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1.	Glasbey, JC, et al. (author) 2021 swepub:Mat__t
2.	de Rojas, I., et al. (author) Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores 2021 In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1 Journal article (peer-reviewed)abstract Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
3.	Klionsky, Daniel J, et al. (author) Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 2016 In: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 12:1, s. 1-222 Journal article (peer-reviewed)
4.	Dorison, CA, et al. (author) In COVID-19 Health Messaging, Loss Framing Increases Anxiety with Little-to-No Concomitant Benefits: Experimental Evidence from 84 Countries 2022 In: Affective science. - : Springer Science and Business Media LLC. - 2662-205X .- 2662-2041. ; 3:3, s. 577-602 Journal article (peer-reviewed)
5.	Wang, K, et al. (author) Author Correction: A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic 2022 In: Nature human behaviour. - : Springer Science and Business Media LLC. - 2397-3374. ; 6:9, s. 1318-1319 Journal article (other academic/artistic)
6.	Wang, K, et al. (author) A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic 2021 In: Nature human behaviour. - : Springer Science and Business Media LLC. - 2397-3374. ; 5:8, s. 1089- Journal article (peer-reviewed)
7.	Chappell, E, et al. (author) Malignancies among children and young people with HIV in Western and Eastern Europe and Thailand 2021 In: AIDS (London, England). - 1473-5571. ; 35:12, s. 1973-1985 Journal article (peer-reviewed)
8.	Crichton, S, et al. (author) Height and timing of growth spurt during puberty in young people living with vertically acquired HIV in Europe and Thailand 2019 In: AIDS (London, England). - 1473-5571. ; 33:12, s. 1897-1910 Journal article (peer-reviewed)
9.	Thompson, B.A., et al. (author) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database 2014 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115 Journal article (peer-reviewed)abstract The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
10.	Bellenguez, C, et al. (author) New insights into the genetic etiology of Alzheimer's disease and related dementias 2022 In: Nature genetics. - : NATURE PORTFOLIO. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436 Journal article (peer-reviewed)

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Result 1-10 of 109

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Type of publication: journal article (100); conference paper (7); research review (1)

Type of content: peer-reviewed (96); other academic/artistic (12)

Author/Editor: Capella, G (15); Moller, P. (14); Bernstein, I (14); Holinski-Feder, E (14); Evans, DG (13); Hovig, E (13); show more...; Lalloo, F (13); Green, K (13); MECKLIN, JP (13); Macrae, F (13); Plazzer, JP (13); Hill, J. (12); Lindblom, A (12); Mints, M (12); Sunde, L (12); Engel, C. (12); Burn, J (12); Bertario, L (12); Renkonen-Sinisalo, L (12); Sampson, JR (12); Pineda, Daniela (11); Nielsen, M. (11); Navarro, M (11); Nakken, S (11); Moslein, G (11); Pylvanainen, K (11); Aretz, S (11); Morak, M (11); Crosbie, EJ (10); Hopper, JL (9); Broberg, Karin (9); Jenkins, MA (9); Vangala, D (9); Schmiegel, W (9); Thomas, H. (9); Seppala, TT (9); ten Broeke, SW (9); Gluck, N (9); Heinimann, K (9); Le Marchand, L (8); Rosner, G. (8); Gallinger, S (8); Kariv, R (8); Vasen, H (8); Newcomb, PA (8); Win, AK (8); Tibiletti, MG (8); Dominguez-Valentin, ... (8); Cavestro, GM (8); Huneburg, R (8); show less...

University: Karolinska Institutet (70); University of Gothenburg (18); Lund University (17); Uppsala University (11); Chalmers University of Technology (9); Stockholm University (8); show more...; Umeå University (5); Linköping University (4); Jönköping University (4); Örebro University (3); Swedish University of Agricultural Sciences (3); Royal Institute of Technology (1); Luleå University of Technology (1); Södertörn University (1); Linnaeus University (1); show less...

Language: English (109)

Research subject (UKÄ/SCB): Medical and Health Sciences (42); Natural sciences (20); Engineering and Technology (3); Social Sciences (3)

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