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Consultation informs strategies for improving the use of functional evidence in variant classificationWhen investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
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Immune impacts of infant whole-cell and acellular pertussis vaccination on co-administered vaccinesWe compared the effect of a heterologous wP/aP/aP primary series (hereafter mixed wP/aP) versus a homologous aP/aP/aP primary schedule (hereafter aP-only) on antibody responses to co-administered vaccine antigens in infants and toddlers.
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Acute rheumatic feverAcute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.
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Does exercise in cool water cause a higher risk of hypoglycaemia than in thermoneutral conditions in type 1 diabetes?The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.
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Measurement of urinary 1-aminopyrene and 1-hydroxypyrene as biomarkers of exposure to diesel particulate matter in gold minersThe concentrations of 1-AP and 1-OHP increased significantly across a 12-hour mining work shift
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The Brain Basis of Comorbidity in Neurodevelopmental DisordersThis review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights
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Preventive medicine for person, place, and planet: Revisiting the concept of high-level wellness in the planetary health paradigmHere, we discuss the relevance of planetary health in the era of personalized medicine, gross environmental concerns, and a crisis of non-communicable diseases
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Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort studyConception within 12 months of a stillbirth was common and was not associated with increased risk of adverse outcomes in the subsequent pregnancy
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Trial refresh: A case for an adaptive platform trial for pulmonary exacerbations of cystic fibrosisThis review will discuss the necessary steps required for a Bayesian adaptive platform trial to optimize treatment of pulmonary exacerbations of cystic fibrosis
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Reduced heart rate variability in adults with autism spectrum disorderOur data suggest an overall dysregulation in resting autonomic activity in adults with autism spectrum disorder