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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic DataExpanded 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 workflowsSystematic 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 influenzaeOur findings indicate that COPD, cigarette smoke and macrolide antibiotics potentiate the susceptibility to persistent intracellular NTHi
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Methylome-wide association study of central adiposity implicates genes involved in immune and endocrine systemsWe conducted a methylome-wide association study to examine associations between DNA methylation in whole blood and central adiposity and body fat distribution, measured as waist circumference, waist-to-hip ratio and waist-to-height ratio adjusted for body mass index, in 2684 African-American adults in the Atherosclerosis Risk in Communities study.
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Durvalumab with first-line chemotherapy in previously untreated malignant pleural mesothelioma (DREAM): a multicentre, single-arm, phase 2 trial with a safety run-inThere is a strong unmet need to improve systemic therapy in mesothelioma. Chemotherapy with cisplatin and pemetrexed improves survival in malignant pleural mesothelioma, and immune checkpoint inhibitors are an emerging treatment in this disease. We aimed to evaluate the activity of durvalumab, an anti-PD-L1 antibody, given during and after first-line chemotherapy with cisplatin and pemetrexed in patients with advanced malignant pleural mesothelioma.
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Literacy and Numeracy Underachievement in Boys and Girls With ADHDChildren 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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Reframe the Behaviour: Evaluation of a training intervention to increase capacity in managing detained youth with fetal alcohol spectrum disorder and neurodevelopmental impairmentsJonathan Hayley Raewyn Carol Carapetis AM Passmore Mutch Bower AM MBBS FRACP FAFPHM PhD FAHMS BCrim, BAPsych(Hons), PhD MBChB., DipRACOG., Cert.HPRT,
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Clinical description and outcomes of Australian children with invasive group a streptococcal diseaseInvasive group A streptococcal infection in Australian children is frequently severe and has a high long-term morbidity burden
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Exploring enablers and barriers to accessing health services after a fall among people with intellectual disabilityThere is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability
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Structural determinants of long term functional outcomes in young children with cystic fibrosisChest CT identifies children at an early age who have adverse long-term outcomes