Search
Research
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.
Research
Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkageRespiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized
Research
Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndromeStructural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown.
Research
Anaesthesia, pain and recovery profiles in children following dental extractionsThe aim of this prospective cohort study was to describe the anaesthetic practices, rates of postoperative pain and the recovery trajectory of children having urgent dental extractions at our institution.
Research
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.
Research
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
Research
New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individualsWe investigated immune and non-immune related genes to determine other factors required for the development of Abacavir hypersensitivity syndrome
Research
Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based StudyAn increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed
Research
Progressive increase of FcεRI expression across several PBMC subsets is associated with atopy and atopic asthma within school-aged childrenThe expression pattern of FcεRI on DC and basophils differentiates asthmatic from non-asthmatic atopic children
Research
Requirements for improving health and well-being of children with Prader-Willi syndrome and their familiesPrader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement