Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital

P L o S Genetics, 1553-7390

Journal

  1. 2020
  2. Published

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

    Byrjalsen, A., Hansen, T. V. O., Stoltze, U. K., Mehrjouy, M. M., Barnkob, N. M., Hjalgrim, L. L., Mathiasen, R., Lautrup, C. K., Gregersen, P. A., Hasle, H., Wehner, P. S., Tuckuviene, R., Sackett, P. W., Laspiur, A. O., Rossing, M., Marvig, R. L., Tommerup, N., Olsen, T. E., Scheie, D., Gupta, R., Gerdes, A-M., Schmiegelow, K. & Wadt, K., Dec 2020, In : P L o S Genetics. 16, 12, p. e1009231

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth

    iPSYCH-BROAD, Nov 2020, In : P L o S Genetics. 16, 11, p. e1009163

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

    Vogelezang, S., Bradfield, J. P., Ahluwalia, T. S., Curtin, J. A., Lakka, T. A., Grarup, N., Scholz, M., van der Most, P. J., Monnereau, C., Stergiakouli, E., Heiskala, A., Horikoshi, M., Fedko, I. O., Vilor-Tejedor, N., Cousminer, D. L., Standl, M., Wang, C. A., Viikari, J., Geller, F., Íñiguez, C., Pitkänen, N., Chesi, A., Bacelis, J., Yengo, L., Torrent, M., Ntalla, I., Helgeland, Ø., Selzam, S., Vonk, J. M., Zafarmand, M. H., Heude, B., Farooqi, I. S., Alyass, A., Beaumont, R. N., Have, C. T., Rzehak, P., Bilbao, J. R., Schnurr, T. M., Barroso, I., Bønnelykke, K., Chawes, B., Hansen, T., Michaelsen, K. F., Morgen, C. S., Nielsen, T. R. H., Stokholm, J., Vinding, R. K., Sørensen, T. I. A., Holm, J-C., Bisgaard, H. & Early Growth Genetics Consortium, 12 Oct 2020, In : P L o S Genetics. 16, 10, p. e1008718 e1008718.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders

    Andersen, M. K., Jørsboe, E., Skotte, L., Hanghøj, K., Sandholt, C. H., Moltke, I., Grarup, N., Kern, T., Mahendran, Y., Søborg, B., Bjerregaard, P., Larsen, C. V. L., Dahl-Petersen, I. K., Tiwari, H. K., Feenstra, B., Koch, A., Wiener, H. W., Hopkins, S. E., Pedersen, O., Melbye, M., Boyer, B. B., Jørgensen, M. E., Albrechtsen, A. & Hansen, T., 24 Jan 2020, In : P L o S Genetics. 16, 1, e1008544.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2018
  7. Published

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M., Tommerup, N., Lundberg, E. S., Tümer, Z. & Lindstrand, A., Nov 2018, In : P L o S Genetics. 14, 11, p. e1007780

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia

    Scott, W. K., Medie, F. M., Ruffin, F., Sharma-Kuinkel, B. K., Cyr, D. D., Guo, S., Dykxhoorn, D. M., Skov, R. L., Bruun, N. E., Dahl, A., Lerche, C. J., Petersen, A., Larsen, A. R., Lauridsen, T. K., Johansen, H. K., Ullum, H., Sørensen, E., Hassager, C., Bundgaard, H., Schønheyder, H. C., Torp-Pedersen, C., Østergaard, L. B., Arpi, M., Rosenvinge, F., Erikstrup, L. T., Chehri, M., Søgaard, P., Andersen, P. S. & Fowler, V. G., 5 Oct 2018, In : P L o S Genetics. 14, 10, p. e1007667

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2017
  10. Published

    Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

    Graff, M., Scott, R. A., Justice, A. E., Young, K. L., Feitosa, M. F., Barata, L., Winkler, T. W., Chu, A. Y., Mahajan, A., Hadley, D., Xue, L., Workalemahu, T., Heard-Costa, N. L., den Hoed, M., Ahluwalia, T. S., Qi, Q., Ngwa, J. S., Renström, F., Quaye, L., Eicher, J. D., Hayes, J. E., Cornelis, M., Kutalik, Z., Lim, E., Luan, J., Huffman, J. E., Zhang, W., Zhao, W., Griffin, P. J., Haller, T., Ahmad, S., Marques-Vidal, P., Bien, S., Yengo, L., Teumer, A., Smith, A. V., Kumari, M., Harder, M. N., Justesen, J. M., Kleber, M. E., Hollensted, M., Lohman, K., Rivera, N. V., Whitfield, J. B., Zhao, J. H., Aadahl, M., Færch, K., Vestergaard, H., Sørensen, T. I. A., Linneberg, A. & CHARGE Consortium, Aug 2017, In : P L o S Genetics. 13, 8, p. e1006972

