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Research

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Research

The challenges of developing and optimising an assay to measure 25-hydroxyvitamin D in saliva

We have developed an LC-MS/MS assay that accurately measures saliva 25(OH)D3 levels, which correlated with serum levels

Research

Malt1 deficient mice develop osteoporosis independent of osteoclast-intrinsic effects of Malt1 deficiency

Malt1 deficient mice develop an osteoporotic phenotype with increased osteoclastogenesis in vivo, but suggest that this is caused by inflammation

Research

Early respiratory viral infections in infants with cystic fibrosis

Early viral infections were associated with greater neutrophilic inflammation and bacterial pathogens

Research

Bowel patterns, gastrointestinal symptoms, and emotional well-being in adolescents: A cohort study

In adolescents, bowel patterns and gastrointestinal symptoms are diverse and show sex differences

Research

The ORVAC trial: A clinical trial of a third scheduled dose of Rotarix rotavirus vaccine in Australian Indigenous infants to improve protection against gastroenteritis

We hypothesised that scheduling an additional (third) dose of oral human rotavirus vaccine for children aged 6 to <12 months would improve protection

Research

A framework for the management of the pediatric airway

A simple, time critical, and pediatric-specific airway management approach will help to reduce airway-related pediatric morbidity and mortality

Research

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy

Research

Persistent and progressive long-term lung disease in survivors of preterm birth

This review aims to summarise what is known about the long-term pulmonary outcomes of contemporary preterm birth

Research

What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses

There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome