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- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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- Wang, T, et al.
(författare)
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932-
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Tidskriftsartikel (refereegranskat)abstract
- Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
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| 6. |
- Balliu, Enkeleda, PhD student, et al.
(författare)
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High-efficiency radiation-balanced Yb-doped silica fiber laser with 200-mW output
- 2024
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Ingår i: Optics Letters. - : Optica Publishing Group. - 0146-9592 .- 1539-4794. ; 49:8, s. 2021-2024
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Tidskriftsartikel (refereegranskat)abstract
- The focus of this study was the development of a second generation of fiber lasers internally cooled by anti-Stokes fluorescence. The laser consisted of a length of a single-mode fiber spliced to fiber Bragg gratings to form the optical resonator. The fiber was single-moded at the pump (1040 nm) and signal (1064 nm) wavelengths. Its core was heavily doped with Yb, in the initial form of CaF2 nanoparticles, and co-doped with Al to reduce quenching and improve the cooling efficiency. After optimizing the fiber length (4.1 m) and output-coupler reflectivity (3.3%), the fiber laser exhibited a threshold of 160 mW, an optical efficiency of 56.8%, and a radiation-balanced output power (no net heat generation) of 192 mW. On all three metrics, this performance is significantly better than the only previously reported radiation-balanced fiber laser, which is even more meaningful given that the small size of the single-mode fiber core (7.8-µm diameter). At the maximum output power (∼2 W), the average fiber temperature was still barely above room temperature (428 mK). This work demonstrates that with anti-Stokes pumping, it is possible to induce significant gain and energy storage in a small-core Yb-doped fiber while keeping the fiber cool.
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| 7. |
- Benavides, Raquel, et al.
(författare)
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The GenTree Leaf Collection : Inter- and intraspecific leaf variation in seven forest tree species in Europe
- 2021
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Ingår i: Global Ecology and Biogeography. - : John Wiley & Sons. - 1466-822X .- 1466-8238. ; 30:3, s. 590-597
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Tidskriftsartikel (refereegranskat)abstract
- Motivation Trait variation within species can reveal plastic and/or genetic responses to environmental gradients, and may indicate where local adaptation has occurred. Here, we present a dataset of rangewide variation in leaf traits from seven of the most ecologically and economically important tree species in Europe. Sample collection and trait assessment are embedded in the GenTree project (EU-Horizon 2020), which aims at characterizing the genetic and phenotypic variability of forest tree species to optimize the management and sustainable use of forest genetic resources. Our dataset captures substantial intra- and interspecific leaf phenotypic variability, and provides valuable information for studying the relationship between ecosystem functioning and trait variability of individuals, and the response and resilience of species to environmental changes. Main types of variable contained We chose morphological and chemical characters linked to trade-offs between acquisition and conservation of resources and water use, namely specific leaf area, leaf size, carbon and nitrogen content and their ratio, and the isotopic signature of stable isotope C-13 and N-15 in leaves. Spatial location and grain We surveyed between 18 and 22 populations per species, 141 in total, across Europe. Time period Leaf sampling took place between 2016 and 2017. Major taxa and level of measurement We sampled at least 25 individuals in each population, 3,569 trees in total, and measured traits in 35,755 leaves from seven European tree species, i.e. the conifers Picea abies, Pinus pinaster and Pinus sylvestris, and the broadleaves Betula pendula, Fagus sylvatica, Populus nigra and Quercus petraea. Software format The data files are in ASCII text, tab delimited, not compressed.
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| 8. |
- Forslund, Tommie, et al.
(författare)
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El Apego Va a Juicio: Problemas de Custodia y Protección Infantil : [Attachment goes to court: Child protection and custody issues]
- 2021
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Ingår i: Anuario de psicología jurídica. - : Colegio Oficial de la Psicologia de Madrid. - 1133-0740 .- 2174-0542. ; 32:1, s. 115-139
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Tidskriftsartikel (refereegranskat)abstract
- Attachment theory and research are drawn upon in many applied settings, including family courts, but misunderstandings are widespread and sometimes result in misapplications. The aim of this consensus statement is, therefore, to enhance understanding, counter misinformation, and steer family-court utilisation of attachment theory in a supportive, evidence-based direction, especially with regard to child protection and child custody decision-making. This article is divided into two parts. In the first part, we address problems related to the use of attachment theory and research in family courts, and discuss reasons for these problems. To this end, we examine family court applications of attachment theory in the current context of the best-interest-of-the-child standard, discuss misunderstandings regarding attachment theory, and identify factors that have hindered accurate implementation. In the second part, we provide recommendations for the application of attachment theory and research. To this end, we set out three attachment principles: the child's need for familiar, non-abusive caregivers; the value of continuity of good-enough care; and the benefits of networks of attachment relationships. We also discuss the suitability of assessments of attachment quality and caregiving behaviour to inform family court decision-making. We conclude that assessments of caregiver behaviour should take center stage. Although there is dissensus among us regarding the use of assessments of attachment quality to inform child custody and child-protection decisions, such assessments are currently most suitable for targeting and directing supportive interventions. Finally, we provide directions to guide future interdisciplinary research collaboration.
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| 10. |
- Frey, B. N., et al.
(författare)
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Cooling Yb-Doped Silica Fibers and Fiber Lasers with Anti-Stokes Pumping
- 2023
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Ingår i: Proceedings of SPIE - The International Society for Optical Engineering. - : SPIE - International Society for Optical Engineering. - 9781510659797
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Konferensbidrag (refereegranskat)abstract
- Optical cooling in Yb-doped silica fibers using anti-Stokes fluorescence has become a subject of great interest in the fiber laser community. This paper provides an update on the development of silica fibers designed specifically to enhance their cooling properties. This growing list includes a new, nearly single-mode fiber with a borophosphosilicate core that produced –65 mK of cooling with only 260 mW of 1040-nm pump power. The silica compositions that have now been successfully cooled at atmospheric pressure by anti-Stokes fluorescence by our team include aluminosilicate, aluminofluorosilicate, borophosphosilicate, and aluminosilicate doped with one of three different alkali-earth nanoparticles (Ba, Sr, and Ca). By fitting the measured temperature dependence of the cooled fiber on pump power, two key parameters that control the degree of cooling are inferred, namely the critical quenching concentration and the absorptive loss due to impurities. The inferred values compiled for the fibers that cooled indicate that the extracted heat is highest when the Yb concentration is 2 wt.% or more (to maximize heat extraction), the Al concentration is ~0.8 wt.% or greater (to reduce quenching), and the absorptive loss is below approximately 15 dB/km, and ideally below 5 dB/km (to minimize heating due to pump absorption). Only two of the reported fibers, an LaF3-doped and an LuF3-doped nanoparticle fiber, did not cool, because their Yb and Al concentrations were not sufficiently high. This analysis shows that through careful composition control (especially the Al and Yb concentrations) and minimization of the OH contamination, a new generation of Yb-doped silica fibers is emerging with higher Yb concentrations, greater resistance to quenching, and lower residual loss than commercial Yb-doped fibers. They can be expected to have a significant impact not only on optically cooled devices but also on a much broader range of fiber lasers and amplifiers.
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