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Research

Recovery of chloroplast genomes from medieval millet grains excavated from the Areni-1 cave in southern Armenia

Panicum miliaceum L. was domesticated in northern China at least 7000 years ago and was subsequentially adopted in many areas throughout Eurasia. One such locale is Areni-1 an archaeological cave site in Southern Armenia, where vast quantities archaeobotanical material were well preserved via desiccation.

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Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

Reading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies.

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Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing.

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

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Inhibition of the master regulator of Listeria monocytogenes virulence enables bacterial clearance from spacious replication vacuoles in infected macrophages

A hallmark of Listeria (L.) monocytogenes pathogenesis is bacterial escape from maturing entry vacuoles, which is required for rapid bacterial replication in the host cell cytoplasm and cell-to-cell spread. The bacterial transcriptional activator PrfA controls expression of key virulence factors that enable exploitation of this intracellular niche.

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Seasonal variation in fetal growth: Accounting for sociodemographic, biological, and environmental exposures

We sought to investigate seasonal variation in fetal growth, accounting for important sociodemographic, biological, and environmental exposures.

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Personalized transcriptomics reveals heterogeneous immunophenotypes in children with viral bronchiolitis

Dysregulated expression of IFN-dependent pathways after respiratory viral infections is a defining immunophenotypic feature of AVB-susceptible infants

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Outcomes following a behaviour change intervention within hospitals to improve birth registrations and hospital utilisation for Aboriginal and/or Torres Strait Islander infants

The primary objective was to determine whether a behaviour change intervention delivered to hospital staff would (1) improve the proportion of Aboriginal and/or Torres Strait Islander (Aboriginal) babies being registered and (2) reduce hospital admissions and emergency presentations for babies <6 months old. The secondary objective was an observational analysis to determine factors that might influence the proportion of registered Aboriginal births in Western Australia. 

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Increase in invasive group A streptococcal disease among Australian children coinciding with northern hemisphere surges

Increases in invasive group A streptococcal disease (iGAS) have recently been reported in multiple countries in the northern hemisphere, occurring during, and outside of, typical spring peaks. We report the epidemiology of iGAS among children in Australia from 1 July 2018 to 31 December 2022.

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Determining the true incidence of seasonal respiratory syncytial virus-confirmed hospitalizations in preterm and term infants in Western Australia

Respiratory syncytial virus contributes to significant global infant morbidity and mortality. We applied a previously developed statistical prediction model incorporating pre-pandemic RSV testing data and hospital admission data to estimate infant RSV-hospitalizations by birth month and prematurity, focused on infants aged <1 year.