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Research
Personalised analytics for rare disease diagnosticsHere we focus on the problem of prioritising variants with respect to the observed disease phenotype
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CASSETTE-clindamycin adjunctive therapy for severe Staphylococcus aureus treatment evaluation: Study protocol for a randomised controlled trialThis study will assess the effect of adjunctive clindamycin on patient-centred outcomes in severe, toxin-mediated S. aureus infections
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Prevalence of Racial Discrimination in a Cohort of Aboriginal and Torres Strait Islander ChildrenThis study looked at the frequency of racism experiences over time in a population of Aboriginal and Torres Strait Islander children
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Effectiveness of a 3 + 0 pneumococcal conjugate vaccine schedule against invasive pneumococcal disease among a birth cohort of 1.4 million children in AustraliaOur population-based cohort study demonstrates that >90% coverage in the first year of a universal 3 + 0 PCV program provided high population-level protection
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Role of viral and bacterial pathogens in causing pneumonia among Western Australian children: A case-control study protocolWe aim to determine the contribute of bacteria and virus to childhood CAP to inform further development of effective strategies.
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A randomised controlled trial of an iPad-based application to complement early behavioural intervention in Autism Spectrum DisorderTechnology-based interventions may provide a relatively low-cost addition to existing therapist-delivered interventions for children with ASD
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Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer.
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Cord blood Streptococcus pneumoniae-specific cellular immune responses predict early pneumococcal carriage in high-risk infants in Papua New GuineaWe aimed to explore whether newborns in high-risk areas have pre-existing pneumococcal-specific cellular immune responses that effects early acquisition.
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Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in SudanMultiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan
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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia