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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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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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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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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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Overcoming the challenges of caring for a child with foetal alcohol spectrum disorder: a Pilbara community perspective

The caregivers in this study have gained valuable knowledge and wisdom through caring for a child with FASD

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Upper Airway Pathology Contributes to Respiratory Symptoms in Children Born Very Preterm

The upper airway may play a role in the respiratory symptoms experienced by some very preterm children and should be considered by clinicians

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Effect of Fluoxetine on Obsessive-Compulsive Behaviors in Children and Adolescents With Autism Spectrum Disorders: A Randomized Clinical Trial

Treatment with fluoxetine compared with placebo resulted in significantly lower scores for obsessive-compulsive behaviors at 16 weeks

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Hospitalisations for maternal assault are associated with increased risk of child protection involvement

Child maltreatment allegation is common in children following a maternal hospitalisation for assault

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Soy Biodiesel Exhaust is More Toxic than Mineral Diesel Exhaust in Primary Human Airway Epithelial Cells

Exposure to biodiesel exhaust resulted in significantly greater cell death and a greater release of immune mediators compared to both air controls and ULSD exhaust