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Refining nosology by modelling variation among facial phenotypes: The RASopathiesIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
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A Journey from Wild to Textbook Data to Reproducibly Refresh the Wages Data from the National Longitudinal Survey of Youth DatabaseTextbook data is essential for teaching statistics and data science methods because it is clean, allowing the instructor to focus on methodology. Ideally textbook datasets are refreshed regularly, especially when they are subsets taken from an ongoing data collection.
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The Spectrum, Severity and Outcomes of Rheumatic Mitral Valve Disease in Pregnant Women in Australia and New ZealandRheumatic heart disease (RHD) poses significant perinatal risks. We aimed to describe the spectrum, severity and outcomes of rheumatic mitral valve disease in pregnancy in Australia and New Zealand.
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Autism-related dietary preferences mediate autism-gut microbiome associationsThere is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and have not been designed to address potential confounding factors in a comprehensive way.
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Consensus guidelines for improving patients' understanding of invasive fungal disease and related risk prevention in the haematology/oncology setting, 2021Patients with invasive fungal disease (IFD) are at significant risk of morbidity and mortality. A productive partnership between patients, their carers/families, and the multidisciplinary team managing the infection and any underlying conditions, is essential.
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School-based depression and anxiety prevention programs: An updated systematic review and meta-analysisDepression and anxiety are often first experienced during childhood and adolescence, and interest in the prevention of these disorders is growing. The focus of this review was to assess the effectiveness of psychological prevention programs delivered in schools, and to provide an update to our previous review from five years ago (Werner-Seidler, Perry, Calear, Newby, & Christensen, 2017).
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Development and validation of a miniaturized bacteriophage host range screening assay against antibiotic resistant Pseudomonas aeruginosaAntimicrobial resistance is a current global health crisis, and the increasing emergence of multidrug resistant infections has led to the resurgent interest in bacteriophages as an alternative treatment.
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PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrumLarge-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment.
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Climate change, activism, and supporting the mental health of children and young people: Perspectives from Western AustraliaThe climate crisis has detrimental impacts on the mental health and wellbeing of children and young people. Psychological effects include feelings of fear, overwhelm, worry, distress, hopelessness and anger; PTSD; depression; anxiety; phobias; panic disorder; sleep disturbances; attachment disorders; learning difficulties; substance abuse; shock and trauma symptoms; adjustment problems; behavioural problems; and, suicidal thinking.
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Target identification for small-molecule discovery in the FOXO3a tumor-suppressor pathway using a biodiverse peptide libraryGenetic screening technologies to identify and validate macromolecular interactions (MMIs) essential for complex pathways remain an important unmet need for systems biology and therapeutics development. Here, we use a library of peptides from diverse prokaryal genomes to screen MMIs promoting the nuclear relocalization of Forkhead Box O3 (FOXO3a), a tumor suppressor more frequently inactivated by post-translational modification than mutation.