King's College London

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Research Outputs

  1. 2017
  2. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

    Jason, F., Fuchsberger, C., Mahajan, A., Teslovich, T. M., Agarwala, V., Gaulton, K. J., Caulkins, L., Koesterer, R., Ma, C., Moutsianas, L., McCarthy, D. J., Rivas, M. A., Perry, J. R. B., Sim, X., Blackwell, T. W., Robertson, N. R., Rayner, N. W., Cingolani, P., Locke, A. E., Tajes, J. F. & 281 others, Highland, H. M., Dupuis, J., Chines, P. S., Lindgren, C. M., Hartl, C., Jackson, A. U., Chen, H., Huyghe, J. R., van de Bunt, M., Pearson, R. D., Kumar, A., Müller-Nurasyid, M., Grarup, N., Stringham, H. M., Gamazon, E. R., Lee, J., Chen, Y., Scott, R. A., Below, J. E., Chen, P., Huang, J., Go, M. J., Stitzel, M. L., Pasko, D., Parker, S. C. J., Varga, T. V., Green, T., Beer, N. L., Day-Williams, A. G., Ferreira, T., Fingerlin, T., Horikoshi, M., Hu, C., Huh, I., Ikram, M. K., Kim, B-J., Kim, Y., Kim, Y. J., Kwon, M-S., Lee, J., Lee, S., Lin, K-H., Maxwell, T. J., Nagai, Y., Wang, X., Welch, R. P., Yoon, J., Zhang, W., Barzilai, N., Voight, B. F., Han, B-G., Jenkinson, C. P., Kuulasmaa, T., Kuusisto, J., Manning, A., Ng, M. C. Y., Palmer, N. D., Balkau, B., Stančáková, A., Abboud, H. E., Boeing, H., Giedraitis, V., Prabhakaran, D., Gottesman, O., Scott, J., Carey, J., Kwan, P., Grant, G., Smith, J. D., Neale, B. M., Purcell, S., Butterworth, A. S., Howson, J. M. M., Lee, H. M., Lu, Y., Kwak, S-H., Zhao, W., Danesh, J., Lam, V. K. L., Park, K. S., Saleheen, D., So, W. Y., Tam, C. H. T., Afzal, U., Aguilar, D., Arya, R., Aung, T., Chan, E., Navarro, C., Cheng, C-Y., Palli, D., Correa, A., Curran, J. E., Rybin, D., Farook, V. S., Fowler, S. P., Freedman, B. I., Griswold, M., Hale, D. E., Hicks, P. J., Khor, C-C., Kumar, S., Lehne, B., Thuillier, D., Lim, W. Y., Liu, J., Loh, M., Musani, S. K., Puppala, S., Scott, W. R., Yengo, L., Tan, S-T., Taylor, H. A., Thameem, F., Wilson, G., Wong, T. Y., Njølstad, P. R., Levy, J. C., Mangino, M., Bonnycastle, L. L., Schwarzmayr, T., Fadista, J., Surdulescu, G. L., Herder, C., Groves, C. J., Wieland, T., Bork-Jensen, J., Brandslund, I., Christensen, C., Koistinen, H. A., Doney, A. S. F., Kinnunen, L., Esko, T., Farmer, A. J., Hakaste, L., Hodgkiss, D., Kravic, J., Lyssenko, V., Hollensted, M., Jørgensen, M. E., Jørgensen, T., Ladenvall, C., Justesen, J. M., Käräjämäki, A., Kriebel, J., Rathmann, W., Lannfelt, L., Lauritzen, T., Narisu, N., Linneberg, A., Melander, O., Milani, L., Neville, M., Orho-Melander, M., Qi, L., Qi, Q., Roden, M., Rolandsson, O., Swift, A., Rosengren, A. H., Stirrups, K., Wood, A. R., Mihailov, E., Blancher, C., Carneiro, M. O., Maguire, J., Poplin, R., Shakir, K., Fennell, T., DePristo, M., de Angelis, M. H., Deloukas, P., Gjesing, A. P., Jun, G., Nilsson, P., Murphy, J., Onofrio, R., Thorand, B., Hansen, T., Meisinger, C., Hu, F. B., Isomaa, B., Karpe, F., Liang, L., Peters, A., Huth, C., O'Rahilly, S. P., Palmer, C. N. A., Pedersen, O., Rauramaa, R., Tuomilehto, J., Salomaa, V., Watanabe, R. M., Syvänen, A-C., Bergman, R. N., Bharadwaj, D., Bottinger, E. P., Cho, Y. S., Chandak, G. R., Chan, J. C., Chia, K. S., Daly, M. J., Ebrahim, S. B., Langenberg, C., Elliott, P., Jablonski, K. A., Lehman, D. M., Jia, W., Ma, R. C. W., Pollin, T. I., Sandhu, M., Tandon, N., Froguel, P., Barroso, I., Teo, Y. Y., Zeggini, E., Loos, R. J. F., Small, K. S., Ried, J. S., DeFronzo, R. A., Grallert, H., Glaser, B., Metspalu, A., Wareham, N. J., Walker, M., Banks, E., Gieger, C., Ingelsson, E., Im, H. K., Illig, T., Franks, P. W., Buck, G., Trakalo, J., Buck, D., Prokopenko, I., Mägi, R., Lind, L., Farjoun, Y., Owen, K. R., Gloyn, A. L., Strauch, K., Tuomi, T., Kooner, J. S., Lee, J-Y., Park, T., Donnelly, P., Morris, A. D., Hattersley, A. T., Bowden, D. W., Collins, F. S., Atzmon, G., Chambers, J. C., Spector, T. D., Laakso, M., Strom, T. M., Bell, G. I., Blangero, J., Duggirala, R., Tai, E. S., McVean, G., Hanis, C. L., Wilson, J. G., Seielstad, M., Frayling, T. M., Meigs, J. B., Cox, N. J., Sladek, R., Lander, E. S., Gabriel, S., Mohlke, K. L., Meitinger, T., Groop, L., Abecasis, G., Scott, L. J., Morris, A. P., Kang, H. M., Altshuler, D., Burtt, N. P., Florez, J. C., Boehnke, M. & McCarthy, M. I., 19 Dec 2017, In : Scientific Data. 4, p. 170179

