David Frei results 18
· Newest (Page 1/1, per page 25)
Author: David Frei ×Clear All Filters
Search Results
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22–24 January 2025NARA Subscribed
Genomics is transforming health care but its implementation raises challenges. This paper reports a 2025 workshop on justice in the implementation of genomics for rare disorders. The workshop goals were to develop a consensus understanding of the problems faced by rare disease patients and families where justice is at stake, to achieve a shared perspective on support for rare disease patients, and to consider the implications...
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestationNARA Subscribed
Loss-of-function variants in AP3D1 have been linked to Hermansky–Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss (HL), and neurological abnormalities, fatal in early childhood. Here, we report a consanguineous family who presented with presumably isolated autosomal recessive (AR) HL. Whole-exome sequencing was performed o...
Anthropogenic disturbances of ecosystems are causing a loss of biodiversity at an unprecedented rate. Species extinctions often leave ecological niches underutilized, and their colonization by other species may require new adaptation. In Lake Constance, on the borders of Germany, Austria and Switzerland, an endemic profundal whitefish species went extinct during a period of anthropogenic eutrophication. In the process of extin...
Global maps of soil temperatureNARA Subscribed
Research in global change ecology relies heavily on global climatic grids derived from estimates of air temperature in open areas at around 2 m above the ground. These climatic grids do not reflect conditions below vegetation canopies and near the ground surface, where critical ecosystem functions occur and most terrestrial species reside. Here, we provide global maps of soil temperature and bioclimatic variables at a 1‐km 2 r...
SoilTemp: A global database of near‐surface temperatureNARA Subscribed
Current analyses and predictions of spatially explicit patterns and processes in ecology most often rely on climate data interpolated from standardized weather stations. This interpolated climate data represents long‐term average thermal conditions at coarse spatial resolutions only. Hence, many climate‐forcing factors that operate at fine spatiotemporal resolutions are overlooked. This is particularly important in relation to...
Molecular analysis indicates high levels of carabid weed seed consumption in cereal fields across Central EuropeNARA Subscribed
Carabid beetles are abundant in temperate agroecosystems and can play a pivotal role as biocontrol agents. While there is good knowledge regarding their effects on invertebrate pests in some systems, comparably little is known on the rate of seed feeding under field conditions. Molecular approaches are ideally suited for investigating carabid feeding interactions; to date, however, they have only been applied to animal prey. W...
Motivation The Tundra Trait Team (TTT) database includes field‐based measurements of key traits related to plant form and function at multiple sites across the tundra biome. This dataset can be used to address theoretical questions about plant strategy and trade‐offs, trait–environment relationships and environmental filtering, and trait variation across spatial scales, to validate satellite data, and to inform Earth system mo...
Closing the global ozone yield gap: Quantification and cobenefits for multistress toleranceNARA Subscribed
Increasing both crop productivity and the tolerance of crops to abiotic and biotic stresses is a major challenge for global food security in our rapidly changing climate. For the first time, we show how the spatial variation and severity of tropospheric ozone effects on yield compare with effects of other stresses on a global scale, and discuss mitigating actions against the negative effects of ozone. We show that the sensitiv...
North American snow extent: 1900–1994NARA Subscribed
North American snow extent: 1900-1994NARA Subscribed
Previous1Next