R. Hull results 69
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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...
Dormancy is usually understood as a strategy for coping with extrinsic environmental variation, but intrinsic population fluctuations also create conditions where dormancy is adaptive. By analysing simple population models, we show that population fluctuations favour the evolution of dormancy, but dormancy stabilises population dynamics. This sets up a feedback loop that can enable the coexistence of alternative dormancy strat...
Studies of the resident community of bottlenose dolphins ( Tursiops truncatus ) of Sarasota Bay, Florida, have been conducted for more than 50 years. Detailed histories have been collected for resident individuals through integrated observations, systematic photographic identification surveys, tagging and tracking, catch-and-release health assessments, remote biopsy sampling, and stranding response. This has produced a unique...
A framework and process for community-engaged, mixed-methods cancer needs assessmentsNARA Subscribed
Purpose Community health needs assessments are required for most state and local public health agencies and non-profit hospitals. Typically based on community health improvement planning models, these assessments encompass overall community health and multiple diseases to inform program planning. National Cancer Institute (NCI)-designated Cancer Centers and community-based cancer-focused programs share the goal of reducing can...
Movescapes and eco‐evolutionary movement strategies in marine fish: Assessing a connectivity hotspotNARA Subscribed
Data from the Integrated Tracking of Aquatic Animals in the Gulf of Mexico (iTAG) network, and sister networks, were used to evaluate fish movements in the Florida Keys—an extensive reef fish ecosystem just north of Cuba connecting the Atlantic Ocean and Gulf of Mexico. We analysed ~2 million detections for 23 species, ranging from reef fish such as Nassau grouper ( Epinephelus striatus , Serranidae) to migratory apex predator...
Intracerebral hemorrhage (ICH) and perihematomal edema (PHE) volumes are major determinants of ICH outcomes as is the immune system which plays a significant role in damage and repair. Thus, we performed whole-transcriptome analyses of 18 ICH patients to delineate peripheral blood genes and networks associated with ICH volume, absolute perihematomal edema (aPHE) volume, and relative PHE (aPHE/ICH; rPHE). We found 440, 266, and...
Exploring Ocean Biogeochemistry Using a Lab-on-Chip Phosphate Analyser on an Underwater GliderOA Marine
The ability to make measurements of phosphate (PO 4 3– ) concentrations at temporal and spatial scales beyond those offered by shipboard observations offers new opportunities for investigations of the marine phosphorus cycle. We here report the first in situ PO 4 3– dataset from an underwater glider (Kongsberg Seaglider) equipped with a PO 4 3– Lab-on-Chip (LoC) analyser. Over 44 days, a 120 km transect was conducted in the no...
Small cetaceans face persistent threats from fisheries interactions, making effective mitigation a priority for conservation. In southwest Florida, interactions come primarily from small-scale recreational hook and line and trap/pot fisheries, with regional stranding network partners working with federal agency managers to assess and intervene as possible in cases of live animal entanglement. Evaluating success of intervention...
The whitespotted eagle ray Aetobatus narinari is a tropical to warm‐temperate benthopelagic batoid that ranges widely throughout the western Atlantic Ocean. Despite conservation concerns for the species, its vertical habitat use and diving behaviour remain unknown. Patterns and drivers in the depth distribution of A. narinari were investigated at two separate locations, the western North Atlantic (Islands of Bermuda) and the e...
Phylogenomics and species delimitation for effective conservation of manta and devil raysNARA Subscribed
Practical biodiversity conservation relies on delineation of biologically meaningful units. Manta and devil rays (Mobulidae) are threatened worldwide, yet morphological similarities and a succession of recent taxonomic changes impede the development of an effective conservation strategy. Here, we generate genome‐wide single nucleotide polymorphism (SNP) data from a geographically and taxonomically representative set of manta a...
Addressing identity‐related barriers to collaboration for conservation through self‐affirmation theory and moral foundations theoryNARA Subscribed
The natural resource management literature documents many reasons for pursuing collaborative processes, offering useful insights on how to manage conflict and facilitate productive deliberation in complex multistakeholder collaborative efforts. Moral foundations theory and self‐affirmation theory can further help collaborative efforts mitigate conflicts caused by identity threats and the identity‐protective reasoning these thr...
Arsenic contamination of lakebed sediments is widespread due to a range of human activities, including herbicide application, waste disposal, mining, and smelter operations. The threat to aquatic ecosystems and human health is dependent on the degree of mobilization from sediments into overlying water columns and exposure of aquatic organisms. We undertook a mechanistic investigation of arsenic cycling in two impacted lakes wi...