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The Capital Region of Denmark - a part of Copenhagen University Hospital

Human Molecular Genetics, ‎0964-6906

Journal

  1. 2021
  2. E-pub ahead of print

    Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

    Zheng, W-Q., Pedersen, S. V., Thompson, K., Bellacchio, E., French, C. E., Munro, B., Pearson, T. S., Vogt, J., Diodato, D., Diemer, T., Ernst, A., Horvath, R., Chitre, M., Ek, J., Wibrand, F., Grange, D. K., Raymond, L., Zhou, X-L., Taylor, R. W. & Ostergaard, E., 11 Sep 2021, (E-pub ahead of print) In: Human Molecular Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci

    Ahluwalia, T. S., Prins, B. P., Abdollahi, M., Armstrong, N. J., Aslibekyan, S., Bain, L., Jefferis, B., Baumert, J., Beekman, M., Ben-Shlomo, Y., Bis, J. C., Mitchell, B. D., de Geus, E., Delgado, G. E., Marek, D., Eriksson, J., Kajantie, E., Kanoni, S., Kemp, J. P., Lu, C., Marioni, R. E., McLachlan, S., Milaneschi, Y., Nolte, I. M., Petrelis, A. M., Porcu, E., Sabater-Lleal, M., Naderi, E., Seppälä, I., Shah, T., Singhal, G., Standl, M., Teumer, A., Thalamuthu, A., Thiering, E., Trompet, S., Ballantyne, C. M., Benjamin, E. J., Casas, J. P., Toben, C., Dedoussis, G., Deelen, J., Durda, P., Engmann, J., Feitosa, M. F., Grallert, H., Hammarstedt, A., Jess, T., Rossing, P., Sørensen, T. I. A. & CHARGE Inflammation Working Group, Mar 2021, In: Human Molecular Genetics. 30, 5, p. 393-409 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2020
  5. Published

    The Duffy-null genotype and risk of infection

    Legge, S. E., Christensen, R. H., Petersen, L., Pardiñas, A. F., Bracher-Smith, M., Knapper, S., Bybjerg-Grauholm, J., Baekvad-Hansen, M., Hougaard, D. M., Werge, T., Nordentoft, M., Mortensen, P. B., Owen, M. J., O'Donovan, M. C., Benros, M. E. & Walters, J. T. R., 18 Dec 2020, In: Human Molecular Genetics. 29, 20, p. 3341-3349 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2019
  7. Published

    Functional Assessment of Variants Associated with Wolfram Syndrome

    Riachi, M., Yilmaz, S., Kurnaz, E., Aycan, Z., Çetinkaya, S., Tranebjærg, L., Rendtorff, N. D., Bitner-Glindzicz, M., Bockenhauer, D. & Hussain, K., 15 Nov 2019, In: Human Molecular Genetics. 28, 22, p. 3815-3824

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

    Pelet, A., Skopova, V., Steuerwald, U., Baresova, V., Zarhrate, M., Plaza, J-M., Hnizda, A., Krijt, M., Souckova, O., Wibrand, F., Andorsdóttir, G., Joensen, F., Sedlak, D., Bleyer, A. J., Kmoch, S., Lyonnet, S. & Zikanova, M., 15 Nov 2019, In: Human Molecular Genetics. 28, 22, p. 3805-3814 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    A Trans-ancestral Meta-Analysis of Genome-Wide Association Studies Reveals Loci Associated with Childhood Obesity

    Early Growth Genetics Consortium, 1 Oct 2019, In: Human Molecular Genetics. 28, 19, p. 3327-3338 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2018
  11. Published

    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., Grgic, 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., Franks, P. W., Johansson, I. & Timpson, N. J., 1 Sep 2018, In: Human Molecular Genetics. 27, 17, p. 3113-3127 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

    Portnoi, M-F., Dumargne, M-C., Rojo, S., Witchel, S. F., Duncan, A. J., Eozenou, C., Bignon-Topalovic, J., Yatsenko, S. A., Rajkovic, A., Reyes-Mugica, M., Almstrup, K., Fusee, L., Srivastava, Y., Chantot-Bastaraud, S., Hyon, C., Louis-Sylvestre, C., Validire, P., de Malleray Pichard, C., Ravel, C., Christin-Maitre, S., Brauner, R., Rossetti, R., Persani, L., Charreau, E. H., Dain, L., Chiauzzi, V. A., Mazen, I., Rouba, H., Schluth-Bolard, C., MacGowan, S., McLean, W. H. I., Patin, E., Rajpert-De Meyts, E., Jauch, R., Achermann, J. C., Siffroi, J-P., McElreavey, K. & Bashamboo, A., 1 Apr 2018, In: Human Molecular Genetics. 27, 7, p. 1228-1240 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

    Beaumont, R. N., Warrington, N. M., Cavadino, A., Tyrrell, J., Nodzenski, M., Horikoshi, M., Geller, F., Myhre, R., Richmond, R. C., Paternoster, L., Bradfield, J. P., Kreiner-Møller, E., Huikari, V., Metrustry, S., Lunetta, K. L., Painter, J. N., Hottenga, J-J., Allard, C., Barton, S. J., Espinosa, A., Marsh, J. A., Potter, C., Zhang, G., Ang, W., Berry, D. J., Bouchard, L., Das, S., Hakonarson, H., Heikkinen, J., Helgeland, Ø., Hocher, B., Hofman, A., Inskip, H. M., Jones, S. E., Kogevinas, M., Lind, P. A., Marullo, L., Medland, S. E., Murray, A., Murray, J. C., Njølstad, P. R., Nohr, E. A., Reichetzeder, C., Ring, S. M., Ruth, K. S., Santa-Marina, L., Scholtens, D. M., Sebert, S., Bisgaard, H., Sørensen, T. I. & Early Growth Genetics (EGG) Consortium, Feb 2018, In: Human Molecular Genetics. 27, 4, p. 742-756 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published
  15. Published

    Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation

    Winge, S. B., Dalgaard, M. D., Jensen, J. M., Graem, N., Schierup, M. H., Juul, A., Rajpert-De Meyts, E. & Almstrup, K., 2018, In: Human Molecular Genetics. 27, 3, p. 430-39

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2017
  17. Published

    Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium

    Sharp, G. C., Salas, L. A., Monnereau, C., Allard, C., Yousefi, P., Everson, T. M., Bohlin, J., Xu, Z., Huang, R-C., Reese, S. E., Xu, C-J., Baïz, N., Hoyo, C., Agha, G., Roy, R., Holloway, J. W., Ghantous, A., Merid, S. K., Bakulski, K. M., Küpers, L. K., Zhang, H., Richmond, R. C., Page, C. M., Duijts, L., Lie, R. T., Melton, P. E., Vonk, J. M., Nohr, E. A., Williams-DeVane, C., Huen, K., Rifas-Shiman, S. L., Ruiz-Arenas, C., Gonseth, S., Rezwan, F. I., Herceg, Z., Ekström, S., Croen, L., Falahi, F., Perron, P., Karagas, M. R., Quraishi, B. M., Suderman, M., Magnus, M. C., Jaddoe, V. W. V., Taylor, J. A., Anderson, D., Zhao, S., Smit, H. A., Josey, M. J., Bradman, A., Baccarelli, A. A., Bustamante, M., Håberg, S. E., Pershagen, G., Hertz-Picciotto, I., Newschaffer, C., Corpeleijn, E., Bouchard, L., Lawlor, D. A., Maguire, R. L., Barcellos, L. F., Davey Smith, G., Eskenazi, B., Karmaus, W., Marsit, C. J., Hivert, M-F., Snieder, H., Fallin, M. D., Melén, E., Munthe-Kaas, M. C., Arshad, H., Wiemels, J. L., Annesi-Maesano, I., Vrijheid, M., Oken, E., Holland, N., Murphy, S. K., Sørensen, T. I. A., Koppelman, G. H., Newnham, J. P., Wilcox, A. J., Nystad, W., London, S. J., Felix, J. F. & Relton, C. L., 15 Oct 2017, In: Human Molecular Genetics. 26, 20, p. 4067-4085 19 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

    Quintana, A. M., Yu, H-C., Brebner, A., Pupavac, M., Geiger, E. A., Watson, A., Castro, V. L., Cheung, W., Chen, S-H., Watkins, D., Pastinen, T., Skovby, F., Appel, B., Rosenblatt, D. S. & Shaikh, T. H., 1 Aug 2017, In: Human Molecular Genetics. 26, 15, p. 2838-2849 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Discovery of novel heart rate-associated loci using the Exome Chip

    van den Berg, M. E., Warren, H. R., Cabrera, C. P., Verweij, N., Mifsud, B., Haessler, J., Bihlmeyer, N. A., Fu, Y-P., Weiss, S., Lin, H. J., Grarup, N., Li-Gao, R., Pistis, G., Shah, N., Brody, J. A., Müller-Nurasyid, M., Lin, H., Mei, H., Smith, A. V., Lyytikäinen, L-P., Hall, L. M., van Setten, J., Trompet, S., Prins, B. P., Isaacs, A., Radmanesh, F., Marten, J., Entwistle, A., Kors, J. A., Silva, C. T., Alonso, A., Bis, J. C., de Boer, R. A., de Haan, H. G., de Mutsert, R., Dedoussis, G. V., Dominiczak, A. F., Doney, A. S. F., Ellinor, P. T., Eppinga, R. N., Felix, S. B., Guo, X., Hagemeijer, Y., Hansen, T., Harris, T. B., Heckbert, S. R., Huang, P. L., Hwang, S-J., Kähönen, M., Kanters, J. K., Kolcic, I., Launer, L. J., Li, M., Yao, J., Linneberg, A., Liu, S., Macfarlane, P. W., Mangino, M., Morris, A. D., Mulas, A., Murray, A. D., Nelson, C. P., Orrù, M., Padmanabhan, S., Peters, A., Porteous, D. J., Poulter, N., Psaty, B. M., Qi, L., Raitakari, O. T., Rivadeneira, F., Roselli, C., Rudan, I., Sattar, N., Sever, P., Sinner, M. F., Soliman, E. Z., Spector, T. D., Stanton, A. V., Stirrups, K. E., Taylor, K. D., Tobin, M. D., Uitterlinden, A. G., Vaartjes, I., Hoes, A. W., van der Meer, P., Völker, U., Waldenberger, M., Xie, Z., Zoledziewska, M., Tinker, A., Polasek, O., Rosand, J., Jamshidi, Y., van Duijn, C. M., Zeggini, E., Jukema, J. W., Asselbergs, F. W., Samani, N. J., Lehtimäki, T., Gudnason, V., Wilson, J., Lubitz, S. A., Kääb, S., Sotoodehnia, N., Caulfield, M. J., Palmer, C. N. A., Sanna, S., Mook-Kanamori, D. O., Deloukas, P., Pedersen, O., Rotter, J. I., Dörr, M., O'Donnell, C. J., Hayward, C., Arking, D. E., Kooperberg, C., van der Harst, P., Eijgelsheim, M., Stricker, B. H. & Munroe, P. B., 15 Jun 2017, In: Human Molecular Genetics. 26, 12, p. 2346-2363 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

