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Research

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed

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Progressive increase of FcεRI expression across several PBMC subsets is associated with atopy and atopic asthma within school-aged children

The expression pattern of FcεRI on DC and basophils differentiates asthmatic from non-asthmatic atopic children

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Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement

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Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation

The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation

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Efficacy of oral amoxicillin-clavulanate or azithromycin for non-severe respiratory exacerbations in children with bronchiectasis (BEST-1)

Amoxicillin-clavulanate treatment is beneficial in terms of resolution of non-severe exacerbations of bronchiectasis in children

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The cumulative effect of inflammation and infection on structural lung disease in early cystic fibrosis

Pulmonary inflammation in surveillance bronchoalveolar lavage has a cumulative effect on structural lung disease extent, more so than infection

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Editorial: Insights Into Biomarkers, Cytokines, and Chemokines in Skin Cancer

Our current Research Topic highlights the complexity of the relationship between the skin, immune system and skin cancer

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Complexities of conducting research in adolescent refugees resettling in Australia

Adolescent refugees resettling in Australia are a vulnerable and marginalised population and research to understand their health-care needs remains scarce

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Investing in school readiness: A comparison of different early childhood education pathways in rural Indonesia

This paper documents that children in rural Indonesia participate in a great variety of early childhood education pathways

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A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome 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.