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Träfflista för sökning "WFRF:(Posthuma L) srt2:(2015-2019)"

Search: WFRF:(Posthuma L) > (2015-2019)

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1.	Lee, PH, et al. (author) Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders 2019 In: Cell. - : Elsevier BV. - 1097-4172 .- 0092-8674. ; 179:7, s. 1469- Journal article (peer-reviewed)
2.	Marouli, Eirini, et al. (author) Rare and low-frequency coding variants alter human adult height 2017 In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190 Journal article (peer-reviewed)abstract Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
3.	O'Dushlaine, C, et al. (author) Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways 2015 In: Nature neuroscience. - : Springer Science and Business Media LLC. - 1546-1726 .- 1097-6256. ; 18:2, s. 199-209 Journal article (peer-reviewed)
4.	Clark, DW, et al. (author) Associations of autozygosity with a broad range of human phenotypes 2019 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957- Journal article (peer-reviewed)abstract In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
5.	Ruderfer, DM, et al. (author) Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes 2018 In: Cell. - : Elsevier BV. - 1097-4172 .- 0092-8674. ; 173:7, s. 1705- Journal article (peer-reviewed)
6.	Harold, D, et al. (author) Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia 2019 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. - : Wiley. - 1552-485X. ; 180:3, s. 223-231 Journal article (peer-reviewed)
7.	Huckins, LM, et al. (author) Gene expression imputation across multiple brain regions provides insights into schizophrenia risk 2019 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 51:4, s. 659- Journal article (peer-reviewed)
8.	Linner, RK, et al. (author) Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences 2019 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 51:2, s. 245- Journal article (peer-reviewed)
9.	Marshall, CR, et al. (author) Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects 2017 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:1, s. 27-35 Journal article (peer-reviewed)
10.	Musliner, KL, et al. (author) Association of Polygenic Liabilities for Major Depression, Bipolar Disorder, and Schizophrenia With Risk for Depression in the Danish Population 2019 In: JAMA psychiatry. - Chicago : American Medical Association (AMA). - 2168-6238 .- 2168-622X. ; 76:5, s. 516-525 Journal article (peer-reviewed)

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Result 1-10 of 46

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Type of publication: journal article (41); conference paper (3); research review (2)

Type of content: peer-reviewed (43); other academic/artistic (3)

Author/Editor: Posthuma, D (32); Ripke, S (22); Esko, T (19); Metspalu, A (19); Stefansson, K (19); Werge, T (18); show more...; Martin, NG (18); Medland, SE (18); Knowles, JA (18); Gill, M. (18); Maier, W (18); Milani, L (18); Steinberg, S (17); Sullivan, PF (17); Tiemeier, H (17); Craddock, N (17); Mattheisen, M (17); Montgomery, GW (17); Muller-Myhsok, B (17); Smoller, JW (17); Wray, NR (17); Degenhardt, F (17); Schulze, TG (17); Herms, S. (17); Strohmaier, J (17); Frank, J (17); Witt, SH (17); O'Donovan, MC (17); Stefansson, H. (17); Breen, G (16); Cichon, S (16); McIntosh, AM (16); Nothen, MM (16); Rietschel, M (16); Levinson, DF (16); Kendler, KS (16); Owen, MJ (16); Mortensen, PB (15); Hoffmann, P (15); Agerbo, E (15); Mors, O (15); Hougaard, DM (15); Shi, JX (15); Grove, J (15); Forstner, AJ (15); Visscher, PM (15); Blackwood, DHR (15); Escott-Price, V (15); Gordon, SD (15); Sigurdsson, E (15); show less...

University: Karolinska Institutet (32); University of Gothenburg (16); Umeå University (8); Uppsala University (4); Stockholm School of Economics (4); IVL Swedish Environmental Research Institute (4); show more...; Stockholm University (3); Jönköping University (2); Lund University (2); Örebro University (1); show less...

Language: English (46)

Research subject (UKÄ/SCB): Medical and Health Sciences (23); Natural sciences (12); Social Sciences (2)

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