- MicroRNA in disease regulation
- Circular RNAs in diseases
- Cancer-related molecular mechanisms research
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Advanced biosensing and bioanalysis techniques
- RNA and protein synthesis mechanisms
- Health Systems, Economic Evaluations, Quality of Life
- Genomics and Rare Diseases
- Nuclear Receptors and Signaling
- RNA regulation and disease
- RNA Research and Splicing
- Chromatin Remodeling and Cancer
- Genomics and Chromatin Dynamics
- Obsessive-Compulsive Spectrum Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Ethics in Clinical Research
- Trypanosoma species research and implications
- Biomedical Ethics and Regulation
Sydney Local Health District
2024
The University of Sydney
2024
Sydney Children’s Hospitals Network
2024
UNSW Sydney
2015-2022
BackgroundCircular RNAs (circRNAs) are enriched in the mammalian brain and upregulated response to neuronal differentiation depolarization. These RNA molecules, formed by noncanonical back-splicing, have both regulatory translational potential.MethodsHere, we carried out an extensive characterization of circRNA expression human brain, nearly 200 samples, from healthy controls autism cases.ResultsWe identified hundreds novel circRNAs demonstrated that not expressed stochastically, but rather...
Aim Recent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges service provision, education upskilling requirements for non‐genetics health‐care professionals remuneration genomic testing. In Australia, Medicare funding with a Paediatric testing item patients intellectual disability or syndromic features attempted address latter issue. The Sydney Children's Hospitals Network – Westmead (SCHN‐W)...
Topoisomerase I is required for the proper expression of long genes (> 100 kb) in mouse and human cortical neurons, including many candidate autism spectrum disorder (ASD) [1]. Given important role astrocytes brain development [2], we investigated whether genes, susceptibility also require topoisomerase primary astrocytes. We carried genome-wide profiling cultured following treatment with inhibitor Topotecan, using Illumina microarrays. identified several thousands differentially expressed...
Abstract Motivation CircRNAs are covalently closed RNA molecules that particularly abundant in the brain. While circRNA expression data from human brain is rapidly accumulating, integration of large-scale datasets remains challenging and time-consuming, consequently an integrative view currently lacking. Results NeuroCirc a web-based resource allows interactive exploration multiple types brain, including datasets, circQTL across neuronal differentiation cellular maturation time-courses. also...
ABSTRACT Circular RNAs (circRNAs) are enriched in the mammalian brain and upregulated response to neuronal differentiation depolarisation. These RNA molecules, formed by non-canonical back-splicing, have both regulatory translational potential. Here, we carried out an extensive characterisation of circRNA expression human brain, nearly two hundred samples, from healthy individuals autism cases. We identify hundreds novel circRNAs demonstrate that not expressed stochastically, but rather as...