Team
Computational Biology projects
Featured Research
Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells
An atlas of active enhancers across human cell types and tissues
A promoter-level mammalian expression atlas
An integrated encyclopedia of DNA elements in the human genome
Landscape of transcription in human cells
Reports and Findings
The psychosocial impact of childhood dementia on children and their parents: a systematic review
Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.
Published research Early Childhood Development Computational Biology Child and adolescent healthGenomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
Published research Computational Biology Child disabilityTrends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study
Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
Published research Child Disability Computational Biology Child disabilityHospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia
To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.
Published research Human Development and Community Wellbeing Child Disability Computational Biology Child disability