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Rare Heterozygous Loss-of-Function Variants in the Human GLP-1 Receptor Are Not Associated With Cardiometabolic Phenotypes
Melchiorsen, Josefine Ulrikke, Sørensen, Kimmie Vestergaard, Bork-Jensen, J., Kizilkaya, Hüsün Sheyma, Gasbjerg, Lærke Smidt, Hauser, Alexander Sebastian, Rungby, Jørgen, Sørensen, H. T., Vaag, Allan, Nielsen, J. S., Pedersen, Oluf Borbye, Linneberg, Allan René, Hartmann, Bolette, Gjesing, A. P., Holst, Jens Juul, Hansen, Torben, Rosenkilde, Mette & Grarup, Niels, 2023, In: Journal of Clinical Endocrinology and Metabolism. 108, 11, p. 2821–2833 38 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Rare and low-frequency coding variants alter human adult height
Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., Rüeger, S., Thorleifsson, G., Justice, A. E., Lamparter, D., Stirrups, K. E., Turcot, V., Young, K. L., Winkler, T. W., Esko, T., Karaderi, T. & 31 others, , 9 Feb 2017, In: Nature. 542, 7640, p. 186-190 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Rare coding variants in 35 genes associate with circulating lipid levels - A multi-ancestry analysis of 170,000 exomes
Hindy, G., Dornbos, P., Chaffin, M. D., Liu, D. J., Wang, M., Selvaraj, M. S., Zhang, D., Park, J., Aguilar-Salinas, C. A., Antonacci-Fulton, L., Ardissino, D., Arnett, D. K., Aslibekyan, S., Atzmon, G., Ballantyne, C. M., Barajas-Olmos, F., Barzilai, N., Becker, L. C., Bielak, L. F., Bis, J. C. & 33 others, , 2022, In: American Journal of Human Genetics. 109, 1, p. 81-96 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval
Ghouse, Jonas, Have, C. T., Weeke, P., Nielsen, J. B., Ahlberg, G., Balslev-Harder, M., Appel, E. V., Skaaby, T., Olesen, S., Grarup, Niels, Linneberg, Allan René, Pedersen, Oluf Borbye, Haunsø, Stig, Svendsen, Jesper Hastrup, Hansen, Torben, Kanters, Jørgen K. & Salling Olesen, M., 1 Oct 2015, In: European Heart Journal. 36, 37, p. 2523-9 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes
Bonàs-Guarch, S., Guindo-Martínez, M., Miguel-Escalada, I., Grarup, N., Sebastian, D., Rodriguez-Fos, E., Sánchez, F., Planas-Fèlix, M., Cortes-Sánchez, P., González, S., Timshel, P., Pers, T. H., Morgan, C. C., Moran, I., Atla, G., González, J. R., Puiggros, M., Martí, J., Andersson, E. A., Díaz, C. & 23 others, , 22 Jan 2018, In: Nature Communications. 9, 14 p., 321.Research output: Contribution to journal › Journal article › Research › peer-review
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Recessive Genome-wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes
O'Connor, M. J., Schroeder, P., Huerta-Chagoya, A., Cortés-Sánchez, P., Bonàs-Guarch, S., Guindo Martínez, Marta, Cole, J. B., Kaur, V., Torrents, D., Veerapen, K., Grarup, Niels, Kurki, M., Friis, Carsten, Pedersen, Oluf Borbye, Brandslund, I., Linneberg, Allan René, Hansen, Torben, Leong, A., Florez, J. C. & Mercader, J. M., 2022, In: Diabetes. 71, 3, p. 554–565Research output: Contribution to journal › Journal article › Research › peer-review
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Reduced CD300LG mRNA tissue expression, increased intramyocellular lipid content and impaired glucose metabolism in healthy male carriers of Arg82Cys in CD300LG: a novel genometabolic cross-link between CD300LG and common metabolic phenotypes
Støy, J., Kampmann, U., Mengel, A., Magnusson, N. E., Jessen, N., Grarup, Niels, Rungby, Jørgen, Stødkilde-Jørgensen, H., Brandslund, I., Christensen, C., Hansen, Torben, Pedersen, Oluf Borbye & Møller, N., 2015, In: BMJ open diabetes research & care. 3, 1, p. 1-12 12 p., e000095.Research output: Contribution to journal › Journal article › Research › peer-review
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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
Mahajan, A., Wessel, J., Willems, S. M., Zhao, W., Robertson, N. R., Chu, A. Y., Gan, W., Kitajima, H., Taliun, D., Rayner, N. W., Guo, X., Lu, Y., Li, M., Jensen, R. A., Hu, Y., Huo, S., Lohman, K. K., Zhang, W., Cook, J. P., Prins, B. P. & 32 others, , Apr 2018, In: Nature Genetics. 50, 4, p. 559-571 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Replication and meta-analysis of common variants identifies a genome-wide significant locus in migraine
Esserlind, A., Christensen, A. F., Le, H., Kirchmann, M., Hauge, A. W., Toyserkani, N. M., Hansen, Torben, Grarup, Niels, Werge, Thomas, Steinberg, S., Bettella, F., Stefansson, H. & Olesen, Jes, May 2013, In: European Journal of Neurology. 20, 5, p. 765-772 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
Li, Y., Vinckenbosch, N., Tian, G., Huerta-Sanchez, E., Jiang, T., Jiang, H., Albrechtsen, A., Andersen, G., Cao, H., Korneliussen, T. S., Grarup, N., Guo, Y., Hellman, I., Jin, X., Li, Q., Liu, J., Liu, X., Sparsø, T., Tang, M., Wu, H. & 18 others, , 2010, In: Nature Genetics. 42, 11, p. 969-72 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Natural selection affects multiple aspects of genetic variation at putatively peutral sites across the human genome
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Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets
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Estimation of allele frequency and association mapping using next-generation sequencing data
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Genome-wide association study of preserved ratio impaired spirometry (PRISm)
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Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
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GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal
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