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Research

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other pa

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Reframe the Behaviour: Evaluation of a training intervention to increase capacity in managing detained youth with fetal alcohol spectrum disorder and neurodevelopmental impairments

Jonathan Hayley Raewyn Carol Carapetis AM Passmore Mutch Bower AM MBBS FRACP FAFPHM PhD FAHMS BCrim, BAPsych(Hons), PhD MBChB., DipRACOG., Cert.HPRT,

Research

Nasopharyngeal density of respiratory viruses in childhood pneumonia in a highly vaccinated setting: findings from a case-control study

Detection of pneumonia-causing respiratory viruses in the nasopharynx of asymptomatic children has made their actual contribution to pneumonia unclear. We compared nasopharyngeal viral density between children with and without pneumonia to understand if viral density could be used to diagnose pneumonia.

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Literacy and Numeracy Underachievement in Boys and Girls With ADHD

Children with ADHD are disadvantaged from an early age in key areas of learning, and this risk increased with reduction in gestational age at birth

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COPD-related modification to the airway epithelium permits intracellular residence of nontypeable haemophilus influenzae

Our findings indicate that COPD, cigarette smoke and macrolide antibiotics potentiate the susceptibility to persistent intracellular NTHi

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Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows

Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase

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Human genetics of leishmania infections

GWAS results provide firm confirmation for the importance of antigen presentation and the regulation of IFNγ in determining the outcome of Leishmania infections

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Decreased Physical Working Capacity in Adolescents With Nonalcoholic Fatty Liver Disease Associates With Reduced Iron Availability

In a well-defined cohort of adolescents, we found non-alcoholic fatty liver disease to be associated with decreased cardiorespiratory fitness, independent of BMI

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Immune function during early adolescence positively predicts adult facial sexual dimorphism in both men and women

Our results support a fundamental assumption that facial sexual dimorphism is an indicator of immune function during the development of facial sexual dimorphism