    Research output: Contribution to journalArticle

  3. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

    Liu, F., Chen, Y., Zhu, G., Hysi, P. G., Wu, S., Adhikari, K., Breslin, K., Pospiech, E., Hamer, M. A., Peng, F., Muralidharan, C., Acuna-Alonzo, V., Canizales-Quinteros, S., Bedoya, G., Gallo, C., Poletti, G., Rothhammer, F., Bortolini, M. C., Gonzalez-Jose, R., Zeng, C. & 14 others, Xu, S., Jin, L., Uitterlinden, A. G., Ikram, M. A., van Duijn, C. M., Nijsten, T., Walsh, S., Branicki, W., Wang, S., Ruiz-Linares, A., Spector, T. D., Martin, N. G., Medland, S. E. & Kayser, M., 6 Dec 2017, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  4. Association of the resolvin precursor 17-HDHA, but not D-or E-series resolvins, with heat pain sensitivity and osteoarthritis pain in humans

    Valdes, A. M., Ravipati, S., Menni, C., Abhishek, A., Metrustry, S., Harris, J., Nessa, A., Williams, F. M. K., Spector, T. D., Doherty, M., Chapman, V. & Barrett, D. A., 1 Dec 2017, In : Scientific Reports. 7, 1, 10748.

    Research output: Contribution to journalArticle

  5. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

    Macé, A., Tuke, M. A., Deelen, P., Kristiansson, K., Mattsson, H., Nõukas, M., Sapkota, Y., Schick, U., Porcu, E., Rüeger, S., McDaid, A. F., Porteous, D., Winkler, T. W., Salvi, E., Shrine, N., Liu, X., Ang, W. Q., Zhang, W., Feitosa, M. F., Venturini, C. & 86 others, Van Der Most, P. J., Rosengren, A., Wood, A. R., Beaumont, R. N., Jones, S. E., Ruth, K. S., Yaghootkar, H., Tyrrell, J., Havulinna, A. S., Boers, H., Mägi, R., Kriebel, J., Müller-Nurasyid, M., Perola, M., Nieminen, M., Lokki, M. L., Kähönen, M., Viikari, J. S., Geller, F., Lahti, J., Palotie, A., Koponen, P., Lundqvist, A., Rissanen, H., Bottinger, E. P., Afaq, S., Wojczynski, M. K., Lenzini, P., Nolte, I. M., Sparsø, T., Schupf, N., Christensen, K., Perls, T. T., Newman, A. B., Werge, T., Snieder, H., Spector, T. D., Chambers, J. C., Koskinen, S., Melbye, M., Raitakari, O. T., Lehtimäki, T., Tobin, M. D., Wain, L. V., Sinisalo, J., Peters, A., Meitinger, T., Martin, N. G., Wray, N. R., Montgomery, G. W., Medland, S. E., Swertz, M. A., Vartiainen, E., Borodulin, K., Männistö, S., Murray, A., Bochud, M., Jacquemont, S., Rivadeneira, F., Hansen, T. F., Oldehinkel, A. J., Mangino, M., Province, M. A., Deloukas, P., Kooner, J. S., Freathy, R. M., Pennell, C., Feenstra, B., Strachan, D. P., Lettre, G., Hirschhorn, J., Cusi, D., Heid, I. M., Hayward, C., Männik, K., Beckmann, J. S., Loos, R. J. F., Nyholt, D. R., Metspalu, A., Eriksson, J. G., Weedon, M. N., Salomaa, V., Franke, L., Reymond, A., Frayling, T. M. & Kutalik, Z., 1 Dec 2017, In : Nature Communications. 8, 1, 744.

    Research output: Contribution to journalArticle

  6. Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood

    Lukowski, S. W., Lloyd-Jones, L. R., Holloway, A., Kirsten, H., Hemani, G., Yang, J., Small, K., Zhao, J., Metspalu, A., Dermitzakis, E. T., Gibson, G., Spector, T. D., Thiery, J., Scholz, M., Montgomery, G. W., Esko, T., Visscher, P. M. & Powell, J. E., 1 Dec 2017, In : Nature Communications. 8, 1, 483.

    Research output: Contribution to journalArticle

  7. Hippurate as a metabolomic marker of gut microbiome diversity: Modulation by diet and relationship to metabolic syndrome

    Pallister, T., Jackson, M. A., Martin, T. C., Zierer, J., Jennings, A., Mohney, R. P., MacGregor, A., Steves, C. J., Cassidy, A., Spector, T. D. & Menni, C., 1 Dec 2017, In : Scientific Reports. 7, 1, 13670.

