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Research

Tobacco smoking and mental disorders in Australian adolescents

This 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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Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers

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Differences in stroke risk and cardiovascular mortality for Aboriginal and other Australian patients with atrial fibrillation

Stroke risk and cardiovascular mortality are markedly higher for Aboriginal than non-Aboriginal patients with atrial fibrillation, particularly for patients under 60

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Rheumatic heart disease in pregnancy: Profile of women admitted to a Western Australian tertiary obstetric hospital

This retrospective study assessed maternal and perinatal outcomes for women with rheumatic heart disease admitted to the largest tertiary obstetric hospital

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Higher frequency of vertebrate-infecting viruses in the gut of infants born to mothers with type 1 diabetes

We demonstrate a distinct gut virome profile in infants of mothers with type 1 diabetes, which may influence health outcomes later in life

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The detection of bile acids in the lungs of paediatric cystic fibrosis patients is associated with altered inflammatory patterns

Our work has identified a clinically relevant host-derived factor that may participate in shaping early events in the aetiology of CF respiratory disease

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A spatio-temporal analysis to identify the drivers of malaria transmission in Bhutan

Hot spots and clusters of both species were isolated in the central southern part of Bhutan bordering India

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Volatiles or TIVA: Which is the standard of care for pediatric airway procedures? A pro-con discussion

This pro-con discussion examines both volatiles and TIVA, from the perspective of effectiveness, safety, cost, and environmental impact,

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A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome 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 population

Exome 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.