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Research

Validation of a rapid, saliva-based, and ultra-sensitive SARS-CoV-2 screening system for pandemic-scale infection surveillance

Without any realistic prospect of comprehensive global vaccine coverage and lasting immunity, control of pandemics such as COVID-19 will require implementation of large-scale, rapid identification and isolation of infectious individuals to limit further transmission. Here, we describe an automated, high-throughput integrated screening platform, incorporating saliva-based loop-mediated isothermal amplification (LAMP) technology, that is designed for population-scale sensitive detection of infectious carriers of SARS-CoV-2 RNA.

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Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing Symptoms

To investigate the genetic architecture of internalizing symptoms in childhood and adolescence.

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Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

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Pineal morphology of the clinical high-risk state for psychosis and different psychotic disorders

Pineal volume reductions have been reported in schizophrenia and clinical high-risk states for the development of psychosis, supporting the role of melatonin dysregulation in the pathophysiology of psychosis.

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Longitudinal audit of assessment and pharmaceutical intervention for cardiovascular risk in the Australasian Diabetes Data Network

Tim Liz Jones Davis MBBS DCH FRACP MD MBBS FRACP PhD Co-head, Diabetes and Obesity Research Co-director of Children’s Diabetes Centre Co-head,

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Interventions to Improve Child Physical Activity in the Early Childhood Education and Care Setting: An Umbrella Review

Early childhood education and care (ECEC) services are a key setting to support improvements in the physical activity of young children. This umbrella review gathered and synthesised systematic review evidence of the effectiveness of interventions in the ECEC setting on the physical activity levels of children aged 0–6.

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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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Patterns of recurrent preterm birth in Western Australia: A 36-year state-wide population-based study

It is known that a previous preterm birth increases the risk of a subsequent preterm birth, but a limited number of studies have examined this beyond two consecutive pregnancies. This study aimed to assess the risk and patterns of (recurrent) preterm birth up to the fourth pregnancy.

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Sleep Disordered Breathing and Recurrent Tonsillitis Are Associated With Polymicrobial Bacterial Biofilm Infections Suggesting a Role for Anti-Biofilm Therapies

The underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need to be elucidated to develop less invasive treatment and prevention strategies.