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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.
Research
MatCH (Mothers and their Children’s Health) Profile: offspring of the 1973-78 cohort of the Australian Longitudinal Study on Women’s HealthMatCH is an Australian study to investigate the links between the health, wellbeing and living conditions of mothers and the health and development of their children
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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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From Authoritarianism to Advocacy: Lifestyle-Driven, Socially-Transmitted Conditions Require a Transformation in Medical Training and PracticeHere, we open a dialogue on authoritarianism in westernized medicine as a starting point in order to encourage the development of critical research
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DNA methylation-based classification of central nervous system tumoursHere we present an approach for the DNA methylation-based classification of central nervous system tumors across all groups and demonstrate its application.
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Effects of maltreatment and parental schizophrenia spectrum disorders on early childhood social-emotional functioning: a population record linkage studyWe used data from a large Australian population to determine the independent and moderating effects of maltreatment and parental SSDs on early childhood.
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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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End-inspiratory molar mass step correction for analysis of infant multiple breath washout testsWe aimed to evaluate the use of the EIMM-step method in a broad range of infants.