    Research output: Contribution to journalComment/debateResearchpeer-review

  11. Published

    Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

    Graff, M., Scott, R. A., Justice, A. E., Young, K. L., Feitosa, M. F., Barata, L., Winkler, T. W., Chu, A. Y., Mahajan, A., Hadley, D., Xue, L., Workalemahu, T., Heard-Costa, N. L., den Hoed, M., Ahluwalia, T. S., Qi, Q., Ngwa, J. S., Renström, F., Quaye, L., Eicher, J. D., Hayes, J. E., Cornelis, M., Kutalik, Z., Lim, E., Luan, J., Huffman, J. E., Zhang, W., Zhao, W., Griffin, P. J., Haller, T., Ahmad, S., Marques-Vidal, P., Bien, S., Yengo, L., Teumer, A., Smith, A. V., Kumari, M., Harder, M. N., Justesen, J. M., Kleber, M. E., Hollensted, M., Lohman, K., Rivera, N. V., Whitfield, J. B., Zhao, J. H., Aadahl, M., Færch, K., Vestergaard, H., Sørensen, T. I. A., Linneberg, A. & CHARGE Consortium, Apr 2017, In : P L o S Genetics. 13, 4, p. e1006528

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2016
  13. Identification of Novel Genetic Determinants of Erythrocyte Membrane Fatty Acid Composition among Greenlanders

    Andersen, M. K., Jørsboe, E., Sandholt, C. H., Grarup, N., Jørgensen, M. E., Færgeman, N. J., Bjerregaard, P., Pedersen, O., Moltke, I., Hansen, T. & Albrechtsen, A., 24 Jun 2016, In : P L o S Genetics. 12, 6, p. e1006119

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    UPF2-Dependent Nonsense-Mediated mRNA Decay Pathway Is Essential for Spermatogenesis by Selectively Eliminating Longer 3'UTR Transcripts

    Bao, J., Vitting-Seerup, K., Waage, J., Tang, C., Ge, Y., Porse, B. T. & Yan, W., May 2016, In : P L o S Genetics. 12, 5, p. e1005863

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2015
  16. Published

    A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    Nyegaard, M., Rendtorff, N. D., Nielsen, M. S., Corydon, T. J., Demontis, D., Starnawska, A., Hedemand, A., Buniello, A., Niola, F., Overgaard, M. T., Leal, S. M., Ahmad, W., Wikman, F., Petersen, K., Crüger, D. G., Oostrik, J., Kremer, H., Tommerup, N., Frödin, M., Steel, K. P., Tranebjærg, L. & Børglum, A. D., Jul 2015, In : P L o S Genetics. 11, 7, p. e1005386

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2012
  18. Published

    APOBEC3G-induced hypermutation of human immunodeficiency virus type-1 is typically a discrete "all or nothing" phenomenon

    Armitage, A. E., Deforche, K., Chang, C-H., Wee, E., Kramer, B., Welch, J. J., Gerstoft, J., Fugger, L. H., McMichael, A., Rambaut, A. & Iversen, A. K. N., 2012, In : P L o S Genetics. 8, 3, p. e1002550

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes

    Min, J. L., Nicholson, G., Halgrimsdottir, I., Almstrup, K., Petri, A., Barrett, A., Travers, M., Rayner, N. W., Mägi, R., Pettersson, F. H., Broxholme, J., Neville, M. J., Wills, Q. F., Cheeseman, J., Allen, M., Holmes, C. C., Spector, T. D., Fleckner, J., McCarthy, M. I., Karpe, F., Lindgren, C. M., Zondervan, K. T. & GIANT Consortium, 2012, In : P L o S Genetics. 8, 2, p. e1002505

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    New susceptibility loci associated with kidney disease in type 1 diabetes

    Sandholm, N., Salem, R. M., McKnight, A. J., Brennan, E. P., Forsblom, C., Isakova, T., McKay, G. J., Williams, W. W., Sadlier, D. M., Mäkinen, V-P., Swan, E. J., Palmer, C., Boright, A. P., Ahlqvist, E., Deshmukh, H. A., Keller, B. J., Huang, H., Ahola, A. J., Fagerholm, E., Gordin, D., Harjutsalo, V., He, B., Heikkilä, O., Hietala, K., Kytö, J., Lahermo, P., Lehto, M., Lithovius, R., Osterholm, A-M., Parkkonen, M., Pitkäniemi, J., Rosengård-Bärlund, M., Saraheimo, M., Sarti, C., Söderlund, J., Soro-Paavonen, A., Syreeni, A., Thorn, L. M., Tikkanen, H., Tolonen, N., Tryggvason, K., Tuomilehto, J., Wadén, J., Gill, G. V., Prior, S., Guiducci, C., Mirel, D. B., Parving, H-H., Rossing, P., Tarnow, L. & DCCT/EDIC Research Group, 2012, In : P L o S Genetics. 8, 9, p. e1002921

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Population-Based Resequencing of APOA1 in 10,330 Individuals: Spectrum of Genetic Variation, Phenotype, and Comparison with Extreme Phenotype Approach

    Haase, C. L., Frikke-Schmidt, R., Nordestgaard, B. G. & Tybjærg-Hansen, A., 2012, In : P L o S Genetics. 8, 11, p. e1003063

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Use of allele-specific FAIRE to determine functional regulatory polymorphism using large-scale genotyping arrays

