Human Molecular Genetics, 0964-6906

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  1. 2019
  2. Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis

    Fadista, J., Skotte, L., Geller, F., Bybjerg-Grauholm, J., Gørtz, S., Romitti, P. A., Caggana, M., Kay, D. M., Matsson, H., Boyd, H. A., Hougaard, D. M., Nordenskjöld, A., Mills, J. L., Melbye, M. & Feenstra, B., 2019, In : Human Molecular Genetics. 28, 2, p. 332-340 9 p.

    Research output: Contribution to journalArticle

  3. 2018
  4. A genome-wide association study of IgM antibody against phosphorylcholine: Shared genetics and phenotypic relationship to chronic lymphocytic leukemia

    Chen, X., Gustafsson, S., Whitington, T., Borné, Y., Lorentzen, E., Sun, J., Almgren, P., Su, J., Karlsson, R., Song, J., Lu, Y., Zhan, Y., Hägg, S., Svensson, P., Smedby, K. E., Slager, S. L., Ingelsson, E., Lindgren, C. M., Morris, A. P., Melander, O. & 9 othersKarlsson, T., de Faire, U., Caidahl, K., Gunnar Engström, Lind, L., Karlsson, M. C. I., Pedersen, N. L., Frostegård, J. & Magnusson, P. K. E., 2018 May 15, In : Human Molecular Genetics. 27, 10, p. 1809-1818 10 p.

    Research output: Contribution to journalArticle

  5. Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin

    Tönjes, A., Scholz, M., Krüger, J., Krause, K., Schleinitz, D., Kirsten, H., Gebhardt, C., Marzi, C., Grallert, H., Ladenvall, C., Heyne, H., Laurila, E., Kriebel, J., Meisinger, C., Rathmann, W., Gieger, C., Groop, L., Prokopenko, I., Isomaa, B., Beutner, F. & 9 othersKratzsch, J., Fischer-Rosinsky, A., Pfeiffer, A., Krohn, K., Spranger, J., Thiery, J., Blüher, M., Stumvoll, M. & Kovacs, P., 2018 Feb 1, In : Human Molecular Genetics. 27, 3, p. 546-558

    Research output: Contribution to journalArticle

  6. Consortium-based genome-wide meta-analysis for childhood dental caries traits

    Haworth, S., Shungin, D., Van Der Tas, J. T., Vucic, S., Medina-Gomez, C., Yakimov, V., Feenstra, B., Shaffer, J. R., Lee, M. K., Standl, M., Thiering, E., Wang, C., Bønnelykke, K., Waage, J., Jessen, L. E., Nørrisgaard, P. E., Joro, R., Seppälä, I., Raitakari, O., Dudding, T. & 23 othersGrgic, O., Ongkosuwito, E., Vierola, A., Eloranta, A. M., West, N. X., Thomas, S. J., McNeil, D. W., Levy, S. M., Slayton, R., Nohr, E. A., Lehtimäki, T., Lakka, T., Bisgaard, H., Pennell, C., Kühnisch, J., Marazita, M. L., Melbye, M., Geller, F., Rivadeneira, F., Wolvius, E. B., Paul W. Franks, Johansson, I. & Timpson, N. J., 2018, In : Human Molecular Genetics. 27, 17, p. 3113-3127

    Research output: Contribution to journalArticle

  7. Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration

    Mariann Kremlitzka, Geerlings, M. J., De Jong, S., Bakker, B., Sara C. Nilsson, Fauser, S., Hoyng, C. B., De Jong, E. K., Den Hollander, A. I. & Anna M. Blom, 2018, In : Human Molecular Genetics. 27, 15, p. 2678-2688 11 p.

    Research output: Contribution to journalArticle

  8. 2017
  9. Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

    Segal-Salto, M., Hansson, K., Sapir, T., Kaplan, A., Levy, T., Schweizer, M., Frotscher, M., Peter James & Reiner, O., 2017 May 1, In : Human Molecular Genetics. 26, 9, p. 1678-1693 16 p., ddx074.

    Research output: Contribution to journalArticle

  10. Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

    Clayton, E. L., Mancuso, R., Tolstrup Nielsen, T., Mizielinska, S., Holmes, H., Powell, N., Norona, F., Overgaard Larsen, J., Milioto, C., Wilson, K. M., Lythgoe, M. F., Ourselin, S., Nielsen, J. E., Johannsen, P., Holm, I., Collinge, J., Oliver, P. L., Gomez-Nicola, D., Isaacs, A. M., Englund, E. & 1 othersFReJA, 2017 Mar 1, In : Human Molecular Genetics. 26, 5, p. 873-887

    Research output: Contribution to journalArticle

  11. 2016
  12. Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers

    Yan Borné, Martin Söderholm, Barregard, L., Fagerberg, B., Margaretha Persson, Olle Melander, Thévenod, F., Bo Hedblad & Gunnar Engström, 2016 Jun 22, In : Human Molecular Genetics. 25, 11, p. 2342-2348

    Research output: Contribution to journalArticle

  13. Analysis with the exome array identifies multiple new independent variants in lipid loci

    Kanoni, S., Masca, N. G. D., Stirrups, K. E., Varga, T. V., Warren, H. R., Scott, R. A., Southam, L., Zhang, W., Yaghootkar, H., Müller-Nurasyid, M., Alves, A. C., Strawbridge, R. J., Lataniotis, L., Hashim, N. A., Besse, C., Boland, A., Braund, P. S., Connell, J. M., Dominiczak, A., Farmaki, A-E. & 41 othersFranks, S., Grallert, H., Jansson, J-H., Karaleftheri, M., Keinänen-Kiukaanniemi, S., Matchan, A., Pasko, D., Peters, A., Poulter, N., Rayner, N. W., Frida Renström, Rolandsson, O., Sabater-Lleal, M., Sennblad, B., Sever, P., Shields, D. C., Silveira, A., Stanton, A. V., Strauch, K., Tomaszewski, M., Tsafantakis, E., Waldenberger, M., Blakemore, A. I. F., Dedoussis, G., Escher, S. A., Kooner, J. S., McCarthy, M. I., Palmer, C. N. A., Hamsten, A., Caulfield, M. J., Frayling, T. M., Tobin, M. D., Jarvelin, M. R., Zeggini, E., Gieger, C., Chambers, J. C., Wareham, N. J., Munroe, P. B., Paul W. Franks, Samani, N. J. & Deloukas, P., 2016, In : Human Molecular Genetics. 25, 18, p. 4094-4106 13 p.

    Research output: Contribution to journalArticle

  14. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

    Bedoni, N., Haer-Wigman, L., Vaclavik, V., Tran, V. H., Farinelli, P., Balzano, S., Royer-Bertrand, B., El-Asrag, M. E., Bonny, O., Ikonomidis, C., Litzistorf, Y., Nikopoulos, K., Yioti, G. G., Stefaniotou, M. I., McKibbin, M., Booth, A. P., Ellingford, J. M., Black, G. C. M., Toomes, C., Inglehearn, C. F. & 11 othersHoyng, C. B., Bax, N., Klaver, C. C. W., Thiadens, A. A., Murisier, F., Schorderet, D. F., Ali, M., Cremers, F. P. M., Sten Andréasson, Munier, F. L. & Rivolta, C., 2016, In : Human Molecular Genetics. 25, 20, p. 4546-4555 10 p.

    Research output: Contribution to journalArticle

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