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Numrering	Referens	Omslagsbild	Hitta
61.	Helbig, KL, et al. (författare) De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias 2019 Ingår i: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:3, s. 562-562 Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
62.	Lagou, V, et al. (författare) Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability 2021 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 995- Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21276-3
63.	Manning, AK, et al. (författare) A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance 2012 Ingår i: Nature genetics. - New York : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:6, s. 659-U81 Tidskriftsartikel (refereegranskat)
64.	Scott, Robert A., et al. (författare) Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways 2012 Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:9, s. 991-1005 Tidskriftsartikel (refereegranskat)abstract Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes risk (q < 0.05). Loci influencing fasting insulin concentration showed association with lipid levels and fat distribution, suggesting impact on insulin resistance. Gene-based analyses identified further biologically plausible loci, suggesting that additional loci beyond those reaching genome-wide significance are likely to represent real associations. This conclusion is supported by an excess of directionally consistent and nominally significant signals between discovery and follow-up studies. Functional analysis of these newly discovered loci will further improve our understanding of glycemic control.
65.	Zhang, B, et al. (författare) Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization 2015 Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 107:11 Tidskriftsartikel (refereegranskat)
66.	Berndt, Sonja I., et al. (författare) Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture 2013 Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69 Tidskriftsartikel (refereegranskat)abstract Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
67.	Conti, David, V, et al. (författare) Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction 2021 Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 53:1, s. 65-75 Tidskriftsartikel (refereegranskat)abstract Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction. A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.
68.	Day, FR, et al. (författare) Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair 2015 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:11, s. 1294- Tidskriftsartikel (refereegranskat)
69.	Day, FR, et al. (författare) Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair EDITORIAL COMMENT 2015 Ingår i: OBSTETRICAL & GYNECOLOGICAL SURVEY. - : Ovid Technologies (Wolters Kluwer Health). - 0029-7828. ; 70:12, s. 758-762 Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
70.	Kote-Jarai, Z, et al. (författare) Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression 2013 Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 22:12, s. 2520-2528 Tidskriftsartikel (refereegranskat)

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