| 1. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 2. |
- Abazov, V. M., et al.
(författare)
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Search for first generation leptoquark pair production in the electron plus missing energy plus jets final state
- 2011
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Ingår i: Physical Review D. - 1550-7998 .- 1550-2368. ; 84:7, s. 071104-
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Tidskriftsartikel (refereegranskat)abstract
- We present a search for the pair production of first generation scalar leptoquarks (LQ) in data corresponding to an integrated luminosity of 5.4 fb(-1) collected with the D0 detector at the Fermilab Tevatron Collider in p (p) over bar collisions at root s = 1.96 TeV. In the channel LQLQ -> eqv(e)q', where q, q' are u or d quarks, no significant excess of data over background is observed, and we set a 95% C. L. lower limit of 326 GeV on the LQ mass, assuming equal probabilities of LQ decays to eq and v(e)q'.
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| 3. |
- Bowen, David E., et al.
(författare)
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Learning from the pioneering founders of the service research field
- 2023
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Ingår i: Journal of Service Management. - : Emerald Group Publishing Limited. - 1757-5818 .- 1757-5826. ; 34:4, s. 605-630
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: A small group of pioneering founders led the creation and early evolution of the service research field. Decades later, this article shares timeless service wisdom from ten of those pioneering founders. Design/methodology/approach: Bowen and Fisk specified three criteria by which to identify a pioneering founder. In total, 11 founders met the criteria (Bateson, Berry, Bitner, Brown, Chase, Edvardsson, Grönroos, Gummesson, Parasuraman, Schneider and Zeithaml) and were invited to join Bowen and Fisk – founders that also met the criteria as coauthors. Ten founders then answered a set of questions regarding their careers as service scholars and the state of the field. Findings: Insightful reflections were provided by each of the ten pioneering founders. In addition, based on their synthesis of the reflections, Bowen and Fisk developed nine wisdom themes for service researchers to consider and to possibly act upon. Originality/value: The service research field is in its fifth decade. This article offers a unique way to learn directly from the pioneering founders about the still-relevant history of the field, the founders’ lives and contributions as service scholars and the founders’ hopes and concerns for the service research field.
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| 4. |
- Doward, Lynda C., et al.
(författare)
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International Development of the Unidimensional Fatigue Impact Scale (U-FIS)
- 2010
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Ingår i: Value in Health. - : Elsevier BV. - 1098-3015. ; 13:4, s. 463-468
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The 22-item Unidimensional Fatigue Impact Scale (U-FIS) provides an index of the impact of fatigue on patients with multiple sclerosis (MS). The objective is to produce eight new language versions of the U-FIS: Canadian-English, Canadian-French, French, German, Italian, Spanish, Swedish, and US-English. Methods: The U-FIS was translated via two translation panels. Cognitive debriefing interviews conducted with patients in each country assessed face and content validity. Scaling and psychometric properties were assessed via survey data with patients in each country completing the U-FIS, Nottingham Health Profile (NHP), and demographic questions. Results: Cognitive debriefing interviews demonstrated U-FIS acceptability. Analysis of postal survey data showed all new language versions to be unidimensional. Reliability was high, with test-retest correlations and internal-consistency coefficients exceeding 0.85. Initial evidence of validity was provided by moderate to high correlations with NHP scales. The U-FIS was able to discriminate between groups based on employment status, perceived MS severity, and general health. Conclusion: The U-FIS is a practical new measure of the impact of fatigue. It was successfully adapted into eight new languages to broaden availability for researchers. Psychometric analyses indicated that the new language versions were unidimensional and reproducible with promising construct validity.
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| 5. |
- Fisk, Martin, et al.
(författare)
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Flow stress model for IN718 accounting for evolution of strengthening precipitates during thermal treatment
- 2014
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Ingår i: Computational materials science. - : Elsevier. - 0927-0256 .- 1879-0801. ; 82:1, s. 531-539
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Tidskriftsartikel (refereegranskat)abstract
- A flow stress model describing precipitate hardening in the nickel based alloy InconelÒ 718 following thermal treatment is presented. The interactions between precipitates and dislocations are included in a dislocation density based material model. Compression tests have been performed using solution annealed, fully-aged and half-aged material. Models were calibrated using data for solution annealed and fully-aged material, and validated using data from half-aged material. Agreement between experimental data and model predictions is good.
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| 6. |
- Lanza, Nina L., et al.
(författare)
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Oxidation of manganese in an ancient aquifer, Kimberley formation, Gale crater, Mars
- 2016
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 43:14, s. 7398-7407
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Tidskriftsartikel (refereegranskat)abstract
- The Curiosity rover observed high Mn abundances (>25wt % MnO) in fracture-filling materials that crosscut sandstones in the Kimberley region of Gale crater, Mars. The correlation between Mn and trace metal abundances plus the lack of correlation between Mn and elements such as S, Cl, and C, reveals that these deposits are Mn oxides rather than evaporites or other salts. On Earth, environments that concentrate Mn and deposit Mn minerals require water and highly oxidizing conditions; hence, these findings suggest that similar processes occurred on Mars. Based on the strong association between Mn-oxide deposition and evolving atmospheric dioxygen levels on Earth, the presence of these Mn phases on Mars suggests that there was more abundant molecular oxygen within the atmosphere and some groundwaters of ancient Mars than in the present day
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| 7. |
- McKenna, Stephen P., et al.
(författare)
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International Development of the Patient-Reported Outcome Indices for Multiple Sclerosis (PRIMUS)
- 2010
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Ingår i: Value in Health. - : Elsevier BV. - 1098-3015. ; 13:8, s. 946-951
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Tidskriftsartikel (refereegranskat)abstract
- Background: The Patient-Reported Indices for Multiple Sclerosis (PRIMUS) comprises a suite of three scales for assessing symptoms, activity limitations, and quality of life in multiple sclerosis (MS). It was developed in the UK and has been shown to have excellent psychometric properties. This study describes the adaptation of eight language versions for Canadian English, Canadian French, French, German, Italian, Spanish, Swedish, and US English. Methods: The PRIMUS was translated using the dual-panel process. Cognitive debriefing interviews conducted with MS patients assessed face and content validity. Psychometric and scaling properties were assessed via a two-administration postal survey conducted in each country involving the PRIMUS, the Nottingham Health Profile (NHP), the Unidimensional Fatigue Impact Scale (U-FIS), and demographic questions. Results: Cognitive debriefing interviews demonstrated the acceptability of the new language versions. Analysis of survey data showed that the new language versions of the three PRIMUS scales were unidimensional (as indicated by fit to the Rasch model) and that they had good internal consistency and reproducibility. PRIMUS scale scores correlated as expected with those on the NHP and the U-FIS. The scales in all countries were able to discriminate between groups of patients on the basis of their self-reported MS severity, general health, and employment status. Conclusions: The PRIMUS was successfully adapted into eight new languages. Most of the tests showed the PRIMUS to have good unidimensionality and to have good internal consistency, reproducibility, and construct validity. The measure is now available for use in clinical studies and trials involving these countries and the UK. Further work is required to assess the measure's responsiveness.
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| 8. |
- Rusz, Jan, et al.
(författare)
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Probing the electronic structure of pure and doped CeMIn5 (M=Co,Rh,Ir) crystals with nuclear quadrupolar resonance
- 2008
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 77:24, s. 245124-
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Tidskriftsartikel (refereegranskat)abstract
- We report calculations of the electric-field gradients (EFGs) in pure and doped CeMIn5 (M=Co, Rh, and Ir) compounds and compare with experiment. The degree to which the Ce 4f electron is localized is treated within various models: the local-density approximation, generalized gradient approximation (GGA), GGA+U, and 4f-core approaches. We find that there is a correlation between the observed EFG and whether the 4f electron participates in the band formation or not. We also find that the EFG evolves linearly with Sn doping in CeRhIn5, suggesting the electronic structure is modified by doping. In contrast, the observed EFG in CeCoIn5 doped with Cd changes little with doping. These results indicate that nuclear quadrupolar resonance is a sensitive probe of electronic structure.
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| 9. |
- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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