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

    Clayton, E. L., Mancuso, R., Nielsen, T. 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., Frej, A., Oliver, P. L., Gomez-Nicola, D. & Isaacs, A. M., 1 Mar 2017, In: Human Molecular Genetics. p. 873-887

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Klinefelter Syndrome Comorbidities Linked to Increased X Chromosome Gene Dosage and Altered Protein Interactome Activity

    Belling, K., Russo, F., Jensen, A. B., Dalgaard, M. D., Westergaard, D., Rajpert-De Meyts, E., Skakkebæk, N. E., Juul, A. & Brunak, S., 2017, In: Human Molecular Genetics. 26, 7, p. 1219-1229 doi: 10.1093/hmg/ddx014.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2016
  23. Published

    A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways

    Bustamante, M., Standl, M., Bassat, Q., Vilor-Tejedor, N., Medina-Gomez, C., Bonilla, C., Ahluwalia, T. S., Bacelis, J., Bradfield, J. P., Tiesler, C. M. T., Rivadeneira, F., Ring, S., Vissing, N. H., Fink, N. R., Jugessur, A., Mentch, F. D., Ballester, F., Kriebel, J., Kiefte-de Jong, J. C., Wolsk, H. M., Llop, S., Thiering, E., Beth, S. A., Timpson, N. J., Andersen, J., Schulz, H., Jaddoe, V. W. V., Evans, D. M., Waage, J., Hakonarson, H., Grant, S. F. A., Jacobsson, B., Bønnelykke, K., Bisgaard, H., Davey Smith, G., Moll, H. A., Heinrich, J., Estivill, X. & Sunyer, J., 15 Sep 2016, In: Human Molecular Genetics. 25, 18, p. 4127-4142

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

    Wyszynski, A., Hong, C-C., Lam, K., Michailidou, K., Lytle, C., Yao, S., Zhang, Y., Bolla, M. K., Wang, Q., Dennis, J., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Muir, K., Lophatananon, A., Fasching, P. A., Beckmann, M. W., Peto, J., Dos-Santos-Silva, I., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Nordestgaard, B. G., González-Neira, A., Benitez, J., Neuhausen, S. L., Brenner, H., Dieffenbach, A. K., Meindl, A., Schmutzler, R. K., Brauch, H., Nevanlinna, H., Khan, S., Matsuo, K., Ito, H., Dörk, T., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V-M., Wu, A. H., Van Den Berg, D., Lambrechts, D., Wildiers, H. & GENICA Network, Sep 2016, In: Human Molecular Genetics. 25, 17, p. 3863-3876

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

    Permuth, J. B., Pirie, A., Ann Chen, Y., Lin, H-Y., Reid, B. M., Chen, Z., Monteiro, A., Dennis, J., Mendoza-Fandino, G., Anton-Culver, H., Bandera, E. V., Bisogna, M., Brinton, L., Brooks-Wilson, A., Carney, M. E., Chenevix-Trench, G., Cook, L. S., Cramer, D. W., Cunningham, J. M., Cybulski, C., D'Aloisio, A. A., Anne Doherty, J., Earp, M., Edwards, R. P., Fridley, B. L., Gayther, S. A., Gentry-Maharaj, A., Goodman, M. T., Gronwald, J., Høgdall, E. V. S., Iversen, E. S., Jakubowska, A., Jensen, A., Karlan, B. Y., Kelemen, L. E., Kjær, S. K., Kraft, P., Le, N. D., Levine, D. A., Lissowska, J., Lubinski, J., Matsuo, K., Menon, U., Modugno, R., Moysich, K. B., Nakanishi, T., Ness, R. B., Olson, S., Orlow, I., Pearce, C. L. & AOCS Study Group, 15 Aug 2016, In: Human Molecular Genetics. 25, 16, p. 3600-3612 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Cytokine genes as potential biomarkers for muscle weakness in OPMD

    Riaz, M., Raz, Y., van der Slujis, B., Dickson, G., van Engelen, B., Vissing, J. & Raz, V., Aug 2016, In: Human Molecular Genetics. 25, 19, p. 4282-4287

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

    Sarzi, E., Seveno, M., Angebault, C., Milea, D., Rönnbäck, C., Quilès, M., Adrian, M., Grenier, J., Caignard, A., Lacroux, A., Lavergne, C., Reynier, P., Larsen, M., Hamel, C. P., Lenaers, G. & Müller, A., 15 Jun 2016, In: Human Molecular Genetics. 25, 12, p. 2539-2551 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    de la Hoya, M., Soukarieh, O., López-Perolio, I., Vega, A., Walker, L. C., van Ierland, Y., Baralle, D., Santamariña, M., Lattimore, V., Wijnen, J., Whiley, P., Blanco, A., Raponi, M., Hauke, J., Wappenschmidt, B., Becker, A., Hansen, T. V. O., Behar, R., Investigators, KC., Niederacher, D., Arnold, N., Dworniczak, B., Steinemann, D., Faust, U., Rubinstein, W., Hulick, P. J., Houdayer, C., Caputo, S. M., Castera, L., Pesaran, T., Chao, E., Brewer, C., Southey, M. C., van Asperen, C. J., Singer, C. F., Sullivan, J., Poplawski, N., Mai, P., Peto, J., Johnson, N., Burwinkel, B., Surowy, H., Bojesen, S. E., Flyger, H., Lindblom, A., Margolin, S., Chang-Claude, J., Rudolph, A., Radice, P., Galastri, L., Olson, J. E., Hallberg, E., Giles, G. G., Milne, R. L., Andrulis, I. L., Glendon, G., Hall, P., Czene, K., Blows, F., Shah, M., Wang, Q., Dennis, J., Michailidou, K., McGuffog, L., Bolla, M. K., Antoniou, A. C., Easton, D. F., Couch, F. J., Tavtigian, S., Vreeswijk, M. P., Parsons, M., Meeks, H. D., Martins, A., Goldgar, D. E. & Spurdle, A. B., 1 Jun 2016, In: Human Molecular Genetics. 25, 11, p. 2256-2268 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

