Novo Nordisk Foundation Center for Basic Metabolic Research

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  1. Published

    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. 203-212

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. 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

  3. Published

    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

  4. Published

    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

  5. Published

    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

  6. Published

    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

  7. Published

    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, Horikoshi, M., Veijola, R., Freathy, R. M., Teo, Y., Barton, S. J., Evans, D. M., Kemp, J. P., St Pourcain, B., Ring, S. M., Davey Smith, G., Bergström, A., Kull, I., Hakonarson, H., Mentch, F. D., Bisgaard, H., Chawes, Bo Lund Krogsgaard, Stokholm, Jakob, Waage, J., Eriksen, P., Sevelsted, A., Melbye, M., van Duijn, C. M., Medina-Gomez, C., Hofman, A., de Jongste, J. C., Taal, H. R., Uitterlinden, A. G., Armstrong, L. L., Pers, Tune H, Bønnelykke, Klaus & Early Genetics and Lifecourse Epidemiology (EAGLE) Consortium, E. G. A. L. E. (. C., 15 Feb 2015, In: Human Molecular Genetics. 24, 4, p. 1155-68 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. 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

  9. Published

    A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

    van der Lee, S. J., Conway, O. J., Jansen, I., Carrasquillo, M. M., Kleineidam, L., van den Akker, E., Hernandez, I., van Eijk, K. R., Stringa, N., Chen, J. A., Zettergren, A., Andlauer, T. F. M., Diez-Fairen, M., Simon-Sanchez, J., Lleo, A., Zetterberg, H., Nygaard, M., Blauwendraat, C., Savage, J. E., Mengel-From, J. & 81 others, Moreno-Grau, S., Wagner, M., Fortea, J., Keogh, M. J., Blennow, K., Skoog, I., Friese, M. A., Pletnikova, O., Zulaica, M., Lage, C., de Rojas, I., Riedel-Heller, S., Illan-Gala, I., Wei, W., Jeune, B., Orellana, A., Bergh, F. T., Wang, X., Hulsman, M., Beker, N., Tesi, N., Morris, C. M., Indakoetxea, B., Collij, L. E., Scherer, M., Morenas-Rodriguez, E., Ironside, J. W., van Berckel, B. N. M., Alcolea, D., Wiendl, H., Strickland, S. L., Pastor, P., Rodriguez Rodriguez, E., Boeve, B. F., Petersen, R. C., Ferman, T. J., van Gerpen, J. A., Reinders, M. J. T., Uitti, R. J., Tarraga, L., Maier, W., Dols-Icardo, O., Kawalia, A., Dalmasso, M. C., Boada, M., Zettl, U. K., van Schoor, N. M., Beekman, M., Allen, M., Masliah, E., Lopez de Munain, A., Pantelyat, A., Wszolek, Z. K., Ross, O. A., Dickson, D. W., Graff-Radford, N. R., Knopman, D., Rademakers, R., Lemstra, A. W., Pijnenburg, Y. A. L., Scheltens, P., Gasser, T., Chinnery, P. F., Hemmer, B., Huisman, M. A., Troncoso, J., Moreno, F., Nohr, E. A., Sørensen, Thorkild I.A., Heutink, P., Sanchez-Juan, P., Posthuma, D., Clarimon, J., Christensen, K., Ertekin-Taner, N., Scholz, S. W., Ramirez, A., Ruiz, A., Slagboom, E., van der Flier, W. M. & Holstege, H., 2019, In: Acta Neuropathologica. 138, 2, p. 237-250 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. 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

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