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The cumulative effect of inflammation and infection on structural lung disease in early cystic fibrosisPulmonary inflammation in surveillance bronchoalveolar lavage has a cumulative effect on structural lung disease extent, more so than infection
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Editorial: Insights Into Biomarkers, Cytokines, and Chemokines in Skin CancerOur current Research Topic highlights the complexity of the relationship between the skin, immune system and skin cancer
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Complexities of conducting research in adolescent refugees resettling in AustraliaAdolescent refugees resettling in Australia are a vulnerable and marginalised population and research to understand their health-care needs remains scarce
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Investing in school readiness: A comparison of different early childhood education pathways in rural IndonesiaThis paper documents that children in rural Indonesia participate in a great variety of early childhood education pathways
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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Tobacco smoking and mental disorders in Australian adolescentsThis study aimed to (1) examine the strength of the association between mental disorders/mental health problems, risk behaviours and tobacco smoking among Australian adolescents, (2) compare rates of tobacco smoking among Australian adolescents with major depressive disorder, attention-deficit/hyperactivity disorder and/or conduct disorder in 2013/14 vs 1998, and (3) identify the extent to which an association between tobacco smoking and mental health problems among adolescents can be attributed to non-mental health risk factors.
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Targeting cytokine- and therapy-induced PIM1 activation in preclinical models of T-cell acute lymphoblastic leukemia and lymphomaIL7 and glucocorticoids coordinately drive aberrant activation of PIM1 and suggests that T-ALL and T-LBL patients could benefit from PIM inhibition
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Germline Elongator mutations in Sonic Hedgehog medulloblastomaGenetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers
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Predicting outcome following mild traumatic brain injury: Protocol for the longitudinal, prospective, observational Concussion Recovery (CREST) cohort studyMild traumatic brain injury (mTBI) is a complex injury with heterogeneous physical, cognitive, emotional and functional outcomes. Many who sustain mTBI recover within 2 weeks of injury; however, approximately 10%-20% of individuals experience mTBI symptoms beyond this 'typical' recovery timeframe, known as persistent post-concussion symptoms (PPCS). Despite increasing interest in PPCS, uncertainty remains regarding its prevalence in community-based populations and the extent to which poor recovery may be identified using early predictive markers.