    de Vries, P. S., Chasman, D. I., Sabater-Lleal, M., Chen, M-H., Huffman, J. E., Steri, M., Tang, W., Teumer, A., Marioni, R. E., Grossmann, V., Hottenga, J. J., Trompet, S., Müller-Nurasyid, M., Zhao, J. H., Brody, J. A., Kleber, M. E., Guo, X., Wang, J. J., Auer, P. L., Attia, J. R., Yanek, L. R., Ahluwalia, T. S., Lahti, J., Venturini, C., Tanaka, T., Bielak, L. F., Joshi, P. K., Rocanin-Arjo, A., Kolcic, I., Navarro, P., Rose, L. M., Oldmeadow, C., Riess, H., Mazur, J., Basu, S., Goel, A., Yang, Q., Ghanbari, M., Willemsen, G., Rumley, A., Fiorillo, E., de Craen, A. J. M., Grotevendt, A., Scott, R., Taylor, K. D., Delgado, G. E., Yao, J., Kifley, A., Kooperberg, C., Qayyum, R., Lopez, L. M., Berentzen, T. L., Räikkönen, K., Mangino, M., Bandinelli, S., Peyser, P. A., Wild, S., Trégouët, D-A., Wright, A. F., Marten, J., Zemunik, T., Morrison, A. C., Sennblad, B., Tofler, G., de Maat, M. P. M., de Geus, E. J. C., Lowe, G. D., Zoledziewska, M., Sattar, N., Binder, H., Völker, U., Waldenberger, M., Khaw, K-T., Mcknight, B., Huang, J., Jenny, N. S., Holliday, E. G., Qi, L., Mcevoy, M. G., Becker, D. M., Starr, J. M., Sarin, A-P., Hysi, P. G., Hernandez, D. G., Jhun, M. A., Campbell, H., Hamsten, A., Rivadeneira, F., Mcardle, W. L., Slagboom, P. E., Zeller, T., Koenig, W., Psaty, B. M., Haritunians, T., Liu, J., Palotie, A., Uitterlinden, A. G., Stott, D., Hofman, A., Franco, O. H., Polasek, O., Rudan, I., Morange, P-E., Wilson, J. F., Kardia, S. L. R., Ferrucci, L., Spector, T. D., Eriksson, J. G., Hansen, T., Deary, I. J., Becker, L. C., Scott, R. J., Mitchell, P., März, W., Wareham, N. J., Peters, A., Greinacher, A., Wild, P. S., Jukema, J. W., Boomsma, D. I., Hayward, C., Cucca, F., Tracy, R., Watkins, H., Reiner, A. P., Folsom, A. R., Ridker, P. M., O'Donnell, C. J., Smith, N. L., Strachan, D. P. & Dehghan, A., 15 Jan 2016, In: Human Molecular Genetics. 25, 2, p. 358-70 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

    Felix, J. F., Bradfield, J. P., Monnereau, C., van der Valk, R. J. P., Stergiakouli, E., Chesi, A., Gaillard, R., Feenstra, B., Thiering, E., Kreiner-Møller, E., Mahajan, A., Pitkänen, N., Joro, R., Cavadino, A., Huikari, V., Franks, S., Groen-Blokhuis, M. M., Cousminer, D. L., Marsh, J. A., Lehtimäki, T., Curtin, J. A., Vioque, J., Ahluwalia, T. S., Myhre, R., Price, T. S., Vilor-Tejedor, N., Yengo, L., Grarup, N., Ntalla, I., Ang, W., Atalay, M., Bisgaard, H., Blakemore, A. I., Bonnefond, A., Carstensen, L., Eriksson, J., Flexeder, C., Franke, L., Geller, F., Geserick, M., Hartikainen, A-L., Haworth, C. M. A., Hirschhorn, J. N., Hofman, A., Holm, J-C., Horikoshi, M., Pers, T. H., Waage, J., Bønnelykke, K., Sørensen, T. I. A. & Bone Mineral Density in Childhood Study (BMDCS), 15 Jan 2016, In: Human Molecular Genetics. 25, 2, p. 389-403 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes

    Pers, T. H., Timshel, P., Ripke, S., Lent, S., Sullivan, P. F., O'Donovan, M. C., Franke, L., Hirschhorn, J. N., Schizophrenia Working Group of the Psychiatric Genomics Consortium, Hansen, T. F., Werge, T. M. & Olsen, L., 10 Jan 2016, In: Human Molecular Genetics. 25, 6, p. 1247-1254

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Prenatal and early life influences on epigenetic age in children: a study of mother-offspring pairs from two cohort studies

    Simpkin, A. J., Hemani, G., Suderman, M., Gaunt, T. R., Lyttleton, O., Mcardle, W. L., Ring, S. M., Sharp, G. C., Tilling, K., Horvath, S., Kunze, S., Peters, A., Waldenberger, M., Ward-Caviness, C., Nohr, E. A., Sørensen, T. I. A., Relton, C. L. & Smith, G. D., 1 Jan 2016, In: Human Molecular Genetics. 25, 1, p. 191-201 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. 2015
  34. Published

    Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

    Lu, Y., Cuellar-Partida, G., Painter, J. N., Nyholt, D. R., Morris, A. P., Fasching, P. A., Hein, A., Burghaus, S., Beckmann, M. W., Lambrechts, D., Van Nieuwenhuysen, E., Vergote, I., Vanderstichele, A., Doherty, J. A., Rossing, M. A., Wicklund, K. G., Chang-Claude, J., Eilber, U., Rudolph, A., Wang-Gohrke, S., Goodman, M. T., Bogdanova, N., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I. B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L. M., Edwards, R. P., Kelley, J. L., Modugno, F., Moysich, K. B., Ness, R. B., Cannioto, R., Høgdall, E., Jensen, A., Giles, G. G., Bruinsma, F., Kjaer, S. K., Hildebrandt, M. A. T., Liang, D., Lu, K. H., Wu, X., Bisogna, M., Dao, F., Levine, D. A., Cramer, D. W. & Australian Ovarian Cancer Study, 15 Oct 2015, In: Human Molecular Genetics. 24, 20, p. 5955-64 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

    Amin Al Olama, A., Dadaev, T., Hazelett, D. J., Li, Q., Leongamornlert, D., Saunders, E. J., Stephens, S., Cieza-Borrella, C., Whitmore, I., Benlloch Garcia, S., Giles, G. G., Southey, M. C., Fitzgerald, L., Gronberg, H., Wiklund, F., Aly, M., Henderson, B. E., Schumacher, F., Haiman, C. A., Schleutker, J., Wahlfors, T., Tammela, T. L., Nordestgaard, B. G., Key, T. J., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Pharoah, P., Pashayan, N., Khaw, K-T., Stanford, J. L., Thibodeau, S. N., Mcdonnell, S. K., Schaid, D. J., Maier, C., Vogel, W., Luedeke, M., Herkommer, K., Kibel, A. S., Cybulski, C., Wokołorczyk, D., Kluzniak, W., Cannon-Albright, L., Brenner, H., Butterbach, K., Arndt, V., Park, J. Y., The PRACTICAL Consortium(Peter Iversen, Martin Andreas Røder, members), Iversen, P. (ed.) & Røder, M. A. (ed.), 1 Oct 2015, In: Human Molecular Genetics. 24, 19, p. 5589-602 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

    Hinttala, R., Sasarman, F., Nishimura, T., Antonicka, H., Brunel-Guitton, C., Schwartzentruber, J., Fahiminiya, S., Majewski, J., Faubert, D., Ostergaard, E., Smeitink, J. A. & Shoubridge, E. A., 15 Jul 2015, In: Human Molecular Genetics. 24, 14, p. 4103-13 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood

    Rönn, T., Volkov, P., Gillberg, L., Kokosar, M., Perfilyev, A., Jacobsen, A. L., Jørgensen, S. W., Brøns, C., Jansson, P-A., Eriksson, K-F., Pedersen, O., Hansen, T., Groop, L., Stener-Victorin, E., Vaag, A., Nilsson, E. & Ling, C., 1 Jul 2015, In: Human Molecular Genetics. 24, 13, p. 3792-813 22 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 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., Horikoshi, M., Veijola, R., Freathy, R. M., Teo, Y-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, B., Stokholm, J., 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., Eriksson, J., Bønnelykke, K. & Early Genetics and Lifecourse Epidemiology (EAGLE) Consortium, 15 Feb 2015, In: Human Molecular Genetics. 24, 4, p. 1155-68 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25

    Litchfield, K., Sultana, R., Renwick, A., Dudakia, D., Seal, S., Ramsay, E., Powell, S., Elliott, A., Warren-Perry, M., Eeles, R., Peto, J., Kote-Jarai, Z., Muir, K., Nsengimana, J., Stratton, M. R., Easton, D. F., Bishop, D. T., Huddart, R. A., Rahman, N., Turnbull, C., UKTCC & Nordestgaard, B. G., 15 Feb 2015, In: Human Molecular Genetics. 24, 4, p. 1169-76 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

    Lin, W-Y., Camp, N. J., Ghoussaini, M., Beesley, J., Michailidou, K., Hopper, J. L., Apicella, C., Southey, M. C., Stone, J., Schmidt, M. K., Broeks, A., Van't Veer, L. J., Th Rutgers, E. J., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M. K., Wang, Q., Dennis, J., Sawyer, E. J., Cheng, T., Tomlinson, I., Kerin, M. J., Miller, N., Marmé, F., Surowy, H. M., Burwinkel, B., Guénel, P., Truong, T., Menegaux, F., Mulot, C., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, M. P., Arias Perez, J. I., Menéndez, P., González-Neira, A., Pita, G. & GENICA Network, 1 Jan 2015, In: Human Molecular Genetics. 24, 1, p. 285-98 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

    Orr, N., Dudbridge, F., Dryden, N., Maguire, S., Novo, D., Perrakis, E., Johnson, N., Ghoussaini, M., Hopper, J. L., Southey, M. C., Apicella, C., Stone, J., Schmidt, M. K., Broeks, A., Van't Veer, L. J., Hogervorst, F. B., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Gibson, L., Aitken, Z., Warren, H., Sawyer, E., Tomlinson, I., Kerin, M. J., Miller, N., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Guénel, P., Truong, T., Cordina-Duverger, E., Sanchez, M., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, M. P., Arias Perez, J. I., Menéndez, P., Anton-Culver, H., Neuhausen, S. L., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Hamann, U. & The GENICA Network, 2015, In: Human Molecular Genetics. 24, 10, p. 2966-84

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. 2014
  43. Published

    Analysis of the ABCA4 genomic locus in Stargardt disease

    Zernant, J., Xie, Y. A., Ayuso, C., Riveiro-Alvarez, R., Lopez-Martinez, M-A., Simonelli, F., Testa, F., Gorin, M. B., Strom, S. P., Bertelsen, M., Rosenberg, T., Boone, P. M., Yuan, B., Ayyagari, R., Nagy, P. L., Tsang, S. H., Gouras, P., Collison, F. T., Lupski, J. R., Fishman, G. A. & Allikmets, R., 20 Dec 2014, In: Human Molecular Genetics. 23, 25, p. 6797-806 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

    Milne, R. L., Burwinkel, B., Michailidou, K., Arias-Perez, J-I., Zamora, M. P., Menéndez-Rodríguez, P., Hardisson, D., Mendiola, M., González-Neira, A., Pita, G., Alonso, M. R., Dennis, J., Wang, Q., Bolla, M. K., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M., Ko, Y-D., Brauch, H., Hamann, U., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Matsuo, K., Ito, H., Iwata, H., Tajima, K., Li, J., Brand, J. S., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Lambrechts, D., Peuteman, G., Christiaens, M-R., Smeets, A., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Hartman, M., Hui, M., Yen Lim, W., Wan Chan, C., Bojesen, S. E., Nordestgaard, B. G., Flyger, H. & GENICA Network, 15 Nov 2014, In: Human Molecular Genetics. 23, 22, p. 6096-111 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

    Purrington, K. S., Slettedahl, S., Bolla, M. K., Michailidou, K., Czene, K., Nevanlinna, H., Bojesen, S. E., Andrulis, I. L., Cox, A., Hall, P., Carpenter, J., Yannoukakos, D., Haiman, C. A., Fasching, P. A., Mannermaa, A., Winqvist, R., Brenner, H., Lindblom, A., Chenevix-Trench, G., Benitez, J., Swerdlow, A., Kristensen, V., Guénel, P., Meindl, A., Darabi, H., Eriksson, M., Fagerholm, R., Aittomäki, K., Blomqvist, C., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Wang, X., Olswold, C., Olson, J. E., Mulligan, A. M., Knight, J. A., Tchatchou, S., Reed, M. W. R., Cross, S. S., Liu, J., Li, J., Humphreys, K., Clarke, C., Scott, R., Fostira, F., Fountzilas, G., Konstantopoulou, I., Henderson, B. E., Schumacher, F. & ABCTB Investigators, 15 Nov 2014, In: Human Molecular Genetics. 23, 22, p. 6034-46 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Multi-ethnic fine-mapping of 14 central adiposity loci

    Liu, C-T., Buchkovich, M. L., Winkler, T. W., Heid, I. M., Borecki, I. B., Fox, C. S., Mohlke, K. L., North, K. E., Adrienne Cupples, L. & African Ancestry Anthropometry Genetics Consortium, 1 Sep 2014, In: Human Molecular Genetics. 23, 17, p. 4738-44 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age

    Deelen, J., Beekman, M., Uh, H-W., Broer, L., Ayers, K. L., Tan, Q., Kamatani, Y., Bennet, A. M., Tamm, R., Trompet, S., Guðbjartsson, D. F., Flachsbart, F., Rose, G., Viktorin, A., Fischer, K., Nygaard, M., Cordell, H. J., Crocco, P., van den Akker, E. B., Böhringer, S., Helmer, Q., Nelson, C. P., Saunders, G. I., Alver, M., Andersen-Ranberg, K., Breen, M. E., van der Breggen, R., Caliebe, A., Capri, M., Cevenini, E., Collerton, J. C., Dato, S., Davies, K., Ford, I., Gampe, J., Garagnani, P., de Geus, E. J. C., Harrow, J., van Heemst, D., Heijmans, B. T., Heinsen, F-A., Hottenga, J-J., Hofman, A., Jeune, B., Jonsson, P. V., Lathrop, M., Lechner, D., Martin-Ruiz, C., Mcnerlan, S. E., Mihailov, E., Montesanto, A., Mooijaart, S. P., Murphy, A., Nohr, E. A., Paternoster, L., Postmus, I., Rivadeneira, F., Ross, O. A., Salvioli, S., Sattar, N., Schreiber, S., Stefánsson, H., Stott, D., Tiemeier, H., Uitterlinden, A. G., Westendorp, R. G. J., Willemsen, G., Samani, N. J., Galan, P., Sørensen, T. I. A., Boomsma, D. I., Jukema, J. W., Rea, I. M., Passarino, G., de Craen, A. J. M., Christensen, K., Nebel, A., Stefánsson, K., Metspalu, A., Magnusson, P., Blanché, H., Christiansen, L., Kirkwood, T. B. L., van Duijn, C. M., Franceschi, C., Houwing-Duistermaat, J. J. & Slagboom, P. E., 15 Aug 2014, In: Human Molecular Genetics. 23, 16, p. 4420-32 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    FTO genetic variants, dietary intake, and body mass index: insights from 177,330 individuals

    Qi, Q., Kilpeläinen, T. O., Downer, M. K., Tanaka, T., Smith, C. E., Sluijs, I., Sonestedt, E., Chu, A. Y., Renström, F., Lin, X., Angquist, L. H., Huang, J., Liu, Z., Li, Y., Asif Ali, M., Xu, M., Ahluwalia, T. S., Boer, J. M. A., Chen, P., Daimon, M., Eriksson, J., Perola, M., Friedlander, Y., Gao, Y-T., Heppe, D. H. M., Holloway, J. W., Houston, D. K., Kanoni, S., Kim, Y-M., Laaksonen, M. A., Jääskeläinen, T., Lee, N. R., Lehtimäki, T., Lemaitre, R. N., Lu, W., Luben, R. N., Manichaikul, A., Männistö, S., Marques-Vidal, P., Monda, K. L., Ngwa, J. S., Perusse, L., van Rooij, F. J. A., Xiang, Y-B., Wen, W., Wojczynski, M. K., Zhu, J., Borecki, I. B., Bouchard, C., Cai, Q., Cooper, C., Dedoussis, G. V., Deloukas, P., Ferrucci, L., Forouhi, N. G., Hansen, T., Christiansen, L., Hofman, A., Johansson, I., Jørgensen, T., Karasawa, S., Khaw, K-T., Kim, M-K., Kristiansson, K., Li, H., Lin, X., Liu, Y., Lohman, K. K., Long, J., Mikkilä, V., Mozaffarian, D., North, K., Pedersen, O., Raitakari, O., Rissanen, H., Tuomilehto, J., van der Schouw, Y. T., Uitterlinden, A. G., Zillikens, M. C., Franco, O. H., Tai, E. S., Shu, X. O., Siscovick, D. S., Toft, U., Verschuren, W. M. M., Vollenweider, P., Wareham, N. J., Witteman, J. C. M., Zheng, W., Ridker, P. M., Kang, J. H., Liang, L., Jensen, M. K., Curhan, G. C., Pasquale, L. R., Hunter, D. J., Mohlke, K. L., Uusitupa, M., Cupples, L. A., Rankinen, T., Orho-Melander, M., Chasman, D. I., Franks, P. W., Sørensen, T. I. A., Hu, F. B., Loos, R. J. F., Nettleton, J. & Qi, L., 7 Aug 2014, In: Human Molecular Genetics. 23, 25, p. 6961-6972

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

    Minocherhomji, S., Hansen, C., Kim, H-G., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, H., Doh, G. D., Møllgård, K., Hertz, J. M., Nielsen, J. E., Ropers, H-H., Tümer, Z., Tommerup, N., Kalscheuer, V. M. & Silahtaroglu, A., 1 Jul 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot

    Grunert, M., Dorn, C., Schueler, M., Dunkel, I., Schlesinger, J., Mebus, S., Alexi-Meskishvili, V., Perrot, A., Wassilew, K., Timmermann, B., Hetzer, R., Berger, F. & Sperling, S. R., 15 Jun 2014, In: Human Molecular Genetics. 23, 12, p. 3115-28 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium

    Milne, R. L., Herranz, J., Michailidou, K., Dennis, J., Tyrer, J. P., Zamora, M. P., Arias-Perez, J. I., González-Neira, A., Pita, G., Alonso, M. R., Wang, Q., Bolla, M. K., Czene, K., Eriksson, M., Humphreys, K., Darabi, H., Li, J., Anton-Culver, H., Neuhausen, S. L., Ziogas, A., Clarke, C. A., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Chenevix-Trench, G., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Wang, X. & kConFab Investigators, 1 Apr 2014, In: Human Molecular Genetics. 23, 7, p. 1934-1946 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

    Perry, J. R. B., Hsu, Y-H., Chasman, D. I., Johnson, A. D., Elks, C., Albrecht, E., Andrulis, I. L., Beesley, J., Berenson, G. S., Bergmann, S., Bojesen, S. E., Bolla, M. K., Brown, J., Buring, J. E., Campbell, H., Chang-Claude, J., Chenevix-Trench, G., Corre, T., Couch, F. J., Cox, A., Czene, K., D'adamo, A. P., Davies, G., Deary, I. J., Dennis, J., Easton, D. F., Engelhardt, E. G., Eriksson, J. G., Esko, T., Fasching, P. A., Figueroa, J. D., Flyger, H., Fraser, A., Garcia-Closas, M., Gasparini, P., Gieger, C., Giles, G., Guenel, P., Hägg, S., Hall, P., Hayward, C., Hopper, J., Ingelsson, E., Kardia, S. L. R., Kasiman, K., Knight, J. A., Lahti, J., Lawlor, D. A., Magnusson, P. K. E., Margolin, S. & kConFab investigators, 8 Jan 2014, In: Human Molecular Genetics. 23, 9, p. 2490-7 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Genome-wide association study identifies three novel loci for type 2 diabetes

