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        Linking FANTOM5 CAGE peaks to annotations with CAGEscan

        Here, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources ...

        Research

        Online interventions for the mental health needs of trans and gender diverse young people

        Members of our research team have done an online survey (Trans Pathways) exploring the mental health and care pathways of gender diverse youth in Australia. ...

        Research

        Associations between proposed local government liquor store size classifications and alcohol consumption in young adults

        Young adults' alcohol consumption appears to be impacted by liquor store density and convenience, rather than outlet size ...

        Research

        CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

        Over 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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        Trends and burden of diabetes in pregnancy among Aboriginal and non-Aboriginal mothers in Western Australia, 1998-2015

        Diabetes in pregnancy (DIP), which includes pre-gestational and gestational diabetes, is more prevalent among Aboriginal women. DIP and its adverse neonatal outcomes are associated with diabetes and cardiovascular disease in the offspring. ...

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        Mandatory fortification with folic acid for the prevention of neural tube defects: a case study of Australia and New Zealand

        To present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand. ...

        Research

        Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in Brazil

        This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

        Research

        No role for neutrophil elastase in influenza-induced cellular recruitment, cytokine production or airway hyperresponsiveness in mice

        Alexander Larcombe A BScEnv (Hons) PhD Team Leader, Respiratory Environmental Health Team Leader, Respiratory Environmental Health Authors: Foong RE, Sly PD, Larcombe AN, Zosky GR Authors notes: Respiratory Physiology and Neurobiology 2010;173:164- ...

        Research

        Association of pre-pregnancy weight and birth defects

        Association of pre-pregnancy weight, birth defects ...

        Research

        Genetics of Otitis Media

        Sarra Jenefer Jamieson Blackwell SE JM BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Senior Research Fellow Head, Genetics & Health sarra.jamieson@telethonkids.org.au Jenefer.Blackwell@telethonkids.org.au Senior Research ...

        Research

        Chemical analysis of new and “aged” e-liquids: Development of a rapid toxicological screening approach

        Alexander Larcombe A BScEnv (Hons) PhD Team Leader, Respiratory Environmental Health Team Leader, Respiratory Environmental Health Associate Professor Alexander Larcombe began work at the Telethon Institute in 2005 and is now a Senior Research ...

        Research

        Lung function in a model of a paediatric metabolic disease

        Alexander Larcombe A BScEnv (Hons) PhD Team Leader, Respiratory Environmental Health Team Leader, Respiratory Environmental Health Associate Professor Alexander Larcombe began work at the Telethon Institute in 2005 and is now a Senior Research ...

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