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Research

DNA methylation-based classification of central nervous system tumours

Here we present an approach for the DNA methylation-based classification of central nervous system tumors across all groups and demonstrate its application.

Research

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives

Research

Efficacy of the Aussie Optimism Program: Promoting Pro-social Behavior and Preventing Suicidality in Primary School Students. A Randomised-Controlled Trial

Aussie Optimism Program with teacher training along with coaching may have the potential to positively impact on suicidality and pro-social behavior in the pre-adolescent years

Research

A phenotype centric benchmark of variant prioritisation tools

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

Research

MatCH (Mothers and their Children’s Health) Profile: offspring of the 1973-78 cohort of the Australian Longitudinal Study on Women’s Health

MatCH is an Australian study to investigate the links between the health, wellbeing and living conditions of mothers and the health and development of their children

Research

Cerebral palsy and genomics: an international consortium

Accumulating evidence of the role of genetic variation in CP aetiology suggests that individuals with CP should undergo genomic testing as part of their diagnostic workup

Research

Assessment of on-time vaccination coverage in population subgroups: A record linkage cohort study

On-time coverage of the 2-4-6 month schedule is only 50-60% across specific population subgroups representing a significant avoidable public health risk

Research

Does otitis media in early childhood affect later behavioural development? Results from the Western Australian Pregnancy Cohort (Raine) Study

The relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders.

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

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