    Hara, K., Fujita, H., Johnson, T. A., Yamauchi, T., Yasuda, K., Horikoshi, M., Peng, C., Hu, C., Ma, R. C. W., Imamura, M., Iwata, M., Tsunoda, T., Morizono, T., Shojima, N., So, W. Y., Leung, T. F., Kwan, P., Zhang, R., Wang, J., Yu, W., Maegawa, H., Hirose, H., Kaku, K., Ito, C., Watada, H., Tanaka, Y., Tobe, K., Kashiwagi, A., Kawamori, R., Jia, W., Chan, J. C. N., Teo, Y. Y., Shyong, T. E., Kamatani, N., Kubo, M., Maeda, S., Kadowaki, T. & DIAGRAM consortium, 1 Jan 2014, In: Human Molecular Genetics. 23, 1, p. 239-46 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. 2013
  55. Published

    A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk

    Pooley, K. A., Bojesen, S. E., Weischer, M., Nielsen, S. F., Thompson, D., Amin Al Olama, A., Michailidou, K., Tyrer, J. P., Benlloch, S., Brown, J., Audley, T., Luben, R., Khaw, K-T., Neal, D. E., Hamdy, F. C., Donovan, J. L., Kote-Jarai, Z., Baynes, C., Shah, M., Bolla, M. K., Wang, Q., Dennis, J., Dicks, E., Yang, R., Rudolph, A., Schildkraut, J., Chang-Claude, J., Burwinkel, B., Chenevix-Trench, G., Pharoah, P. D. P., Berchuck, A., Eeles, R. A., Easton, D. F., Dunning, A. M. & Nordestgaard, B. G., 15 Dec 2013, In: Human Molecular Genetics. 22, 24, p. 5056-64 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. Published

    Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

    Kote-Jarai, Z., Saunders, E. J., Leongamornlert, D. A., Tymrakiewicz, M., Dadaev, T., Jugurnauth-Little, S., Ross-Adams, H., Al Olama, A. A., Benlloch, S., Halim, S., Russel, R., Dunning, A. M., Luccarini, C., Dennis, J., Neal, D. E., Hamdy, F. C., Donovan, J. L., Muir, K., Giles, G. G., Severi, G., Wiklund, F., Gronberg, H., Haiman, C. A., Schumacher, F., Henderson, B. E., Le Marchand, L., Lindstrom, S., Kraft, P., Hunter, D. J., Gapstur, S., Chanock, S., Berndt, S. I., Albanes, D., Andriole, G., Schleutker, J., Weischer, M., Canzian, F., Riboli, E., Key, T. J., Travis, R. C., Campa, D., Ingles, S. A., John, E. M., Hayes, R. B., Pharoah, P., Khaw, K-T., Stanford, J. L., Ostrander, E. A., Signorello, L. B., Bojesen, S. E. & COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative, 15 Jun 2013, In: Human Molecular Genetics. 22, 12, p. 2520-8 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. Published

    The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

    Ghelli, A., Tropeano, C. V., Calvaruso, M. A., Marchesini, A., Iommarini, L., Porcelli, A. M., Zanna, C., De Nardo, V., Martinuzzi, A., Wibrand, F., Vissing, J., Kurelac, I., Gasparre, G., Selamoglu, N., Daldal, F. & Rugolo, M., 1 Jun 2013, In: Human Molecular Genetics. 22, 11, p. 2141-51 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. Published

    A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

    Amin Al Olama, A., Kote-Jarai, Z., Schumacher, F. R., Wiklund, F., Berndt, S. I., Benlloch, S., Giles, G. G., Severi, G., Neal, D. E., Hamdy, F. C., Donovan, J. L., Hunter, D. J., Henderson, B. E., Thun, M. J., Gaziano, M., Giovannucci, E. L., Siddiq, A., Travis, R. C., Cox, D. G., Canzian, F., Riboli, E., Key, T. J., Andriole, G., Albanes, D., Hayes, R. B., Schleutker, J., Auvinen, A., Tammela, T. L. J., Weischer, M., Stanford, J. L., Ostrander, E. A., Cybulski, C., Lubinski, J., Thibodeau, S. N., Schaid, D. J., Sorensen, K. D., Batra, J., Clements, J. A., Chambers, S., Aitken, J., Gardiner, R. A., Maier, C., Vogel, W., Dörk, T., Brenner, H., Klarskov, P., Nordestgaard, B. G., Røder, M. A., Frikke-Schmidt, R., Bojesen, S. E. & The UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, 2013, In: Human Molecular Genetics. 22, 2, p. 408-415 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. Published

    Genome-wide Association and Longitudinal Analyses Reveal Genetic Loci Linking Pubertal Height Growth, Pubertal Timing, and Childhood Adiposity

    Cousminer, D. L., Berry, D. J., Timpson, N. J., Ang, X. W. E., Thiering, E., Byrne, E., Taal, H. R., Huikari, V., Bradfield, J. P., Kerkhof, M., Groen-Blokhuis, M. M., Kreiner-Møller, E., Marinelli, M., Holst, C., Leinonen, J. T., Perry, J. R. B., Surakka, I., Pietiläinen, O., Kettunen, J., Anttila, V., Kaakinen, M., Sovio, U., Pouta, A., Das, S., Lagou, V., Power, C., Prokopenko, I., Evans, D. M., Kemp, J. P., St Pourcain, B., Ring, S., Palotie, A., Kajantie, E., Osmond, C., Lehtimäki, T., Viikari, J. S., Kähönen, M., Warrington, N. M., Lye, S. J., Palmer, L. J., Tiesler, C. M. T., Flexeder, C., Montgomery, G. W., Medland, S. E., Hofman, A., Hakonarson, H., Guxens, M., Bartels, M., Sørensen, T. I. A., Bisgaard, H. & The ReproGen Consortium, 2013, In: Human Molecular Genetics. 22, 13, p. 2735-2747 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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