    Smith, F. A., Howard, P., Shah, S., Eriksson, P., Stender, S., Giambartolomei, C., Folkersen, L. W., Tybjærg-Hansen, A., Kumari, M., Palmen, J., Hingorani, A. D., Talmud, P. J. & Humphries, S. E., 2012, In : P L o S Genetics. 8, 8, p. e1002908

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2011
  24. Published

    Genome-wide association study identifies four loci associated with eruption of permanent teeth

    Geller, F., Feenstra, B., Zhang, H., Shaffer, J. R., Hansen, T., Esserlind, A-L., Boyd, H. A., Nohr, E. A., Timpson, N. J., Fatemifar, G., Paternoster, L., Evans, D. M., Weyant, R. J., Levy, S. M., Lathrop, M., Smith, G. D., Murray, J. C., Olesen, J., Werge, T. M., Marazita, M. L., Sørensen, T. I. A. & Melbye, M., 1 Sep 2011, In : P L o S Genetics. 7, 9, p. e1002275

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma

    Smedby, K. E., Foo, J. N., Skibola, C. F., Darabi, H., Conde, L., Hjalgrim, H., Kumar, V., Chang, E. T., Rothman, N., Cerhan, J. R., Brooks-Wilson, A. R., Rehnberg, E., Irwan, I. D., Ryder, L. P., Brown, P. D. N., Bracci, P. M., Agana, L., Riby, J., Cozen, W., Davis, S., Hartge, P., Morton, L. M., Severson, R. K., Wang, S. S., Slager, S. L., Fredericksen, Z. S., Novak, A. J., Kay, N. E., Habermann, T. M., Armstrong, B., Kricker, A., Milliken, S., Purdue, M. P., Vajdic, C. M., Boyle, P., Lan, Q., Zahm, S. H., Zhang, Y., Zheng, T., Leach, S., Spinelli, J. J., Smith, M. T., Chanock, S. J., Padyukov, L., Alfredsson, L., Klareskog, L., Glimelius, B., Melbye, M., Liu, E. T., Adami, H-O., Humphreys, K. & Liu, J., 2011, In : P L o S Genetics. 7, 4, p. e1001378

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2010
  27. Published

    Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

    Gaudet, M. M., Kirchhoff, T., Green, T., Vijai, J., Korn, J. M., Guiducci, C., Segrè, A. V., McGee, K., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Gauthier-Villars, M., Sobol, H., Longy, M., Frenay, M., GEMO Study Collaborators, Hogervorst, F. B. L., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., van Roozendaal, K. E. P., Piedmonte, M., Rubinstein, W., Nerenstone, S., Van Le, L., Blank, S. V., Caldés, T., de la Hoya, M., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Arason, A., Johannsson, O. T., Barkardottir, R. B., Devilee, P., Olopade, O. I., Neuhausen, S. L., Wang, X., Fredericksen, Z. S., Peterlongo, P., Manoukian, S., Barile, M., Viel, A., Overeem Hansen, T. V., Nielsen, F. C. & HEBON Study Collaborators, 1 Oct 2010, In : P L o S Genetics. 6, 10, p. e1001183

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"

    Johnatty, S. E., Beesley, J., Chen, X., Macgregor, S., Duffy, D. L., Spurdle, A. B., deFazio, A., Gava, N., Webb, P. M., Rossing, M. A., Doherty, J. A., Goodman, M. T., Lurie, G., Thompson, P. J., Wilkens, L. R., Ness, R. B., Moysich, K. B., Chang-Claude, J., Wang-Gohrke, S., Cramer, D. W., Terry, K. L., Hankinson, S. E., Tworoger, S. S., Garcia-Closas, M., Yang, H., Lissowska, J., Chanock, S. J., Pharoah, P. D., Song, H., Whitemore, A. S., Pearce, C. L., Stram, D. O., Wu, A. H., Pike, M. C., Gayther, S. A., Ramus, S. J., Menon, U., Gentry-Maharaj, A., Anton-Culver, H., Ziogas, A., Hogdall, E., Kjaer, S. K., Hogdall, C., Berchuck, A., Schildkraut, J. M., Iversen, E. S., Moorman, P. G., Phelan, C. M., Sellers, T. A., Cunningham, J. M. & Ovarian Cancer Association Consortium, 1 Jul 2010, In : P L o S Genetics. 6, 7, p. e1001016

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes

    Maeda, S., Kobayashi, M., Araki, S., Babazono, T., Freedman, B. I., Bostrom, M. A., Cooke, J. N., Toyoda, M., Umezono, T., Tarnow, L., Hansen, T., Gaede, P., Jorsal, A., Ng, D. P. K., Ikeda, M., Yanagimoto, T., Tsunoda, T., Unoki, H., Kawai, K., Imanishi, M., Suzuki, D., Shin, H. D., Park, K. S., Kashiwagi, A., Iwamoto, Y., Kaku, K., Kawamori, R., Parving, H-H., Bowden, D. W., Pedersen, O. & Nakamura, Y., 1 Jan 2010, In : P L o S Genetics. 6, 2, p. e1000842

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 130318