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Research
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.
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A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well-beingChildren with neurodevelopmental disorders share common phenotypes, support needs and comorbidities. Such overlap suggests the value of transdiagnostic assessment pathways that contribute to knowledge about research and clinical needs of these children and their families.
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Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels.
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Characterizing human movement patterns using GPS data loggers in an area of persistent malaria in Zimbabwe along the Mozambique borderHuman mobility is a driver for the reemergence or resurgence of malaria and has been identified as a source of cross-border transmission. However, movement patterns are difficult to measure in rural areas where malaria risk is high. In countries with malaria elimination goals, it is essential to determine the role of mobility on malaria transmission to implement appropriate interventions.
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Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schoolsWhen the COVID-19 pandemic was declared, Governments responded with lockdown and isolation measures to combat viral spread, including the closure of many schools. More than a year later, widespread screening for SARS-CoV-2 is critical to allow schools and other institutions to remain open.
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Targeting cross-presentation as a route to improve the efficiency of peptide-based cancer vaccinesCross-presenting dendritic cells (DC) offer an attractive target for vaccination due to their unique ability to process exogenous antigens for presentation on MHC class I molecules. Recent reports have established that these DC express unique surface receptors and play a critical role in the initiation of anti-tumor immunity, opening the way for the development of vaccination strategies specifically targeting these cells.
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Harmonized Phenotypes for Anxiety, Depression, and Attention-Deficit Hyperactivity Disorder (ADHD)In multi-cohort consortia, the problem often arises that a phenotype is measured using different questionnaires. This study aimed to harmonize scores based on the Child Behaviour Check List (CBCL) and the Strength and Difficulties Questionnaire (SDQ) for anxiety/depression and ADHD.
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The safety of co-administration of Bacille Calmette-Guérin (BCG) and influenza vaccinesWith the emergence of novel vaccines and new applications for older vaccines, co-administration is increasingly likely. The immunomodulatory effects of BCG could theoretically alter the reactogenicity of co-administered vaccines. Using active surveillance in a randomised controlled trial, we aimed to determine whether co-administration of BCG vaccination changes the safety profile of influenza vaccination.
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Trajectories of childhood immune development and respiratory health relevant to asthma and allergyOur findings demonstrate the utility of unsupervised analysis in elucidating heterogeneity in asthma pathogenesis
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Upper Airway Cell Transcriptomics Identify a Major New Immunological Phenotype with Strong Clinical Correlates in Young Children with Acute WheezingAsthma exacerbations in children can be divided into IRF7hi versus IRF7lo phenotypes with associated differences in clinical phenotypes