    Research output: Contribution to journalArticle

  8. Integrative genomics of microglia implicates DLG4 (PSD95) in the white matter development of preterm infants

    Krishnan, M. L., Van Steenwinckel, J., Schang, A., Yan, J., Arnadottir, J., Le Charpentier, T., Csaba, Z., Dournaud, P., Cipriani, S., Auvynet, C., Titomanlio, L., Pansiot, J., Ball, G., Boardman, J. P., Walley, A. J., Saxena, A., Mirza, G., Fleiss, B., Edwards, A. D., Petretto, E. & 1 others, Gressens, P., 1 Dec 2017, In : Nature Communications. 8, 1

    Research output: Contribution to journalArticle

  9. Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues

    Brown, A. A., Viñuela, A., Delaneau, O., Spector, T. D., Small, K. S. & Dermitzakis, E. T., 1 Dec 2017, In : Nature Genetics. 49, 12, p. 1747-1751

    Research output: Contribution to journalLetter

  10. A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits

    Nolte, I. M., Jansweijer, J. A., Riese, H., Asselbergs, F. W., van der Harst, P., Spector, T. D., Pinto, Y. M., Snieder, H. & Jamshidi, Y., Dec 2017, In : TWIN RESEARCH AND HUMAN GENETICS. p. 1-10 10 p.

    Research output: Contribution to journalArticle

  11. Exome-wide association study of plasma lipids in >300,000 individuals

    Liu, D. J., Peloso, G. M., Yu, H., Butterworth, A. S., Wang, X., Mahajan, A., Saleheen, D., Emdin, C., Alam, D., Alves, A. C., Amouyel, P., Di Angelantonio, E., Arveiler, D., Assimes, T. L., Auer, P. L., Baber, U., Ballantyne, C. M., Bang, L. E., Benn, M., Bis, J. C. & 31 others, Boehnke, M., Boerwinkle, E., Bork-Jensen, J., Bottinger, E. P., Brandslund, I., Brown, M., Busonero, F., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y. E., Chen, Y-D. I., Chowdhury, R., Christensen, C., Chu, A. Y., Connell, J. M., Cucca, F., Cupples, L. A., Damrauer, S. M., Davies, G., Deary, I. J., Dedoussis, G., Denny, J. C., Dominiczak, A., Dubé, M-P., Ebeling, T., Eiriksdottir, G., Esko, T., Small, K. S., Spector, T. D. & Charge Diabetes Working Group, Dec 2017, In : Nature Genetics. 49, 12, p. 1758-1766 9 p.

    Research output: Contribution to journalLetter

  12. Fragilité cutanée et kératodermie palmoplantaire : pensez (aussi) au PLACK Syndrome: Journées Dermatologiques de Paris 2017

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C. K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J. P., Dec 2017, In : Annales De Dermatologie et De Venereologie. 144, 12, Supplement, p. S79-S80

    Research output: Contribution to journalMeeting abstract

  13. Predicting brain age with deep learning from raw imaging data results in a reliable and heritable biomarker

    Cole, J. H., Poudel, R. P. K., Tsagkrasoulis, D., Caan, M. W. A., Steves, C., Spector, T. D. & Montana, G., Dec 2017, In : NeuroImage. 163, p. 115-124

    Research output: Contribution to journalArticle

  14. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation

    Richard, M. A., Huan, T., Ligthart, S., Gondalia, R., Jhun, M. A., Brody, J. A., Irvin, M. R., Marioni, R., Shen, J., Tsai, P-C., Montasser, M. E., Jia, Y., Syme, C., Salfati, E. L., Boerwinkle, E., Guan, W., Mosley, T. H., Bressler, J., Morrison, A. C., Liu, C. & 31 others, Mendelson, M. M., Uitterlinden, A. G., van Meurs, J. B., Franco, O. H., Zhang, G., Li, Y., Stewart, J. D., Bis, J. C., Psaty, B. M., Chen, Y-D. I., Kardia, S. L. R., Zhao, W., Turner, S. T., Absher, D., Aslibekyan, S., Starr, J. M., McRae, A. F., Hou, L., Just, A. C., Schwartz, J. D., Vokonas, P. S., Menni, C., Spector, T. D., Shuldiner, A., Damcott, C. M., Rotter, J. I., Palmas, W., Liu, Y., Paus, T., Bell, J. T. & BIOS Consortium, 30 Nov 2017, In : American Journal of Human Genetics.

    Research output: Contribution to journalArticle

  15. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

    Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mahmoudi, H., Touati, A., Abiri, M., Kajbafzadeh, A. M., Aristodemou, S., Liu, L., McGrath, J. A., Ertel, A., Londin, E., Kariminejad, A., Zeinali, S., Fortina, P. & Uitto, J., 11 Nov 2017, In : Matrix Biology.

    Research output: Contribution to journalArticle

  16. Epigenetic discrimination of identical twins from blood under the forensic scenario

    Vidaki, A., López, C. D., Carnero-Montoro, E., Ralf, A., Ward, K., Spector, T., Bell, J. T. & Kayser, M., Nov 2017, In : Forensic Science International-Genetics. 31, p. 67-80 14 p.

