Area of research
Genetics · Cancer Research
Research interest
Research interests include Cancer Genomics and Diagnostics, Acute Myeloid Leukemia Research, BRCA gene mutations in cancer, and Chronic Lymphocytic Leukemia Research.
Advancing diagnostic targeted RNA sequencing for haematological malignancies within an Australian sample exchange program.
Genomic variation in DDX41 identified through clinical sequencing.
Landscape of TP53 abnormalities and IGHV mutational profile in untreated Australian patients with chronic lymphocytic leukaemia.
Cost Effectiveness of Molecular Diagnostic Testing Algorithms for the Treatment Selection of Frontline Ibrutinib for Patients with Chronic Lymphocytic Leukemia in Australia.
Observations from a national sample exchange program for molecular haematology testing.
The clinical and genomic landscape of patients with <i>DDX41</i> variants identified during diagnostic sequencing
Biallelic deleterious germline <i>SH2B3</i> variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity.
Clinically relevant variation in FLT3-ITD quantitation as a result of PCR cycle number and ITD insertion size.
Clonal hematopoiesis, myeloid disorders and BAX-mutated myelopoiesis in patients receiving venetoclax for CLL.
Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.
Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
Health economic evidence for the use of molecular biomarker tests in hematological malignancies: A systematic review.
Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.
Outcomes of patients with CLL sequentially resistant to both BCL2 and BTK inhibition.
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Clonal independence of <i>JAK2</i> and <i>CALR</i> or <i>MPL</i> mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing.
Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions.
An Update on the Current Genomic Landscape of Breast Implant-Associated Anaplastic Large Cell Lymphoma.
Response to everolimus in a patient with refractory HGBL-NOS harboring multiple genomic aberrations in PTEN.
Multiple BCL2 mutations cooccurring with Gly101Val emerge in chronic lymphocytic leukemia progression on venetoclax.
Detection of an IGH-<i>BRAF</i> fusion in a patient with BRAF Val600Glu negative hairy cell leukemia.
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
Severe chemotherapy toxicity in a 10-year-old with T-acute lymphoblastic lymphoma harboring biallelic <i>FANCM</i> variants.
Publisher Correction: CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing.
Acquisition of the Recurrent Gly101Val Mutation in BCL2 Confers Resistance to Venetoclax in Patients with Progressive Chronic Lymphocytic Leukemia.
First-in-Human RNA Polymerase I Transcription Inhibitor CX-5461 in Patients with Advanced Hematologic Cancers: Results of a Phase I Dose-Escalation Study.
BTK Leu528Trp - a Potential Secondary Resistance Mechanism Specific for Patients with Chronic Lymphocytic Leukemia Treated with the Next Generation BTK Inhibitor Zanubrutinib
Characterization of a novel venetoclax resistance mutation (BCL2 Phe104Ile) observed in follicular lymphoma.
Molecular Drivers of Breast Implant-Associated Anaplastic Large Cell Lymphoma.