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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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‘Black Out Rage Gallon’ (aka borg): An investigation of a risky drinking trend on TikTokA 'Black Out Rage Gallon' (borg) is a customised, individual alcoholic beverage popularised on TikTok, whereby half the water in a gallon jug is replaced with alcohol (usually spirits), flavourings, electrolytes and caffeine. We investigated the characteristics and portrayal of the emerging alcohol trend associated with the hashtag descriptor #borg on TikTok.
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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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Changes in the clinical and epidemiological features of group A streptococcal bacteraemia in Australia's northern territoryWe aimed to measure the incidence and severity of invasive Group A Strep disease in the NT since 1996.
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A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab FamilyWe performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...
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Setting the RECORD straight: Developing a guideline for the reporting of studies conducted using observational routinely collected dataThere has been a dramatic increase in the availability of "routine data" for research purposes, including data from electronic medical records,...
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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunityTo gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2...
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Associations between maternal antioxidant intakes in pregnancy and infant allergic outcomesAntioxidant intakes in pregnancy may influence fetal immune programming and the risk of allergic disease.
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Sugar sweetened beverage consumption by Australian children: Implications for public health strategyHigh consumption of sugar sweetened beverages (SSBs) has been linked to unhealthy weight gain and nutrition related chronic disease.
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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationThis study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...