    Research output: Contribution to journalArticle

  17. IgG glycosylation and DNA methylation are interconnected with smoking

    Wahl, A., Kasela, S., Monotoro, E. C., van Iterson, M., Štambuk, J., Sharma, S., van den Akker, E., Klaric, L., Benedetti, E., Razdorov, G., Trbojević-Akmačić, I., Vučković, F., Ugrina, I., Beekman, M., Deelen, J., van Heemst, D., Heijmans, B. T., Consortium, B. I. O. S., Wuhrer, M., Plomp, R. & 14 others, Keser, T., Šimurina, M., Pavić, T., Gudelj, I., Krištić, J., Grallert, H., Kunze, S., Peters, A., Bell, J. T., Spector, T. D., Milani, L., Eline Slagboom, P., Lauc, G. & Gieger, C., 18 Oct 2017, In : BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS. 1862, 3, p. 637-648

    Research output: Contribution to journalArticle

  18. Differential DNA Methylation in Monozygotic Twins Discordant for Female Sexual Functioning

    Burri, A., Leupin, M., Spector, T. & Marinova, Z., 28 Sep 2017, In : JOURNAL OF SEXUAL MEDICINE. 14, 11, p. 1357-1364

    Research output: Contribution to journalArticle

  19. Caveolin-1 controls hyperresponsiveness to mechanical stimuli and fibrogenesis-associated RUNX2 activation in keloid fibroblasts

    Hsu, C-K., Lin, H-H., Harn, H. I-C., Ogawa, R., Wang, Y-K., Ho, Y-T., Chen, W-R., Lee, Y-C., Lee, J. Y-Y., Shieh, S-J., Cheng, C-M., McGrath, J. A. & Tang, M-J., 9 Sep 2017, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  20. 227 Patient pre-selection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Lwin, S. M., Gaucher, S., Titeux, M., Abdul-Wahab, A., Pironon, N., Miskinyte, S., GANIER, C., Duchatelet, S., McGrath, J. & Hovnanian, A., 8 Sep 2017, In : Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S231

    Research output: Contribution to journalArticle

  21. 261 Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Tziotzios, C., Ainali, C., Onoufriadis, A., Cunningham, F., Palamaras, I., Stefanato, C. M., Kirkpatrick, N., Vano-Galvan, S., Fenton, D. A. & McGrath, J., 8 Sep 2017, In : Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S237

    Research output: Contribution to journalMeeting abstract

  22. Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45

    Straussberg, R., Onoufriadis, A., Konen, O., Zouabi, Y., Cohen, L., Lee, J. Y. W., Hsu, C-K., Simpson, M. A. & McGrath, J. A., 8 Sep 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticle

  23. Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation

    Shen, X., Klarić, L., Sharapov, S., Mangino, M., Ning, Z., Wu, D., Trbojević-Akmačić, I., Pučić-Baković, M., Rudan, I., Polašek, O., Hayward, C., Spector, T. D., Wilson, J. F., Lauc, G. & Aulchenko, Y. S., 6 Sep 2017, In : Nature Communications. 8, 1, 447.

    Research output: Contribution to journalArticle

  24. Amelexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: Potential for recessive dystrophic epidermolysis bullosa

    Atanasova, V., Jiang, Q., Prisco, M., Gruber, C., Piñón Hofbauer, J., Chen, M., Has, C., Leena, B-T., McGrath, J. A., Uitto, J. & South, A. P., 1 Sep 2017, In : Journal of Investigative Dermatology. 137, 9, p. 1842-1849

    Research output: Contribution to journalArticle

  25. Genome-Wide Association Reveals Pigmentation Genes Play a Role in Skin Aging

    Law, M. H., Medland, S. E., Zhu, G., Yazar, S., Viñuela, A., Wallace, L., Shekar, S. N., Duffy, D. L., Bataille, V., Glass, D., Spector, T. D., Wood, D., Gordon, S. D., Barbour, J. M., Henders, A. K., Hewitt, A. W., Montgomery, G. W., Sturm, R. A., Mackey, D. A., Green, A. C. & 2 others, Martin, N. G. & MacGregor, S., Sep 2017, In : Journal of Investigative Dermatology. 137, 9, p. 1887-1894

    Research output: Contribution to journalArticle

  26. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

    Wheeler, E., Leong, A., Liu, C-T., Hivert, M-F., Strawbridge, R. J., Podmore, C., Li, M., Yao, J., Sim, X., Hong, J., Chu, A. Y., Zhang, W., Wang, X., Chen, P., Maruthur, N. M., Porneala, B. C., Sharp, S. J., Jia, Y., Kabagambe, E. K., Chang, L-C. & 31 others, Chen, W-M., Elks, C. E., Evans, D. S., Fan, Q., Giulianini, F., Go, M. J., Hottenga, J-J., Hu, Y., Jackson, A. U., Kanoni, S., Kim, Y. J., Kleber, M. E., Ladenvall, C., Lecoeur, C., Lim, S-H., Lu, Y., Mahajan, A., Marzi, C., Nalls, M. A., Navarro, P., Nolte, I. M., Rose, L. M., Rybin, D. V., Sanna, S., Shi, Y., Stram, D. O., Takeuchi, F., Tan, S. P., van der Most, P. J., Spector, T. D. & EPIC-CVD Consortium, Sep 2017, In : PL o S Medicine. 14, 9, p. e1002383

    Research output: Contribution to journalArticle

  27. Genetic and environmental influences on stability and change in baseline levels of C-reactive protein: A longitudinal twin study

    Sas, A. A., Vaez, A., Jamshidi, Y., Nolte, I. M., Kamali, Z., Spector, T. D., Riese, H. & Snieder, H., 31 Aug 2017, In : Atherosclerosis.

    Research output: Contribution to journalArticle

  28. Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand

    Hollander, W. D., Boer, C. G., Hart, D. J., Yau, M. S., Ramos, Y. F. M., Metrustry, S., Broer, L., Deelen, J., Cupples, L. A., Rivadeneira, F., Kloppenburg, M., Peters, M., Spector, T. D., Hofman, A., Slagboom, P. E., Nelissen, R. G. H. H., Uitterlinden, A. G., Felson, D. T., Valdes, A. M., Meulenbelt, I. & 1 others, van Meurs, J. J. B., 30 Aug 2017, In : Annals of the rheumatic diseases. 76, 12, p. 2046-2053

    Research output: Contribution to journalArticle

  29. Reactive astrocyte COX2-PGE2 production inhibits oligodendrocyte maturation in neonatal white matter injury

    Shiow, L. R., Favrais, G., Schirmer, L., Schang, A-L., Cipriani, S., Andres, C., Wright, J. N., Nobuta, H., Fleiss, B., Gressens, P. & Rowitch, D. H., 30 Aug 2017, In : Glia.

