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Research
A phenotype centric benchmark of variant prioritisation toolsWe hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
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Early autism symptoms in infants with tuberous sclerosis complexWe examined early signs of ASD in infants wit tuberous sclerosis complex, approximately 50% of whom will meet criteria for ASD by age 3.
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Investigating the long-term impact of a childhood sun-exposure intervention, with a focus on eye health: protocol for the Kidskin-Young Adult Myopia StudyA follow-up of Kidskin Study participants provides an opportunity to investigate the associations between a childhood sun-exposure intervention and potentially related conditions in adulthood
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Cyber-Friendly SchoolsThis chapter describes a whole-school cyberbullying intervention developed and evaluated in Western Australia with secondary school students aged 13–18 years old
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Cerebral palsy and genomics: an international consortiumAccumulating evidence of the role of genetic variation in CP aetiology suggests that individuals with CP should undergo genomic testing as part of their diagnostic workup
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Rheumatic Heart Disease Worldwide: JACC Scientific Expert PanelThe authors present a variety of pressing clinical research questions on optimal RHD prevention and advanced care
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Worldwide variation in human milk metabolome: Indicators of breast physiology and maternal lifestyle?This study investigates the variation of human milk metabolites in human milk between five different countries
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The Canmore Declaration: Statement of Principles for Planetary HealthWe provide the Canmore Declaration, a Statement of Principles for Planetary Health
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Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency DisorderOur study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
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Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathwaysOur results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs