- Published
A novel -192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4α Gene (HNF4A) Associates With Late-onset Diabetes
Ek, J., Hansen, S. P., Lajer, M., Nicot, C., Boesgaard, T. W., Pruhova, S., Johansen, A., Albrechtsen, Anders, Yderstraede, K., Lauenborg, J., Parrizas, M., Boj, S. F., Jørgensen, T., Borch-Johnsen, K., Damm, Peter, Ferrer, J., Lebl, J., Pedersen, Oluf Borbye & Hansen, Torben, 2006, In: Diabetes. 55, 6, p. 1869-73 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel common variant in DCST2 is associated with length in early life and height in adulthood
van der Valk, R. J. P., Kreiner-Møller, E., Kooijman, M. N., Guxens, M., Stergiakouli, E., Sääf, A., Bradfield, J. P., Geller, F., Hayes, M. G., Cousminer, D. L., Körner, A., Thiering, E., Curtin, J. A., Myhre, R., Huikari, V., Joro, R., Kerkhof, M., Warrington, N. M., Pitkänen, N., Ntalla, I. & 31 others, , 15 Feb 2015, In: Human Molecular Genetics. 24, 4, p. 1155-68 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel dopamine transporter transgenic mouse line for identification and purification of midbrain dopaminergic neurons reveals midbrain heterogeneity
Apuschkin, Mia, Stilling, S., Rahbek-Clemmensen, T., Sørensen, G., Fortin, G., Herborg, Freja, Eriksen, J., Trudeau, L., Egerod, Kristoffer Lihme, Gether, Ulrik & Rickhag, Karl Mattias, 2015, In: European Journal of Neuroscience. 42, 7, p. 2438-2454 17 p.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
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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 intronic peroxisome proliferator-activated receptor gamma enhancer in the uncoupling protein (UCP) 3 gene as a regulator of both UCP2 and -3 expression in adipocytes
Bugge, A. S., Siersbaek, M., Madsen, M. S., Göndör, A., Rougier, C. & Mandrup, S., 4 Jun 2010, In: The Journal of Biological Chemistry. 285, 23, p. 17310-7 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel luminescence-based β-arrestin recruitment assay for unmodified receptors
Pedersen, M. H., Pham, J., Mancebo, H., Inoue, A., Asher, W. B. & Javitch, J. A., 2021, In: Journal of Biological Chemistry. 296, 10 p., 100503.Research 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
- Published
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
- Published
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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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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The isoenzyme pattern of LDH does not play a physiological role; except perhaps during fast transitions in energy metabolism
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