- Published
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
Ried, J. S., Jeff M, J., Chu, A. Y., Bragg-Gresham, J. L., van Dongen, J., Huffman, J. E., Ahluwalia, T. V. S., Cadby, G., Eklund, N., Eriksson, J., Esko, T., Feitosa, M. F., Goel, A., Gorski, M., Hayward, C., Heard-Costa, N. L., Jackson, A. U., Jokinen, E., Kanoni, S., Kristiansson, K. & 256 others, , 23 Nov 2016, In: Nature Communications. 7, 11 p., 13357.Research output: Contribution to journal › Journal article › Research › peer-review
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A possible association between a dysfunctional skin barrier (filaggrin null-mutation status) and diabetes: a cross-sectional study
Thyssen, Jacob Pontoppidan, Linneberg, Allan René, Carlsen, B. C., Johansen, Jeanne Duus, Engkilde, K., Hansen, Torben, Pociot, Flemming, Pedersen, Oluf Borbye, Meldgaard, M., Szecsi, P. B., Stender, Steen & Menné, T., 1 Jan 2011, In: BMJ Open. 1, 1, p. e000062 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland
Thuesen, A. C. B., Stæger, F. F., Kaci, A., Solheim, M. H., Aukrust, I., Jørsboe, E., Santander, C. G., Andersen, M. K., Li, Z., Gilly, A., Stinson, S. E., Gjesing, A. P., Bjerregaard, P., Pedersen, M. L., Larsen, C. V. L., Grarup, N., Jørgensen, M. E., Zeggini, E., Bjørkhaug, L., Njølstad, P. R. & 3 others, , 2023, In: The Lancet Regional Health - Europe. 24, 12 p., 100529.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria
Ahluwalia, T. S., Schulz, C-A., Waage, J., Skaaby, T., Sandholm, N., van Zuydam, N., Charmet, R., Bork-Jensen, J., Almgren, P., Thuesen, B. H., Bedin, M., Brandslund, I., Christensen, C. K., Linneberg, A., Ahlqvist, E., Groop, P-H., Hadjadj, S., Tregouet, D-A., Jorgensen, M. E., Grarup, N. & 9 others, , 2019, In: Diabetologia. 62, 2, p. 292-305Research output: Contribution to journal › Journal article › Research › peer-review
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A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder
Ullah, A., Krishin, J., Haider, N., Aurangzeb, B., Abdullah, Suleman, Sufyan, Ahmad, W., Hansen, Torben & Basit, S., 2022, In: Neurogenetics. 23, p. 203-212Research output: Contribution to journal › Journal article › Research › peer-review
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A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes
Bakar, A., Ullah, A., Bibi, N., Khan, H., Rahman, A. U., Ahmad, W. & Khan, B., 2022, In: European Journal of Medical Genetics. 65, 10, 104599.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
Hajra, B., Abdullah, Bibi, N., Syed, F., Ullah, A., Ahmad, W. & Umm-e-Kalsoom, 2023, In: Anais Brasileiros de Dermatologia. 98, 5, p. 580-586 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A mutation map for human glycoside hydrolase genes
Hansen, Lars, Husein, D. M., Gericke, B., Hansen, Torben, Pedersen, Oluf Borbye, Tambe, M. A., Freeze, H. H., Naim, H. Y., Henrissat, B., Wandall, Hans H., Clausen, Henrik & Bennett, Eric Paul, 2020, In: Glycobiology. 30, 8, p. 500-515 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
Ramdas, S., Judd, J., Graham, S. E., Kanoni, S., Wang, Y., Surakka, I., Wenz, B., Clarke, S. L., Chesi, A., Wells, A., Bhatti, K. F., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Zajac, G. J. M., Wu, K. H. H., Ntalla, I., Hui, Q., Klarin, D. & 32 others, , 2022, In: American Journal of Human Genetics. 109, 8, p. 1366-1387 22 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A metagenome-wide association study of gut microbiota in type 2 diabetes
Qin, J., Li, Y., Cai, Z., Li, S., Zhu, J., Zhang, F., Liang, S., Zhang, W., Guan, Y., Shen, D., Peng, Y., Zhang, D., Jie, Z., Wu, W., Qin, Y., Xue, W., Li, J., Han, L., Lu, D., Wu, P. & 36 others, , 2012, In: Nature. 490, 7418, p. 55-60 6 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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