Area of research
Molecular Biology · Cancer Research
Research interest
Research interests include Cancer-related molecular mechanisms research, RNA modifications and cancer, RNA Research and Splicing, and Genomics and Rare Diseases.
Human genomic DNA is widely interspersed with i-motif structures
Long non-coding RNAs: definitions, functions, challenges and recommendations
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Evolutionary conservation of embryonic DNA methylome remodelling in distantly related teleost species
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
The long noncoding RNA lncNB1 promotes tumorigenesis by interacting with ribosomal protein RPL35
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity
I-motif DNA structures are formed in the nuclei of human cells
Evidence that TLR4 Is Not a Receptor for Saturated Fatty Acids but Mediates Lipid-Induced Inflammation by Reprogramming Macrophage Metabolism
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
CCR6 Defines Memory B Cell Precursors in Mouse and Human Germinal Centers, Revealing Light-Zone Location and Predominant Low Antigen Affinity
The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability states
Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression
RNAcentral: a comprehensive database of non-coding RNA sequences
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
The BET bromodomain inhibitor exerts the most potent synergistic anticancer effects with quinone-containing compounds and anti-microtubule drugs
RNAcentral: an international database of ncRNA sequences