berg C; Van Den Berg D; Bernstein L; Bertrand KA; Birmann BM; Black A; Boeing H; Boffetta P; Boutron-Ruault MC; Bracci PM; Brinton L; Brooks-Wilson AR; Bueno-De-Mesquita HB; Burdett L; Buring J; Butler MA; Cai Q; Cancel-Tassin G; Canzian F; Carrato A; Carreon T; Carta A; Chan JKC; Chang ET; Chang GC; Chang IS; Chang J; Chang-Claude J; Chen CJ; Chen CY; Chen C; Chen CH; Chen C; Chen H; Chen K; Chen KY; Chen KC; Chen Y; Chen YH; Chen YS; Chen YM; Chien LH; Chirlaque MD; Choi JE; Choi YY; Chow WH; Chung CC; Clavel J; Clavel-Chapelon F; Cocco P; Colt JS; Comperat E; Conde L; Connors JM; Conti D; Cortessis VK; Cotterchio M; Cozen W; Crouch S; Crous-Bou M; Cussenot O; Davis FG, 2015, 'Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types', Journal of the National Cancer Institute, 107, http://dx.doi.org/10.1093/jnci/djv279


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