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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
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The end rheumatic heart disease in Australia study of epidemiology (ERASE) project: Data sources, case ascertainment and cohort profileThe ERASE Project has created an unprecedented linked administrative database on acute rheumatic fever and rheumatic heart disease in Australia
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Empathy for others’ pain is disrupted at the neurophysiological level in schizophreniaThese data suggest that empathy for pain is disrupted at the neurophysiological level in schizophrenia
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Influenza epidemiology in patients admitted to sentinel Australian hospitals in 2018: the Influenza Complications Alert Network (FluCAN)This report summarises the epidemiology of hospitalisations with laboratory-confirmed influenza during the 2018 influenza season
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Gender differences in time allocation contribute to differences in developmental outcomes in children and adolescentsUsing over 50 thousand time-use diaries from two cohorts of children, we document significant gender differences in time allocation in the first 16 years in life. Relative to males, females spend more time on personal care, chores and educational activities and less time on physical and media related activities. These gender gaps in time allocation appear at very young ages and widen overtime.
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“It Was Such a Different Experience”: a Qualitative Study of Parental Perinatal Experiences When Having a Subsequent Child After Having a Child Diagnosed with AutismChildren who have an older sibling diagnosed with autism have an increased likelihood of being diagnosed with autism or developing broader developmental difficulties. This study explored perinatal experiences of parents of a child diagnosed with autism, spanning pre-conception until the subsequent child’s early developmental period.
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Gender-Neutral Toilets: A Qualitative Exploration of Inclusive School Environments for Sexuality and Gender Diverse Youth in Western AustraliaSchool toilets have been identified by sexuality and gender diverse (SGD) students as the least safe spaces in educational institutions. They are sites of verbal, physical and sexual victimisation.
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Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander peopleGlobally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.
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Supporting the Social-Emotional Well-Being of Elementary School Students Who Are Deaf and Hard of Hearing: A Pilot StudyChildren who are Deaf and Hard of Hearing, their parents, Teachers of the Deaf, and other community stakeholders were involved in co-designing a web-based resource to support students' social-emotional well-being.
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Perceptions of a family-based lifestyle intervention for children with overweight and obesity: a qualitative study on sustainability, self-regulation, and program optimizationFamily-based lifestyle interventions (FBLIs) are an important method for treating childhood weight problems. Despite being recognized as an effective intervention method, the optimal structure of these interventions for children’s overweight and obesity has yet to be determined.