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Research

The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort

This cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs

Research

Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015

We identified a high proportion of cases without known cause, highlighting the need for clinicians to carefully investigate all possibilities, including emerging infections.

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Initiating an undiagnosed diseases program in the Western Australian public health system

We describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program - WA

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Probabilistic linkage of national immunisation and state-based health records for a cohort of 1.9 million births to evaluate Australia’s childhood immunisation program

To describe the process for assembling a linked study that will enable the conduct of population-based studies related to immunisation and immunisation policy.

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Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.

disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer.

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The continuity and duration of depression and its relationship to non-suicidal self-harm and suicidal ideation and behavior in adolescents 12–17

Overlap between non-suicidal self-harm and suicidal ideation and behavior in young people with both symptom continuity and symptom duration implicated in this association

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Contemporary survival endpoints: An international diffuse intrinsic pontine glioma registry study

This study defines PFS and OS, and is the first describe post-progression survival in a large cohort of children with DIPG.

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Increased heterogeneity of airway calibre in adult rats after hypoxia-induced intrauterine growth restriction

The rat model demonstrates that intrauterine growth restriction leads to a more heterogeneous distribution of airway lumen calibre in adulthood

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Gestational age and school achievement: A population study

We examined gestational age from preterm to post-term against a national minimum standard for academic achievement in population data.

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Australian guide to the diagnosis of foetal alcohol spectrum disorder: A summary

The Australian Guide to the Diagnosis of Fetal Alcohol Spectrum Disorder has been developed, funded by the Commonwealth Department of Health