Novo Nordisk Foundation Center for Basic Metabolic Research

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  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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, Hilliard, A. T., Wang, Z., Xue, C., Thorleifsson, G., Helgadottir, A., Gudbjartsson, D. F., Holm, H., Olafsson, I., Hwang, M. Y., Han, S., Zhao, J. H., Aadahl, Mette, Bork-Jensen, J., Møllehave, L. T., Liu, J., Wang, J., drb459, drb459, Jackson, R. D., Kovacs, P., Pedersen, Oluf Borbye, Hansen, Torben, Lind, L., Loos, Ruth, Christensen, K., Linneberg, Allan René, Grarup, N., Dantoft, T. M., Karpe, F., Wei, W. Q., Sun, Y. V., Million Veterans Program, M. V. P. & Global Lipids Genetics Consortium, G. L. G. C., 2022, In: American Journal of Human Genetics. 109, 8, p. 1366-1387 22 p.

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

  8. Published

    A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

    Sung, Y. J., de Las Fuentes, L., Winkler, T. W., Chasman, D. I., Bentley, A. R., Kraja, A. T., Ntalla, I., Warren, H. R., Guo, X., Schwander, K., Manning, A. K., Brown, M. R., Aschard, H., Feitosa, M. F., Franceschini, N., Lu, Y., Cheng, C-Y., Sim, X., Vojinovic, D., Marten, J. & 263 others, Musani, S. K., Kilpelainen, T. O., Richard, M. A., Aslibekyan, S., Bartz, T. M., Dorajoo, R., Li, C., Liu, Y., Rankinen, T., Smith, A. V., Tajuddin, S. M., Tayo, B. O., Zhao, W., Zhou, Y., Matoba, N., Sofer, T., Alver, M., Amini, M., Boissel, M., Chai, J. F., Chen, X., Divers, J., Gandin, I., Gao, C., Giulianini, F., Goel, A., Harris, S. E., Hartwig, F. P., He, M., Horimoto, A. R. V. R., Hsu, F., Jackson, A. U., Kammerer, C. M., Kasturiratne, A., Komulainen, P., Kuehnel, B., Leander, K., Lee, W., Lin, K., Luan, J., Lyytikainen, L., McKenzie, C. A., Nelson, C. P., Noordam, R., Scott, R. A., Sheu, W. H. H., Stancakova, A., Takeuchi, F., van Der Most, P. J., V Varga, Tibor, Waken, R. J., Wang, H., Wang, Y., Ware, E. B., Weiss, S., Wen, W., Yanek, L. R., Zhang, W., Zhao, J. H., Afaq, S., Alfred, T., Amin, N., Arking, D. E., Aung, T., Barr, R. G., Bielak, L. F., Boerwinkle, E., Bottinger, E. P., Braund, P. S., Brody, J. A., Broeckel, U., Cade, B., Campbell, A., Canouil, M., Chakravarti, A., Cocca, M., Collins, F. S., Connell, J. M., de Mutsert, R., de Silva, H. J., Doerr, M., Duan, Q., Eaton, C. B., Ehret, G., Evangelou, E., Faul, J. D., Forouhi, N. G., Franco, O. H., Friedlander, Y., Gao, H., Gigante, B., Gu, C. C., Gupta, P., Hagenaars, S. P., Harris, T. B., He, J., Heikkinen, S., Heng, C., Hofman, A., Howard, B. V., Hunt, S. C., Irvin, M. R., Jia, Y., Katsuya, T., Kaufman, J., Kerrison, N. D., Khor, C. C., Koh, W., Koistinen, H. A., Kooperberg, C. B., Krieger, J. E., Kubo, M., Kutalik, Z., Kuusisto, J., Lakka, T. A., Langefeld, C. D., Langenberg, C., Launer, L. J., Lee, J. H., Lehne, B., Levy, D., Lewis, C. E., Li, Y., Lim, S. H., Liu, C., Liu, J., Liu, J., Liu, Y., Loh, M., Lohman, K. K., Louie, T., Magi, R., Matsuda, K., Meitinger, T., Metspalu, A., Milani, L., Momozawa, Y., Mosley, T. H. ,. J., Nalls, M. A., Nasri, U., O'Connell, J. R., Ogunniyi, A., Palmas, W. R., Palmer, N. D., Pankow, J. S., Pedersen, N. L., Peters, A., Peyser, P. A., Polasek, O., Porteous, D., Raitakari, O. T., Renstrom, F., Rice, T. K., Ridker, P. M., Robino, A., Robinson, J. G., Rose, L. M., Rudan, I., Sabanayagam, C., Salako, B. L., Sandow, K., Schmidt, C. O., Schreiner, P. J., Scott, W. R., Sever, P., Sims, M., Sitlani, C. M., Smith, B. H., Smith, J. A., Snieder, H., Starr, J. M., Strauch, K., Tang, H., Taylor, K. D., Teo, Y. Y., Tham, Y. C., Uitterlinden, A. G., Waldenberger, M., Wang, L., Wang, Y. X., Wei, W. B., Wilson, G., Wojczynski, M. K., Xiang, Y., Yao, J., Yu, C., Yuan, J., Zonderman, A. B., Becker, D. M., Boehnke, M., Bowden, D. W., Chambers, J. C., Chen, Y. I., Weir, D. R., de Faire, U., Deary, I. J., Esko, T., Farrall, M., Forrester, T., Freedman, B. I., Froguel, P., Gasparini, P., Gieger, C., Horta, B. L., Hung, Y., Jonas, J. B., Kato, N., Kooner, J. S., Laakso, M., Lehtimaki, T., Liang, K., Magnusson, P. K. E., Oldehinkel, A. J., Pereira, A. C., Perls, T., Rauramaa, R., Redline, S., Rettig, R., Samani, N. J., Scott, J., Shu, X., van Der Harst, P., Wagenknecht, L. E., Wareham, N. J., Watkins, H., Wickremasinghe, A. R., Wu, T., Kamatani, Y., Laurie, C. C., Bouchard, C., Cooper, R. S., Evans, M. K., Gudnason, V., Hixson, J., Kardia, S. L. R., Kritchevsky, S. B., Psaty, B. M., van Dam, R. M., Arnett, D. K., Mook-Kanamori, D. O., Fornage, M., Fox, E. R., Hayward, C., van Duijn, C. M., Tai, E. S., Wong, T. Y., Loos, Ruth, Reiner, A. P., Rotimi, C. N., Bierut, L. J., Zhu, X., Cupples, L. A., Province, M. A., Rotter, J. I., Franks, P. W., Rice, K., Elliott, P., Caulfield, M. J., Gauderman, W. J., Munroe, P. B., Rao, D. C., Morrison, A. C. & Kilpeläinen, Tuomas O., 1 Aug 2019, In: Human Molecular Genetics. 28, 15, p. 2615-2633

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

  9. Published

    A molecular census of arcuate hypothalamus and median eminence cell types

    Campbell, J. N., Macosko, E. Z., Fenselau, H., Pers, Tune H, Lyubetskaya, A., Tenen, D., Goldman, M., Verstegen, A. M. J., Resch, J. M., McCarroll, S. A., Rosen, E. D., Lowell, B. B. & Tsai, L. T., Mar 2017, In: Nature Neuroscience. 20, 3, p. 484-496 13 p.

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

  10. Published

    A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

    Chen, S., Lau, T. K., Zhang, C., Xu, C., Xu, Z., Hu, P., Xu, J., Huang, H., Pan, L., Jiang, F., Chen, F., Pan, X., Xie, W., Liu, P., Li, X., Zhang, L., Li, S., Li, Y., Xu, X., Wang, W. & 3 others, Wang, J., Jiang, H. & Zhang, X., 2013, In: Prenatal Diagnosis. 33, 6, p. 584-590 6 p.

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

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