    Research output: Contribution to journalArticle

  30. Differences in genetic and environmental variation in adult BMI by sex, age, time period, and region: An individual-based pooled analysis of 40 twin cohorts

    Silventoinen, K., Jelenkovic, A., Sund, R., Yokoyama, Y., Hur, Y. M., Cozen, W., Hwang, A. E., Mack, T. M., Honda, C., Inui, F., Iwatani, Y., Watanabe, M., Tomizawa, R., Pietilainen, K. H., Rissanen, A., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Rijsdijk, F., Tan, Q. & 82 others, Zhang, D., Pang, Z., Piirtola, M., Aaltonen, S., Oncel, S. Y., Aliev, F., Rebato, E., Hjelmborg, J. B., Christensen, K., Skytthe, A., Kyvik, K. O., Silberg, J. L., Eaves, L. J., Cutler, T. L., Ordonana, J. R., Sanchez-Romera, J. F., Colodro-Conde, L., Song, Y. M., Yang, S., Lee, K., Franz, C. E., Kremen, W. S., Lyons, M. J., Busjahn, A., Nelson, T. L., Whitfield, K. E., Kandler, C., Jang, K. L., Gatz, M., Butler, D. A., Stazi, M. A., Fagnani, C., D'Ippolito, C., Duncan, G. E., Buchwald, D., Martin, N. G., Medland, S. E., Montgomery, G. W., Jeong, H. U., Swan, G. E., Krasnow, R., Magnusson, P. K. E., Pedersen, N. L., Dahl Aslan, A. K., McAdams, T. A., Eley, T. C., Gregory, A. M., Tynelius, P., Baker, L. A., Tuvblad, C., Bayasgalan, G., Narandalai, D., Spector, T. D., Mangino, M., Lachance, G., Burt, S. A., Klump, K. L., Harris, J. R., Brandt, I., Nilsen, T. S., Krueger, R. F., McGue, M., Pahlen, S., Corley, R. P., Huibregtse, B. M., Bartels, M., Van Beijsterveldt, C. E. M., Willemsen, G., Goldberg, J. H., Rasmussen, F., Tarnoki, A. D., Tarnoki, D. L., Derom, C. A., Vlietinck, R. F., Loos, R. J. F., Hopper, J. L., Sung, J., Maes, H. H., Turkheimer, E., Boomsma, D. I., Sørensen, T. I. A. & Kaprio, J., 1 Aug 2017, In : American Journal of Clinical Nutrition. 106, 2, p. 457-466 10 p.

    Research output: Contribution to journalArticle

  31. Inference and quantification of peptidoforms in large sample cohorts by SWATH-MS

    Rosenberger, G., Liu, Y., Röst, H. L., Ludwig, C., Buil, A., Bensimon, A., Soste, M., Spector, T. D., Dermitzakis, E. T., Collins, B. C., Malmström, L. & Aebersold, R., 1 Aug 2017, In : Nature Biotechnology. 35, 8, p. 781-788 8 p.

    Research output: Contribution to journalArticle

  32. Pain in knee osteoarthritis is associated with variation in the neurokinin 1/substance P receptor (TACR1) gene

    Warner, S. C., Walsh, D. A., Laslett, L. L., Maciewicz, R. A., Soni, A., Hart, D. J., Zhang, W., Muir, K. R., Dennison, E. M., Leaverton, P., Rampersaud, E., Cooper, C., Spector, T. D., Cicuttini, F. M., Arden, N. K., Jones, G., Doherty, M. & Valdes, A. M., Aug 2017, In : European journal of pain (London, England). p. 1277-1284

    Research output: Contribution to journalArticle

  33. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

    Takeichi, T., Torrelo, A., Lee, J. Y. W., Ohno, Y., Lozano, M. L., Kihara, A., Liu, L., Yasuda, Y., Ishikawa, J., Murase, T., Rodrigo, A. B., Fernández-Crehuet, P., Toi, Y., Mellerio, J., Rivera, J., Vicente, V., Kelsell, D. P., Nishimura, Y., Okuno, Y., Kojima, D. & 6 others, Ogawa, Y., Sugiura, K., Simpson, M. A., McLean, W. H. I., Akiyama, M. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2344-2353

    Research output: Contribution to journalArticle

  34. Metabolomic Profiling of Long-Term Weight Change: Role of Oxidative Stress and Urate Levels in Weight Gain

    Menni, C., Migaud, M., Kastenmüller, G., Pallister, T., Zierer, J., Peters, A., Mohney, R. P., Spector, T. D., Bagnardi, V., Gieger, C., Moore, S. C. & Valdes, A. M., 31 Jul 2017, In : Obesity. 25, 9, p. 1618-1624

    Research output: Contribution to journalArticle

  35. Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia

    Tziotzios, C., Ainali, C., Holmes, S., Cunningham, F., Lwin, S. M., Palamaras, I., Bhargava, K., Rymer, J., Stefanato, C., Kirkpatrick, N., Vano-Galvan, S., Petridis, C., Fenton, D. A., Simpson, M. A., Onoufriadis, A. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2440-2443

    Research output: Contribution to journalLetter

  36. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

    Zillikens, M. C., Demissie, S., Hsu, Y-H., Yerges-Armstrong, L. M., Chou, W-C., Stolk, L., Livshits, G., Broer, L., Johnson, T., Koller, D. L., Kutalik, Z., Luan, J., Malkin, I., Ried, J. S., Smith, A. V., Thorleifsson, G., Vandenput, L., Hua Zhao, J., Zhang, W., Aghdassi, A. & 173 others, Åkesson, K., Amin, N., Baier, L. J., Barroso, I., Bennett, D. A., Bertram, L., Biffar, R., Bochud, M., Boehnke, M., Borecki, I. B., Buchman, A. S., Byberg, L., Campbell, H., Campos Obanda, N., Cauley, J. A., Cawthon, P. M., Cederberg, H., Chen, Z., Cho, N. H., Jin Choi, H., Claussnitzer, M., Collins, F., Cummings, S. R., De Jager, P. L., Demuth, I., Dhonukshe-Rutten, R. A. M., Diatchenko, L., Eiriksdottir, G., Enneman, A. W., Erdos, M., Eriksson, J. G., Eriksson, J., Estrada, K., Evans, D. S., Feitosa, M. F., Fu, M., Garcia, M., Gieger, C., Girke, T., Glazer, N. L., Grallert, H., Grewal, J., Han, B-G., Hanson, R. L., Hayward, C., Hofman, A., Hoffman, E. P., Homuth, G., Hsueh, W-C., Hubal, M. J., Hubbard, A., Huffman, K. M., Husted, L. B., Illig, T., Ingelsson, E., Ittermann, T., Jansson, J-O., Jordan, J. M., Jula, A., Karlsson, M., Khaw, K-T., Kilpeläinen, T. O., Klopp, N., Kloth, J. S. L., Koistinen, H. A., Kraus, W. E., Kritchevsky, S., Kuulasmaa, T., Kuusisto, J., Laakso, M., Lahti, J., Lang, T., Langdahl, B. L., Launer, L. J., Lee, J-Y., Lerch, M. M., Lewis, J. R., Lind, L., Lindgren, C., Liu, Y., Liu, T., Liu, Y., Ljunggren, Ö., Lorentzon, M., Luben, R. N., Maixner, W., McGuigan, F. E., Medina-Gomez, C., Meitinger, T., Melhus, H., Mellström, D., Melov, S., Michaëlsson, K., Mitchell, B. D., Morris, A. P., Mosekilde, L., Newman, A., Nielson, C. M., O'Connell, J. R., Oostra, B. A., Orwoll, E. S., Palotie, A., Parker, S. C. J., Peacock, M., Perola, M., Peters, A., Polasek, O., Prince, R. L., Räikkönen, K., Ralston, S. H., Ripatti, S., Robbins, J. A., Rotter, J. I., Rudan, I., Salomaa, V., Satterfield, S., Schadt, E. E., Schipf, S., Scott, L., Sehmi, J., Shen, J., Soo Shin, C., Sigurdsson, G., Smith, S., Soranzo, N., Stančáková, A., Steinhagen-Thiessen, E., Streeten, E. A., Styrkarsdottir, U., Swart, K. M. A., Tan, S-T., Tarnopolsky, M. A., Thompson, P., Thomson, C. A., Thorsteinsdottir, U., Tikkanen, E., Tranah, G. J., Tuomilehto, J., van Schoor, N. M., Verma, A., Vollenweider, P., Völzke, H., Wactawski-Wende, J., Walker, M., Weedon, M. N., Welch, R., Wichmann, H-E., Widen, E., Williams, F., Wilson, J. F., Wright, N. C., Xie, W., Yu, L., Zhou, Y., Chambers, J. C., Döring, A., van Duijn, C. M., Econs, M. J., Gudnason, V., Kooner, J. S., Psaty, B. M., Spector, T., Stefansson, K., Rivadeneira, F., Uitterlinden, A. G., Wareham, N. J., Ossowski, V., Waterworth, D., Loos, R. J. F., Karasik, D., Harris, T. B., Ohlsson, C. & Kiel, D. P., 19 Jul 2017, In : Nature Communications. 8, 1, p. 80

    Research output: Contribution to journalArticle

  37. Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation

    Mullin, B. H., Zhao, J. H., Brown, S. J., Perry, J. R. B., Luan, J., Zheng, H-F., Langenberg, C., Dudbridge, F., Scott, R., Wareham, N. J., Spector, T. D., Richards, J. B., Walsh, J. P. & Wilson, S. G., 15 Jul 2017, In : Human Molecular Genetics. 26, 14, p. 2791-2802 12 p.

