Search
Research
An unbiased exploration of the human regulatory landscapeWe are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information required to specify the morphology, function and response to stimuli of these cells is encoded in identical copies of the genome. The process of gene regu
Research
Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western AustraliaWe have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge here is that the role and functions of the inter-genic regions of our genome (the remaining 98%) are relatively poorly understood.
Research
Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificityOur result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner
Research
Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational ageWe identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues
Research
Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironmentOur results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained
Research
Refining nosology by modelling variation among facial phenotypes: The RASopathiesIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
Research
Autism risk associated with parental age and with increasing difference in age between the parentsIncreases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
Research
CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSsCAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types
Research
Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based studyAccurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
Research
Searching for a technology-driven acute rheumatic fever test: the START study protocolThe absence of a diagnostic test for acute rheumatic fever (ARF) is a major impediment in managing this serious childhood condition. ARF is an autoimmune condition triggered by infection with group A Streptococcus.