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        Research

        CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

        Over 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. ...

        Research

        Breakfast skipping and cognitive and emotional engagement at school: A cross-sectional population level study

        Research 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. ...

        Research

        Introduction to the updated Australasian consensus guidelines for the management of invasive fungal disease and use of antifungal agents in the haematology/oncology setting, 2021

        This article introduces the fourth update of the Australian and New Zealand consensus guidelines for the management of invasive fungal disease and use of antifungal agents in the haematology/oncology setting. These guidelines are comprised of nine articles as presented in this special issue of the Internal Medicine Journal. This introductory chapter outlines the rationale for the current update and the steps taken to ensure implementability in local settings. ...

        Research

        Consensus guidelines for the diagnosis and management of invasive aspergillosis, 2021

        Invasive 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. ...

        Research

        Long-term exposure of mice to 890 ppm atmospheric CO2 alters growth trajectories and elicits hyperactive behaviours in young adulthood

        Atmospheric carbon dioxide (CO2) levels are currently at 418 parts per million (ppm), and by 2100 may exceed 900 ppm. The biological effects of lifetime exposure to CO2 at these levels is unknown. Previously we have shown that mouse lung function is altered by long-term exposure to 890 ppm CO2. Here, we assess the broader systemic physiological responses to this exposure. ...

        Research

        Active transport research priorities for Australia

        To 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. ...

        Research

        Substantial intra‐individual variability in post‐prandial time to peak in controlled and free‐living conditions in children with Type 1 diabetes

        The optimal time to bolus insulin for meals is challenging for children and adolescents with type 1 diabetes (T1D). Current guidelines to control glucose excursions do not account for individual differences in glycaemic responses to meals. ...

        Research

        The anticipatory response to stress and symptoms of depression and anxiety in early adulthood

        Whilst cortisol reactivity has been associated with depression and anxiety disorders, research examining cortisol reactivity with early symptoms of these conditions in males and females is limited. ...

        Research

        A Pilot Case-Control Study of the Social Media Activity Following Cluster and Non-Cluster Suicides in Australia

        Social media may play a role in the "contagion" mechanism thought to underpin suicide clusters. Our pilot case-control study presented a novel methodological approach to examining whether Facebook activity following cluster and non-cluster suicides differed. ...

        Research

        Common-sense approaches to sharing tabular data alongside publication

        Numerous arguments strongly support the practice of open science, which offers several societal and individual benefits. For individual researchers, sharing research artifacts such as data can increase trust and transparency, improve the reproducibility of one's own work, and catalyze new collaborations. ...

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