Human Molecular Genetics, 0964-6906
Tidskrift
- 2019
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, I : Human Molecular Genetics. 28, 2, s. 332-340 9 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2018
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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 andra, , 2018 maj 15, I : Human Molecular Genetics. 27, 10, s. 1809-1818 10 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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 andra, , 2018 feb 1, I : Human Molecular Genetics. 27, 3, s. 546-558Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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 andra, , 2018, I : Human Molecular Genetics. 27, 17, s. 3113-3127Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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, I : Human Molecular Genetics. 27, 15, s. 2678-2688 11 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2017
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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 maj 1, I : Human Molecular Genetics. 26, 9, s. 1678-1693 16 s., ddx074.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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 andra, , 2017 mar 1, I : Human Molecular Genetics. 26, 5, s. 873-887Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2016
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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, I : Human Molecular Genetics. 25, 11, s. 2342-2348Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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 andra, , 2016, I : Human Molecular Genetics. 25, 18, s. 4094-4106 13 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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 andra, , 2016, I : Human Molecular Genetics. 25, 20, s. 4546-4555 10 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift