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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
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Maternal diet during breastfeeding: Could it influence food allergy risk in children?Human milk is rich in immuno-modulatory factors that have the potential to shape immune development and influence allergy risk in children. In this article, we describe how breast milk may contribute to making the infant less prone to developing allergies.
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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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Not in employment, education or training (NEET); more than a youth policy issueAustralians who are Not in Employment, Education or Training (NEET) and receive income support span a wide spectrum of working ages. Australian research has concentrated on NEETs aged 15-29 years, in line with international standards. This paper investigates extending the NEET concept to include all working age persons 15-64 years and the value added to welfare policy through analysis of a new linked dataset.
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Vitamin D over the first decade and susceptibility to childhood allergy and asthmaWe aimed to research relationships between 25(OH)D levels from birth to 10 y/o and susceptibility to allergic sensitization, respiratory issues and asthma.
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Influence of maternal obesity on the long-term health of offspringIncluding immediate implications for pregnancy complications, increasing evidence implicates maternal obesity having a major impact on long term child health.
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Patterns of multiple risk exposures for low receptive vocabulary growth 4-8 years in the Longitudinal Study of Australian ChildrenOur results demonstrate a range of multiple risk profiles in a population-representative sample of Australian children and highlight the mix of risk factors faced by children
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Pneumococcal responses are similar in Papua New Guinean children aged 3-5 years vaccinated in infancy with pneumococcal polysaccharide vaccine with or without prior pneumococcal conjugate vaccine, or without pneumococcal vaccinationWe studied in a non-randomized follow-up trial the persistence of pneumococcal immunity in children, 3-5 years of age, in community controls of a similar age.
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Airway surface liquid pH is not acidic in children with cystic fibrosisModulation of ASL pH has been proposed as a therapy for CF. However, evidence that ASL pH is reduced in CF is limited and conflicting.
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Using record linkage to validate notification and laboratory data for a more accurate assessment of notifiable infectious diseasesStudies investigating pathogen-specific infectious disease would benefit from using multiple data sources.