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Research

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia,...

Research

Statistical adjustment of genotyping error in a case-control study of childhood leukaemia

Genotyping has become more cost-effective and less invasive with the use of buccal cell...

Research

Fusionfinder: A software tool to identify expressed gene fusion candidates from RNA-seq data

The hallmarks of many haematological malignancies and solid tumours are chromosomal translocations, which may lead to gene fusions.

Research

TLR3 and RIG-I gene variants: Associations with functional effects on receptor expression and responses to measles viru

Measles virus causes severe morbidity and mortality, despite the availability of measles vaccines. Successful defence against viral pathogens requires early...

Research

Increased mortality among Indigenous persons during and after release from prison in New South Wales

The objective of this study was to estimate the overall and cause specific mortality of Aboriginal offenders in New South Wales (NSW), Australia.

Research

Progression of early structural lung disease in young children with cystic fibrosis assessed using CT

Cross-sectional studies implicate neutrophilic inflammation and pulmonary infection as risk factors for early structural lung disease in infants and young...

Research

Genetic partitioning of interleukin-6 signalling in mice dissociates Stat3 from Smad3-mediated lung fibrosis

Idiopathic pulmonary fibrosis (IPF) is a fatal disease that is unresponsive to current therapies.

Research

Profiles of circumscribed interests in autistic youth

Circumscribed interests encompass a range of different interests and related behaviors that can be characterized by either a high intensity but otherwise usual topic [referred to as restricted interests] or by a focus on topics that are not salient outside of autism [referred to as unusual interests].

Research

Parent-reported atypical development in the first year of life and age of autism diagnosis

This study examined whether parent-reported atypical development in their child's first year was associated with age of diagnosis and age when parents first needed to consult a specialist about their child's development.