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Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genesNARA Subscribed
Dyslexia is a specific difficulty in learning to read that affects 5–10% of school-aged children and is strongly influenced by genetic factors. While previous studies have identified common genetic variants associated with dyslexia, the role of rare variants has only recently begun to emerge from pedigree studies and has yet to be systematically tested in larger cohorts. Here, we present a whole-exome sequencing (WES) study of...
Controversy and consensus: common ground and best practices for life cycle assessment of emerging technologiesNARA Subscribed
Public and private interest in life cycle assessment (LCA) has grown as environmental disclosure norms tighten, driving demand for decision-relevant assessment early in technological development cycles. Early-stage LCA has the potential to guide design choices, steer innovation, and mitigate lock-in of adverse environmental impacts. However, many aspects of early-stage LCA practice remain unsettled. We convened experts in a se...
Population size estimation is critical for determining sustainable harvest levels of hunted species. Spatial capture-recapture via non-invasive genetic sampling is one method employed to estimate population size and is especially useful in habitats where aerial surveys are not possible. Developments in DNA sequencing technologies have led to the application of amplicon-based genotyping-in-thousands by sequencing (GTseq) for ge...
Diagnosing Linearity Along the Carbon Cascade in Terrestrial Biosphere Models and ObservationsNARA Subscribed
Elevated carbon dioxide (eCO 2 ) acts as a fertiliser for photosynthesis, driving an increase in gross primary production (GPP). However, it is unclear how effectively increased GPP propagates along the ‘carbon (C) cascade’ to increase net primary production (NPP) and vegetation C stocks ( C veg ) in different plant compartments. Vegetation models were criticised for being overly sensitive to photosynthesis (source‐driven), ne...
CLC F , Not CrcB , Protects Pseudomonas putida ATCC 12633 During Intense Fluoride StressNARA Subscribed
Fluoride is abundant in the Earth's crust but is rarely used by biological systems and is toxic inside cells. Most prokaryotic genomes contain genes encoding fluoride export channels, known as CrcB, or fluoride/proton antiporters, known as CLC F . Prokaryotes rely on one type only. In this study, Pseudomonas putida ATCC 12633 that natively expressed a chromosomally‐encoded CrcB was engineered with plasmids containing a CLC F e...
Continental‐wide prioritization of protected areas to address global and habitat‐specific goals for avian biodiversity conservationNARA Subscribed
The United Nations and European Union have set ambitious conservation goals to halt and reverse declines in biodiversity by protecting 30% of land and sea areas by 2030. Effective conservation planning requires evidence‐based spatial prioritization to maximize the coverage of species within designated protected areas. Based on a pan‐European database for occurrence and abundance of breeding birds collected in the 2010s, we app...
Interpretable deep learning reveals spatiotemporal MRI features of brain aging that align with neurodegenerationNARA Subscribed
Cortical thinning and atrophy are hallmarks of brain aging that have been characterized using magnetic resonance imaging (MRI). Brain aging involves many neuroanatomic features whose effects on brain structure remain unexplored. To address this challenge, we trained interpretable deep neural networks (DNNs) to estimate brain age (BA) from T 1 -weighted ( T 1 w) MRI. By identifying MRI features unapparent to humans, DNNs can fi...
Background Despite important advancements in diagnostic modalities, routine use of therapeutic drug monitoring (TDM) and newer antifungal therapies, there is a paucity of contemporary data regarding clinical characteristics and outcomes of invasive aspergillosis (IA) in the United States. Methods Single-center, retrospective cohort study of hospitalized patients between 2015 and 2020, who had active hematological malignancy (H...
SNAPSHOT USA 2024: Year 6 of the Coordinated National Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multi‐contributor camera trap survey of mammals across the United States. The growing SNAPSHOT USA dataset is intended for tracking the spatial and temporal responses of mammal populations to changes in land use, land cover and climate. These data will be useful for exploring the drivers of spatial and temporal changes in relative abundance and distribution, as well as the impacts of speci...
Alzheimer’s disease (AD) disproportionately affects women and carriers of the apolipoprotein E ε4 allele (APOE4), yet little is known about how sex and APOE interact to influence white matter (WM) integrity during disease progression. We integrated diffusion MRI and matched blood transcriptomic data to investigate these interactions and their underlying biological mechanisms. WM microstructure was quantified using diffusion te...