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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
North Pacific humpback whales are a celebrated conservation success, rebounding from extensive commercial whaling. Yet they remain vulnerable to the impacts of climate change, a multifaceted stressor that can exacerbate existing threats. During 2013–2016, a Northeast Pacific marine heatwave severely reduced forage availability in their feeding grounds, concurrent with diminished whale recruitment and increased mortality. We an...
Spatial Genetic Structure and Diversity Reveal Central‐Marginal Patterns in the Rare Freshwater Mussel, Pleurobema riddelliiNARA Subscribed
Aim This study sought to evaluate how historical drainage connectivity and contemporary basin isolation have shaped population genetic structure and diversity in an imperilled species of freshwater mussel, Pleurobema riddellii. Location Covers the range of P. riddellii , spanning seven river basins of the Gulf Coastal Plains of the southern USA, including the San Jacinto, Neches, Sabine, Calcasieu, Red, Ouachita and Pearl rive...
The recreational fishery for pollack ( Pollachius pollachius ) in the northeast Atlantic is impacted by the species' high sensitivity to barotrauma. When captured at depth and brought to the surface, gas expansion within the peritoneal cavity can cause a variety of injuries and hinder release. Via an experimental weighted cage, this study evaluated the efficacy of releasing Pollack at depth as a barotrauma mitigation strategy....
Aim We investigate the distribution of dispersal modes — endozoochory (via animal ingestion), synzoochory (via animal seed accumulation) and anemochory (via wind)—and seed mass of woody plants across Brazilian ecosystems, testing whether their relative abundance in local plant communities could be predicted by climate, edaphic factors and dispersal agents (e.g., the main vectors moving seeds). We expected climate to be the mai...
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...
A 25-year study (1994–2019) of starfish in Lough Hyne, Europe’s first statutory marine reserve, in SW Ireland documents a highly fluctuating but overall proliferation of spiny starfish ( Marthasterias glacialis ), a virtual disappearance of the common starfish ( Asterias rubens ), and low-level fluctuations of cushion stars ( Asterina spp.). Although explosive recruitment booms and subsequent declines of M. glacialis in shallo...
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...
Metabolic cost of external work: a novel CPET parameter optimises characterisation of exercise performance in obese individualsNARA Subscribed
Purpose Both obesity and cardiorespiratory fitness are crucial determinants of symptoms and prognosis. However, interpreting the gold-standard cardiopulmonary exercise test (CPET) is complicated by increasing body size and varying body composition. We hypothesised that the ‘metabolic cost of external work’ (or oxygen uptake (ml/min)/workload (Watts); V̇O 2 /W), a body weight-independent determinant of endurance capacity, would...
Background As the number of BME clinical immersion experiences expands across university curricula, there is a growing opportunity for BME educators to share practical insights gained from implementing clinical immersion courses. Despite the growing scholarship exploring BME clinical immersions, a significant need for robust exploration remains as we work to understand the impact of such programs on student learning. Purpose T...
Waterfowl Move Less in Heterogeneous and Human‐Populated Landscapes, With Implications for Spread of Avian Influenza VirusesNARA Subscribed
Animal movements contribute to the spread of infectious diseases and are driven in part by environmental conditions. We investigated the links among the environment, animal movement, and infectious disease dynamics in waterfowl, which are among the primary wildlife hosts of avian influenza viruses. By combining telemetry data on 4606 individuals from 26 waterfowl species with data on land cover, weather, and vegetation, we fou...