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Research
A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Racial discrimination and child and adolescent health in longitudinal studies: A systematic reviewThis review emphasises the need to gain evidence for the mechanisms linking early racism exposure to adverse health outcomes in later life
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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.