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The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.

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Playgroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.

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In this cohort, as compared with the AREST CF cohort, the authors highlight the limited correlation between infection and inflammation with lung function and structural impairment, and that this was mainly explained by the mild changes identified in lung function and on chest CT scan.

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Recent vaccine mandates in Australia, as in other high income settings, have sought to change the behavior of parents, including those who would otherwise access nonmedical exemptions. Since 2014, Australian state governments have introduced and progressively tightened policies restricting the access of unvaccinated children to early education and child care.

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Rheumatic heart disease in pregnancy persists in First Nations people in Australia and New Zealand and is associated with major cardiac and perinatal morbidity

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For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing

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This manuscript will give a brief overview of clinical trial design including the strengths and limitations of various approaches

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Overall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment

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This review describes the evolution of bronchopulmonary dysplasia definitions, evaluates the benefits and limitations of each approach

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Here, we present the abstracts and proceedings of our 8th annual conference, held in Detroit, Michigan in May 2019, themed "From Challenges, to Opportunities"