Select Publications
Journal articles
, 2021, 'Family communication about genomic sequencing: A qualitative study with cancer patients and relatives', Patient Education and Counseling, 104, pp. 944 - 952, http://dx.doi.org/10.1016/j.pec.2020.10.022
, 2021, 'PD-1 blockade using pembrolizumab in adolescent and young adult patients with advanced bone and soft tissue sarcoma', Cancer Reports, 4, http://dx.doi.org/10.1002/cnr2.1327
, 2021, 'Germline RET variants underlie a subset of paediatric osteosarcoma', Journal of Medical Genetics, 58, pp. 20 - 24, http://dx.doi.org/10.1136/jmedgenet-2019-106734
, 2021, 'Novel RET fusion RET-SEPTIN9 predicts response to selective RET inhibition with selpercatinib in malignant pheochromocytoma', JCO Precision Oncology, 5, pp. 1160 - 1165, http://dx.doi.org/10.1200/PO.21.00127
, 2021, 'Disparities in Cancer Care: The Example of Sarcoma-In Search of Solutions for a Global Issue.', Am Soc Clin Oncol Educ Book, 41, pp. 1 - 7, http://dx.doi.org/10.1200/EDBK_320463
, 2021, 'Heritable cancer risk in the genomic ERA', Pathology, 53, pp. S10 - S10, http://dx.doi.org/10.1016/j.pathol.2021.05.038
, 2020, 'Author Correction: Diagnosis of fusion genes using targeted RNA sequencing (Nature Communications, (2019), 10, 1, (1388), 10.1038/s41467-019-09374-9)', Nature Communications, 11, pp. 1810, http://dx.doi.org/10.1038/s41467-020-15697-9
, 2020, 'BRCA1 Promoter Methylation and Clinical Outcomes in Ovarian Cancer: An Individual Patient Data Meta-Analysis', Journal of the National Cancer Institute, 112, pp. 1190 - 1203, http://dx.doi.org/10.1093/jnci/djaa070
, 2020, 'The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly', Nature Communications, 11, pp. 435, http://dx.doi.org/10.1038/s41467-019-14079-0
, 2020, 'Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network', Annals of Oncology, 31, pp. 1506 - 1517, http://dx.doi.org/10.1016/j.annonc.2020.08.2232
, 2020, 'Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer', Nature Medicine, 26, pp. 1742 - 1753, http://dx.doi.org/10.1038/s41591-020-1072-4
, 2020, 'Cancer patients' views and understanding of genome sequencing: A qualitative study', Journal of Medical Genetics, 57, pp. 671 - 676, http://dx.doi.org/10.1136/jmedgenet-2019-106410
, 2020, 'Advanced Cancer Patient Knowledge of and Attitudes towards Tumor Molecular Profiling', Translational Oncology, 13, pp. 100799, http://dx.doi.org/10.1016/j.tranon.2020.100799
, 2020, 'Australian experience of peptide receptor radionuclide therapy in lung neuroendocrine tumours', Oncotarget, 11, pp. 2636 - 2646, http://dx.doi.org/10.18632/oncotarget.27659
, 2020, 'A signal-seeking trial of olaparib and durvalumab in homologous repair-deficient tumors: A sub-study of the cancer molecular screening and therapeutics (MoST) program.', Journal of Clinical Oncology, 38, pp. 3073 - 3073, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.3073
, 2020, 'Genotype and phenotype correlation of common cancer predisposition syndromes in sarcoma cases.', Journal of Clinical Oncology, 38, pp. 1524 - 1524, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1524
, 2020, 'Return of results after somatic tumor mutation profiling in advanced cancer: Psychological impacts.', Journal of Clinical Oncology, 38, pp. 1541 - 1541, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1541
, 2020, 'Assessment of the Value of Tumor Variation Profiling Perceived by Patients with Cancer', JAMA Network Open, 3, pp. e204721, http://dx.doi.org/10.1001/jamanetworkopen.2020.4721
, 2020, 'Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients with Osteosarcoma', JAMA Oncology, 6, pp. 724 - 734, http://dx.doi.org/10.1001/jamaoncol.2020.0197
, 2020, 'MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer', Science
, 2020, 'Who should access germline genome sequencing? A mixed methods study of patient views', Clinical Genetics, 97, pp. 329 - 337, http://dx.doi.org/10.1111/cge.13664
, 2020, 'Penetrance of different cancer types in families with Li-Fraumeni syndrome: A validation study using multicenter cohorts', Cancer Research, 80, pp. 354 - 360, http://dx.doi.org/10.1158/0008-5472.CAN-19-0728
, 2020, 'Tumor-associated macrophages and macrophage-related immune checkpoint expression in sarcomas', Oncoimmunology, 9, pp. 1747340, http://dx.doi.org/10.1080/2162402X.2020.1747340
, 2020, 'Heritable cancer risk in the genomic era', Pathology, 52, pp. S28 - S29, http://dx.doi.org/10.1016/j.pathol.2020.01.118
, 2019, 'Diagnosis of fusion genes using targeted RNA sequencing', Nature Communications, 10, pp. 1388, http://dx.doi.org/10.1038/s41467-019-09374-9
, 2019, 'Expression of lymphocyte immunoregulatory biomarkers in bone and soft-tissue sarcomas', Modern Pathology, 32, pp. 1772 - 1785, http://dx.doi.org/10.1038/s41379-019-0312-y
, 2019, 'Infiltrating myeloid cells drive osteosarcoma progression via GRM4 regulation of IL23', Cancer Discovery, 9, pp. 1511 - 1519, http://dx.doi.org/10.1158/2159-8290.CD-19-0154
, 2019, 'Pexidartinib versus placebo for advanced tenosynovial giant cell tumour (ENLIVEN): a randomised phase 3 trial', Lancet, 394, pp. 478 - 487, http://dx.doi.org/10.1016/S0140-6736(19)30764-0
, 2019, 'Patient perspectives on molecular tumor profiling: "why wouldn't you?"', BMC Cancer, 19, pp. 753, http://dx.doi.org/10.1186/s12885-019-5920-x
, 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
, 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
, 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
, 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
, 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
, 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
, 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
, 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
, 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
, 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
, 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
, 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 - 354.e6, http://dx.doi.org/10.5694/MJA18.00227
, 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
, 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
, 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
, 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
, 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
, 2018, 'Locally aggressive connective tissue tumors', Journal of Clinical Oncology, 36, pp. 202 - 209, http://dx.doi.org/10.1200/JCO.2017.75.8482
, 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
, 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
, 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