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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.
Research
Prenatal alcohol and tobacco use and the risk of depression in offspring at age of 17 years: findings from the Raine StudyPrenatal alcohol and tobacco exposures have been associated with adverse mental health consequences in offspring. The objective of this study was to test the associations between maternal prenatal alcohol and tobacco exposures and depressive symptoms in the offspring, adjusting for a wide range of potential confounders.
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Associations of prenatal alcohol exposure and offspring harmful alcohol use: findings from the Raine StudyEpidemiological evidence suggests offspring exposed to prenatal alcohol are at increased risk of alcohol use disorders in adulthood. The evidence on the risk of developing harmful alcohol use in adolescence is less clear.
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SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases ProgramThe accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
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Adolescent education outcomes and maltreatment: The role of pre-existing adversity, level of child protection involvement, and school attendanceMaltreated children are at high risk for low educational achievement, however few studies have accounted for confounding risk factors that commonly co-occur (including child, family and neighbourhood risk factors) and results have been mixed, particularly for adolescents.
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Decoding Susceptibility to Respiratory Viral Infections and Asthma Inception in ChildrenHuman Respiratory Syncytial Virus and Human Rhinovirus are the most frequent cause of respiratory tract infections in infants and children and are major triggers of acute viral bronchiolitis, wheezing and asthma exacerbations.
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The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophyPURPOSE: To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements.
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Meta-analysis of the neural correlates of vigilant attention in children and adolescentsVigilant Attention (VA), defined as the ability to maintain attention to cognitively unchallenging activities over a prolonged period of time, is critical to support higher cognitive functions and many behaviours in our everyday life. Evidence has shown that VA rapidly improves throughout childhood and adolescence until young adulthood and tends to decline in older adulthood.
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Long-term economic outcomes for interventions in early childhood: protocol for a systematic reviewInvestment in early childhood produces positive returns: for the child, the family and the community.
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Associations Among Early Stimulation, Stunting, and Child Development in Four Countries in the East Asia–PacificThis study examined associations among preschool attendance, home learning activities, stunting status, and early child development using data from the validation study of the East Asia–Pacific Early Child Development Scales (EAP-ECDS).