    Research output: Contribution to journalArticle

  38. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

    Willems, S. M., Wright, D. J., Day, F. R., Trajanoska, K., Joshi, P. K., Morris, J. A., Matteini, A. M., Garton, F. C., Grarup, N., Oskolkov, N., Thalamuthu, A., Mangino, M., Liu, J., Demirkan, A., Lek, M., Xu, L., Wang, G., Oldmeadow, C., Gaulton, K. J., Lotta, L. A. & 141 others, Miyamoto-Mikami, E., Rivas, M. A., White, T., Loh, P. R., Aadahl, M., Amin, N., Attia, J. R., Austin, K., Benyamin, B., Brage, S., Cheng, Y. C., Ciȩszczyk, P., Derave, W., Eriksson, K. F., Eynon, N., Linneberg, A., Lucia, A., Massidda, M., Mitchell, B. D., Miyachi, M., Murakami, H., Padmanabhan, S., Pandey, A., Papadimitriou, I., Rajpal, D. K., Sale, C., Schnurr, T. M., Sessa, F., Shrine, N., Tobin, M. D., Varley, I., Wain, L. V., Wray, N. R., Lindgren, C. M., MacArthur, D. G., Waterworth, D. M., McCarthy, M. I., Pedersen, O., Khaw, K. T., Kiel, D. P., Pitsiladis, Y., Fuku, N., Franks, P. W., North, K. N., Van Duijn, C. M., Mather, K. A., Hansen, T., Hansson, O., Spector, T., Murabito, J. M., Richards, J. B., Rivadeneira, F., Langenberg, C., Perry, J. R. B., Wareham, N. J., Scott, R. A., Oei, L., Zheng, H. F., Forgetta, V., Leong, A., Ahmad, O. S., Laurin, C., Mokry, L. E., Ross, S., Elks, C. E., Bowden, J., Warrington, N. M., Murray, A., Ruth, K. S., Tsilidis, K. K., Medina-Gómez, C., Estrada, K., Bis, J. C., Chasman, D. I., Demissie, S., Enneman, A. W., Hsu, Y. H., Ingvarsson, T., Kähönen, M., Kammerer, C., Lacroix, A. Z., Li, G., Liu, C. T., Liu, Y., Lorentzon, M., Mägi, R., Mihailov, E., Milani, L., Moayyeri, A., Nielson, C. M., Sham, P. C., Siggeirsdotir, K., Sigurdsson, G., Stefansson, K., Trompet, S., Thorleifsson, G., Vandenput, L., Van Der Velde, N., Viikari, J., Xiao, S. M., Zhao, J. H., Evans, D. S., Cummings, S. R., Cauley, J., Duncan, E. L., De Groot, L. C. P. G. M., Esko, T., Gudnason, V., Harris, T. B., Jackson, R. D., Jukema, J. W., Ikram, A. M. A., Karasik, D., Kaptoge, S., Kung, A. W. C., Lehtimäki, T., Lyytikäinen, L. P., Lips, P., Luben, R., Metspalu, A., Van Meurs, J. B. J., Minster, R. L., Orwoll, E., Oei, E., Psaty, B. M., Raitakari, O. T., Ralston, S. W., Ridker, P. M., Robbins, J. A., Smith, A. V., Styrkarsdottir, U., Tranah, G. J., Thorstensdottir, U., Uitterlinden, A. G., Zmuda, J., Zillikens, M. C., Ntzani, E. E., Evangelou, E., Ioannidis, J. P. A., Evans, D. M. & Ohlsson, C., 12 Jul 2017, In : Nature Communications. 8, 16015.

    Research output: Contribution to journalArticle

  39. Erratum to: Influence of acquired obesity on coronary vessel wall late gadolinium enhancement in discordant monozygote twins

    Makowski, M. R., Jansen, C. H. P., Ebersberger, U., Schaeffter, T., Razavi, R., Mangino, M., Spector, T. D., Botnar, R. & Greil, G. F., 4 Jul 2017, In : European Radiology. p. 1 1 p.

    Research output: Contribution to journalArticle

  40. Affective responses to sweet products and sweet solution in British and Finnish adults

    Tuorila, H., Keskitalo-Vuokko, K., Perola, M., Spector, T. & Kaprio, J., 1 Jul 2017, In : FOOD QUALITY AND PREFERENCE.

