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Decoding Susceptibility to Respiratory Viral Infections and Asthma Inception in ChildrenHuman Respiratory Syncytial Virus and Human Rhinovirus are the most frequent cause of respiratory tract infections in infants and children and are major triggers of acute viral bronchiolitis, wheezing and asthma exacerbations.
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Long-term economic outcomes for interventions in early childhood: protocol for a systematic reviewInvestment in early childhood produces positive returns: for the child, the family and the community.
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A positive feedback loop between alpha1-adrenoceptors and inflammatory cytokines in keratinocytesOur results suggest that reciprocal influences between alpha1-adrenoceptors and inflammatory cytokines may play a role in normal inflammatory responses
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Parainfluenza Virus Infection in an Australian Community-based Birth CohortIn a community-based birth cohort of 158 Australian infants followed to age 2 years, the incidence rate of human parainfluenza virus (HPIV) was 0.42 (95% CI = 0.33, 0.54) episodes per child-year with episodes occurring year-round, peaking in the spring season.
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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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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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Panel 8: Vaccines and immunologyReview and highlight of the significant advances made towards vaccine development and understanding of the immunology of otitis media
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Germline Elongator mutations in Sonic Hedgehog medulloblastomaGenetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers
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Differences in stroke risk and cardiovascular mortality for Aboriginal and other Australian patients with atrial fibrillationStroke risk and cardiovascular mortality are markedly higher for Aboriginal than non-Aboriginal patients with atrial fibrillation, particularly for patients under 60
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Rheumatic heart disease in pregnancy: Profile of women admitted to a Western Australian tertiary obstetric hospitalThis retrospective study assessed maternal and perinatal outcomes for women with rheumatic heart disease admitted to the largest tertiary obstetric hospital