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Träfflista för sökning "WFRF:(Ek Jesper) srt2:(2020-2022)"

Sökning: WFRF:(Ek Jesper) > (2020-2022)

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1.
  • Ek, Martin, et al. (författare)
  • Compositional analysis of oxide-embedded III-V nanostructures
  • 2022
  • Ingår i: Nanotechnology. - : IOP Publishing. - 0957-4484 .- 1361-6528. ; 33:37
  • Tidskriftsartikel (refereegranskat)abstract
    • Nanowire growth enables creation of embedded heterostructures, where one material is completely surrounded by another. Through materials-selective post-growth oxidation it is also possible to combine amorphous oxides and crystalline, e.g. III-V materials. Such oxide-embedded structures pose a challenge for compositional characterization through transmission electron microscopy since the materials will overlap in projection. Furthermore, materials electrically isolated by an embedding oxide are more sensitive to electron beam-induced alterations. Methods that can directly isolate the embedded material, preferably at reduced electron doses, will be required in this situation. Here, we analyse the performance of two such techniques-local lattice parameter measurements from high resolution micrographs and bulk plasmon energy measurements from electron energy loss spectra-by applying them to analyse InP-AlInP segments embedded in amorphous aluminium oxide. We demonstrate the complementarity of the two methods, which show an overall excellent agreement. However, in regions with residual strain, which we analyse through molecular dynamics simulations, the two techniques diverge from the true value in opposite directions.
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2.
  • Lindstrand, Anna, et al. (författare)
  • Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
  • 2022
  • Ingår i: Genetics in Medicine. - : ELSEVIER SCIENCE INC. - 1098-3600 .- 1530-0366. ; 24:11, s. 2296-2307
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines in patients with ID/NDD: genome sequencing (GS) first (N = 100), GS as a secondary test (N = 129), or chromosomal microarray (CMA) with or without FMR1 analysis (N = 421). Results: The diagnostic yield was 35% (GS -first), 26% (GS as a secondary test), and 11% (CMA/FMR1). Notably, the age of diagnosis was delayed by 1 year when GS was performed as a secondary test and the cost per diagnosed individual was 36% lower with GS first than with CMA/FMR1. Furthermore, 91% of those with a negative result after CMA/FMR1 analysis (338 individuals) have not yet been referred for additional genetic testing and remain undiagnosed. Conclusion: Our findings strongly suggest that genome analysis outperforms other testing strategies and should replace traditional CMA and FMR1 analysis as a first-line genetic test in individuals with ID/NDD. GS is a sensitive, time-and cost-effective method that results in a confirmed molecular diagnosis in 35% of all referred patients. (c) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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