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Twenty years of surveillance in Rett syndrome: what does this tell us?This study aimed to describe overall survival and adult health in those with Rett syndrome.
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Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of BrazilThis paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles...
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The correlation between reading and mathematics ability at age twelve has a substantial genetic componentDissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.
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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...
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Epigenome-wide association study reveals longitudinally stable DNA methylation differences in CD4+ T cells from children with IgE-mediated food allergyFood allergy is mediated by a combination of genetic and environmental risk factors, potentially mediated by epigenetic mechanisms.
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Assessment and management of hypoglycemia in children and adolescents with diabetesThis paper provides clinical practice guidelines for treating low blood sugar in children and adolescents with Type 1 diabetes.
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Keyhole limpet haemocyanin - A model antigen for human immunotoxicological studiesThis report systematically reviews the human clinical studies that have used trans-cutaneous KLH immunization for assessment of the influence of various...
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The collective impact of rare diseases in Western Australia: An estimate using a population-based cohortThis cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs
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Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015We identified a high proportion of cases without known cause, highlighting the need for clinicians to carefully investigate all possibilities, including emerging infections.
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An atlas of human long non-coding RNAs with accurate 5′ endsCombining these findings with conservation data, we identify 19,175 potentially functional lncRNAs in the human genome.