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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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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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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
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Evidence of functional cell-mediated immune responses to nontypeable Haemophilus influenzae in otitis-prone childrenThese data provide evidence that otitis-prone children do not have impaired functional cell mediated immunity
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Disparity in Mortality From Rheumatic Heart Disease in Indigenous AustraliansIndigenous Australians are much more likely to die from Rheumatic Heart Disease than other Australians.
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Parents’ interest in their child's education and children's outcomes in adolescence and adulthood: Does gender matter?We found no evidence of gender-specific effects for the outcomes of academic achievement, educational expectations or educational attainment in adulthood.
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CFTR-dependent defect in alternatively-activated macrophages in cystic fibrosisCFTR-dependent imbalance of macrophage phenotypes and functions could contribute to the exaggerated inflammatory response seen in CF lung disease
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The correlation between central and peripheral oxytocin concentrations: A systematic review and meta-analysisThese results indicate a coordination of central and peripheral oxytocin release after stress and after intranasal administration
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A longitudinal analysis of the influence of the neighborhood environment on recreational walking within the neighborhood: Results from RESIDEevidence of the positive impact of well-connected neighborhoods and access to local parks of varying sizes on local residents’ recreational walking and health