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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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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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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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Changes to the Gut Microbiome in Young Children Showing Early Behavioral Signs of AutismThe human gut microbiome has increasingly been associated with autism spectrum disorder (ASD), which is a neurological developmental disorder, characterized by impairments to social interaction.
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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.
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Assessing functioning for individuals with neurodevelopmental conditions: Current clinical practice in AustraliaIn the disability sector globally, and specifically in Australia, assessments of functioning have become key to diagnostic processes, and accessing therapy and funding. Over half of all individuals accessing support through Australia's National Disability Insurance Scheme have a neurodevelopmental condition diagnosis.
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ALMA/ACA CO Survey of the IC 1459 and NGC 4636 Groups: Environmental Effects on the Molecular Gas of Group GalaxiesWe present new results of a 12CO(J = 1-0) imaging survey using the Atacama Compact Array (ACA) for 31 H i detected galaxies in the IC 1459 and NGC 4636 groups. This is the first CO imaging survey for loose galaxy groups.
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Interactions between the lipidome and genetic and environmental factors in autismAutism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank.
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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncologyThe large diversity of central nervous system (CNS) tumor types in children and adolescents results in disparate patient outcomes and renders accurate diagnosis challenging. In this study, we prospectively integrated DNA methylation profiling and targeted gene panel sequencing with blinded neuropathological reference diagnostics for a population-based cohort of more than 1,200 newly diagnosed pediatric patients with CNS tumors, to assess their utility in routine neuropathology.
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Modalities of group A streptococcal prevention and treatment and their economic justificationInfection by group A Streptococcus (Strep A) results in a diverse range of clinical conditions, including pharyngitis, impetigo, cellulitis, necrotising fasciitis, and rheumatic heart disease. In this article, we outline the recommended strategies for Strep A treatment and prevention and review the literature for economic evaluations of competing treatment and prevention strategies.