    Research output: Contribution to journalArticle

  41. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

    Manning, A., Highland, H. M., Gasser, J., Sim, X., Tukiainen, T., Fontanillas, P., Grarup, N., Rivas, M. A., Mahajan, A., Locke, A. E., Cingolani, P., Pers, T. H., Viñuela, A., Brown, A. A., Wu, Y., Flannick, J., Fuchsberger, C., Gamazon, E. R., Gaulton, K. J., Im, H. K. & 243 others, Teslovich, T. M., Blackwell, T. W., Bork-Jensen, J., Burtt, N. P., Chen, Y., Green, T., Hartl, C., Kang, H. M., Kumar, A., Ladenvall, C., Ma, C., Moutsianas, L., Pearson, R. D., Perry, J. R. B., Rayner, N. W., Robertson, N. R., Scott, L. J., van de Bunt, M., Eriksson, J. G., Jula, A., Koskinen, S., Lehtimäki, T., Palotie, A., Raitakari, O. T., Jacobs, S. B. R., Wessel, J., Chu, A. Y., Scott, R. A., Goodarzi, M. O., Blancher, C., Buck, G., Buck, D., Chines, P. S., Gabriel, S., Gjesing, A. P., Groves, C. J., Hollensted, M., Huyghe, J. R., Jackson, A. U., Jun, G., Justesen, J. M., Mangino, M., Murphy, J., Neville, M., Onofrio, R., Small, K. S., Stringham, H. M., Trakalo, J., Banks, E., Carey, J., Carneiro, M. O., DePristo, M., Farjoun, Y., Fennell, T., Goldstein, J. I., Grant, G., Hrabé de Angelis, M., Maguire, J., Neale, B. M., Poplin, R., Purcell, S., Schwarzmayr, T., Shakir, K., Smith, J. D., Strom, T. M., Wieland, T., Lindstrom, J., Brandslund, I., Christensen, C., Surdulescu, G. L., Lakka, T. A., Doney, A. S. F., Nilsson, P., Wareham, N. J., Langenberg, C., Varga, T. V., Franks, P. W., Rolandsson, O., Rosengren, A. H., Farook, V. S., Thameem, F., Puppala, S., Kumar, S., Lehman, D. M., Jenkinson, C. P., Curran, J. E., Hale, D. E., Fowler, S. P., Arya, R., DeFronzo, R. A., Abboud, H. E., Syvänen, A-C., Hicks, P. J., Palmer, N. D., Ng, M. C. Y., Bowden, D. W., Freedman, B. I., Esko, T., Mägi, R., Milani, L., Mihailov, E., Metspalu, A., Narisu, N., Kinnunen, L., Bonnycastle, L. L., Swift, A., Pasko, D., Wood, A. R., Fadista, J., Pollin, T. I., Barzilai, N., Atzmon, G., Glaser, B., Thorand, B., Strauch, K., Peters, A., Roden, M., Müller-Nurasyid, M., Liang, L., Kriebel, J., Illig, T., Grallert, H., Gieger, C., Meisinger, C., Lannfelt, L., Musani, S. K., Griswold, M., Taylor, H. A., Wilson, G., Correa, A., Oksa, H., Scott, W. R., Afzal, U., Tan, S-T., Loh, M., Chambers, J. C., Sehmi, J., Kooner, J. S., Lehne, B., Cho, Y. S., Lee, J-Y., Han, B-G., Käräjämäki, A., Qi, Q., Qi, L., Huang, J., Hu, F. B., Melander, O., Orho-Melander, M., Below, J. E., Aguilar, D., Wong, T. Y., Liu, J., Khor, C-C., Chia, K. S., Lim, W. Y., Cheng, C-Y., Chan, E., Tai, E. S., Aung, T., Linneberg, A., Isomaa, B., Meitinger, T., Tuomi, T., Hakaste, L., Kravic, J., Jørgensen, M. E., Lauritzen, T., Deloukas, P., Stirrups, K. E., Owen, K. R., Farmer, A. J., Frayling, T. M., O'Rahilly, S. P., Walker, M., Levy, J. C., Hodgkiss, D., Hattersley, A. T., Kuulasmaa, T., Stančáková, A., Barroso, I., Bharadwaj, D., Chan, J., Chandak, G. R., Daly, M. J., Donnelly, P. J., Ebrahim, S. B., Elliott, P., Fingerlin, T., Froguel, P., Hu, C., Jia, W., Ma, R. C. W., McVean, G., Park, T., Prabhakaran, D., Sandhu, M., Scott, J., Sladek, R., Tandon, N., Teo, Y. Y., Zeggini, E., Watanabe, R. M., Koistinen, H. A., Kesaniemi, Y. A., Uusitupa, M., Spector, T. D., Salomaa, V., Rauramaa, R., Palmer, C. N. A., Prokopenko, I., Morris, A. D., Bergman, R. N., Collins, F. S., Lind, L., Ingelsson, E., Tuomilehto, J., Karpe, F., Groop, L., Jørgensen, T., Hansen, T., Pedersen, O., Kuusisto, J., Abecasis, G., Bell, G. I., Blangero, J., Cox, N. J., Duggirala, R., Seielstad, M., Wilson, J. G., Dupuis, J., Ripatti, S., Hanis, C. L., Florez, J. C., Mohlke, K. L., Meigs, J. B., Laakso, M., Morris, A. P., Boehnke, M., Altshuler, D., McCarthy, M. I., Gloyn, A. L. & Lindgren, C. M., Jul 2017, In : Diabetes. 66, 7, p. 2019-2032 14 p.

    Research output: Contribution to journalArticle

  42. Persistently Altered Metabolic Phenotype following Perinatal Excitotoxic Brain Injury

    Blaise, B. J., Schwendimann, L., Chhor, V., Degos, V., Hodson, M. P., Dallmann, G., Keller, M., Gressens, P. & Fleiss, B., Jul 2017, In : Developmental Neuroscience. 39, p. 182-191 10 p.

    Research output: Contribution to journalArticle

  43. Autoinflammatory keratinization diseases

    Akiyama, M., Takeichi, T., McGrath, J. A. & Sugiura, K., 28 Jun 2017, In : Journal of Allergy and Clinical Immunology. 3 p.

    Research output: Contribution to journalArticle

  44. 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. & 101 others, 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., de Haan, H. G., de Mutsert, R., Dedoussis, G., 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., Orrú, 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., 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 journalArticle

  45. PLACK syndrome resulting from a new homozygous insertion mutation in CAST

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C-K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J-P., 9 Jun 2017, In : Journal of Dermatological Science.

    Research output: Contribution to journalArticle

  46. Serum Lipid Levels and Risk of Hand Osteoarthritis: The Chingford Prospective Cohort Study

    Garcia-Gil, M., Reyes, C., Ramos, R., Sanchez-Santos, M. T., Prieto-Alhambra, D., Spector, T. D., Hart, D. J. & Arden, N. K., 9 Jun 2017, In : Scientific Reports. 7, 1, 3147.

    Research output: Contribution to journalArticle

  47. Dual requirements for WNT10A in proliferation and KLF4-mediated differentiation underlie ectodermal dysplasia

    Zu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., Levin, B., Mansfield, C., Douglas, J. E., Cowart, B. J., Tordoff, M., Liu, F., Zhu, X., Barlow, L. A. & 5 others, Rubin, A. I., McGrath, J. A., Morrisey, E. E., Chu, E. Y. & Millar, S. E., 7 Jun 2017, In : Nature Communications. 8

    Research output: Contribution to journalArticle

  48. A new clinical diagnostic matrix for epidermolysis bullosa

    McGrath, J. A., 5 Jun 2017, In : British Journal of Dermatology. 176, 6, p. 1442–1443 2 p.

    Research output: Contribution to journalArticle

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