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A Methylome and Transcriptome Analysis of Normal Human Scar Cells Reveals a Role for FOXF2 in Scar MaintenanceScars are maintained for life and increase in size during periods of growth such as puberty. Epigenetic changes in fibroblasts after injury may underpin the maintenance and growth of scars. In this study, we combined methylome and transcriptome data from normotrophic mature scar and contralateral uninjured normal skin fibroblasts to identify potential regulators of scar maintenance.
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People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchThe goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.
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Microcephaly in Australian infants: A retrospective auditThe aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.
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Preferred health outcome states following treatment for pulmonary exacerbations of cystic fibrosisTreatment for pulmonary exacerbations of cystic fibrosis (CF) can produce a range of positive and negative outcomes. Understanding which of these outcomes are achievable and desirable to people affected by disease is critical to agreeing to goals of therapy and determining endpoints for trials.
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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
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Consensus guidelines for the diagnosis and management of invasive aspergillosis, 2021Invasive aspergillosis (IA) in haematology/oncology patients presents as primary infection or breakthrough infection, which can become refractory to antifungal treatment and has a high associated mortality. Other emerging patient risk groups include patients in the intensive care setting with severe respiratory viral infections, including COVID-19.
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Overarching Evaluation of the National Support for Child and Youth Mental Health Program- Final ReportThe National Support for Child and Youth Mental Health Program (the Program) aims to improve mental health outcomes for children and young people, commencing with the early years and going through to adolescence, by providing targeted grants for workforce and education activities that will build capabilities aligned to the Program objectives.
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Active transport research priorities for AustraliaTo advance active transport, robust policy-relevant evidence is needed to understand how to change behaviour and to support decision-making by policy makers and practitioners. Currently, however, priority research questions that are most critical for advancing active transport have not been identified.
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Breakfast skipping and cognitive and emotional engagement at school: A cross-sectional population level studyResearch on the consequences of breakfast skipping among students tends to focus on academic outcomes, rather than student wellbeing or engagement at school. This study investigated the association between breakfast skipping and cognitive and emotional aspects of school engagement.
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Variation in excess all-cause mortality by age, sex, and province during the first wave of the COVID-19 pandemic in ItalyAlthough previous evidence suggests that the infection fatality rate from COVID-19 varies by age and sex, and that transmission intensity varies geographically within countries, no study has yet explored the age-sex-space distribution of excess mortality associated with the COVID pandemic.