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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 peopleThe use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered.
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Psychological Wellbeing Amongst Parents of Trans Children: An in-Depth Qualitative InvestigationResearch has shown that parents of trans children face numerous challenges as they navigate their parenting role, however, little is known about the impact of these challenges on parents’ psychological wellbeing.
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An Evaluation of the Overall Utility of Measures of Functioning Suitable for School-Aged Children on the Autism Spectrum: A Scoping ReviewA diagnosis of an autism spectrum condition (autism) provides limited information regarding an individual’s level of functioning, information key in determining support and funding needs.
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Prospective longitudinal evaluation of treatment-related toxicity and health-related quality of life during the first year of treatment for pediatric acute lymphoblastic leukemiaPediatric acute lymphoblastic leukemia (ALL) therapy is accompanied by treatment-related toxicities (TRTs) and impaired quality of life. In Australia and New Zealand, children with ALL are treated with either Children's Oncology Group (COG) or international Berlin-Frankfurt-Munster (iBFM) Study Group-based therapy.
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Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemiaKMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia.
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Enhancing functional recovery for young people recovering from first episode psychosis via sport-based life skills training: outcomes of a feasibility and pilot studyEarly intervention within First Episode Psychosis (FEP) recovery efforts support functional recovery in several ways, including increasing levels of (1) physical activity (2) life skills, and (3) social connectivity. Sport has been proposed as an ideal platform to target these three goals simultaneously.
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What Heterogeneities in Individual-level Mobility Are Lost During Aggregation? Leveraging GPS Logger Data to Understand Fine-scale and Aggregated Patterns of MobilityHuman movement drives spatial transmission patterns of infectious diseases. Population-level mobility patterns are often quantified using aggregated data sets, such as census migration surveys or mobile phone data. These data are often unable to quantify individual-level travel patterns and lack the information needed to discern how mobility varies by demographic groups. Individual-level datasets can capture additional, more precise, aspects of mobility that may impact disease risk or transmission patterns and determine how mobility differs across cohorts; however, these data are rare, particularly in locations such as sub-Saharan Africa.
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Severe maternal morbidity following stillbirth in Western Australia 2000–2015: a population-based studyThere is scant literature about the management of stillbirth and the subsequent risk of severe maternal morbidity (SMM). We aimed to assess the risk of SMM associated with stillbirths compared with live births and whether this differed by the presence of maternal comorbidities.
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Comparative assessment of the human and animal health surveillance systems in Tanzania: Opportunities for an integrated one health surveillance platformGlobally, there have been calls for an integrated zoonotic disease surveillance system. This study aimed to assess human and animal health surveillance systems to identify opportunities for One Health surveillance platform in Tanzania.
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Participant experiences of intervention to detect and manage familial hypercholesterolaemia in Australian general practice: A qualitative descriptive studyGeneral practitioners (GPs) are ideally placed to have a much larger role in detection and management of familial hypercholesterolaemia (FH) among their patients. The aim of this study was to seek the reflections of practice staff and newly diagnosed patients with FH on the implementation of an FH model of care in the general practice setting.