American Journal of Human Genetics, 0002-9297

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  1. 2019
  2. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

    Mavaddat, N., Carolina Ellberg, Krüger, U., Håkan Olsson, Asta Försti, Easton, D. F. & et al., 2019, In : American Journal of Human Genetics. 104, 1, p. 21-34 14 p.

    Research output: Contribution to journalArticle

  3. 2018
  4. Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

    Martin, A. R., Karczewski, K. J., Kerminen, S., Kurki, M. I., Sarin, A-P., Artomov, M., Eriksson, J. G., Esko, T., Genovese, G., Havulinna, A. S., Kaprio, J., Konradi, A., Korányi, L., Kostareva, A., Männikkö, M., Metspalu, A., Perola, M., Prasad, R. B., Raitakari, O., Rotar, O. & 7 othersSalomaa, V., Leif Groop, Palotie, A., Neale, B. M., Ripatti, S., Pirinen, M. & Daly, M. J., 2018 May, In : American Journal of Human Genetics. 102, 5, p. 760-775 16 p.

    Research output: Contribution to journalArticle

  5. A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

    Sung, Y. J., Winkler, T. W., de las Fuentes, L., Bentley, A. R., Brown, M. R., Kraja, A. T., Schwander, K., Ntalla, I., Guo, X., Franceschini, N., Lu, Y., Cheng, C. Y., Sim, X., Vojinovic, D., Marten, J., Musani, S. K., Li, C., Feitosa, M. F., Kilpeläinen, T. O., Richard, M. A. & 34 othersNoordam, R., Aslibekyan, S., Aschard, H., Bartz, T. M., Dorajoo, R., Liu, Y., Manning, A. K., Rankinen, T., Smith, A. V., Tajuddin, S. M., Tayo, B. O., Warren, H. R., Zhao, W., Zhou, Y., Matoba, N., Sofer, T., Alver, M., Amini, M., Boissel, M., Chai, J. F., Chen, X., Divers, J., Gandin, I., Gao, C., Giulianini, F., Goel, A., Harris, S. E., Tibor V. Varga, Frida Renström, Paul W. Franks, The CHARGE Neurology Working Group, The COGENT-Kidney Consortium, The GIANT Consortium & Lifelines Cohort Study, 2018 Mar 1, In : American Journal of Human Genetics. 102, 3, p. 375-400 26 p.

    Research output: Contribution to journalArticle

  6. Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

    Medina-Gomez, C., Kemp, J. P., Trajanoska, K., Luan, J., Chesi, A., Ahluwalia, T. S., Mook-Kanamori, D. O., Ham, A., Hartwig, F. P., Evans, D. S., Joro, R., Nedeljkovic, I., Zheng, H. F., Zhu, K., Atalay, M., Liu, C. T., Nethander, M., Broer, L., Porleifsson, G., Mullin, B. H. & 69 othersHandelman, S. K., Nalls, M. A., Jessen, L. E., Heppe, D. H. M., Richards, J. B., Wang, C., Chawes, B., Schraut, K. E., Amin, N., Wareham, N., Karasik, D., Van der Velde, N., Ikram, M. A., Zemel, B. S., Zhou, Y., Carlsson, C. J., Liu, Y., Fiona E. McGuigan, Boer, C. G., Bønnelykke, K., Ralston, S. H., Robbins, J. A., Walsh, J. P., Zillikens, M. C., Langenberg, C., Li-Gao, R., Williams, F. M. K., Harris, T. B., Kristina Akesson, Jackson, R. D., Sigurdsson, G., den Heijer, M., van der Eerden, B. C. J., van de Peppel, J., Spector, T. D., Pennell, C., Horta, B. L., Felix, J. F., Zhao, J. H., Wilson, S. G., de Mutsert, R., Bisgaard, H., Styrkársdóttir, U., Jaddoe, V. W., Orwoll, E., Lakka, T. A., Scott, R., Grant, S. F. A., Lorentzon, M., van Duijn, C. M., Wilson, J. F., Stefansson, K., Psaty, B. M., Kiel, D. P., Ohlsson, C., Ntzani, E., van Wijnen, A. J., Forgetta, V., Ghanbari, M., Logan, J. G., Williams, G. R., Bassett, J. H. D., Croucher, P. I., Evangelou, E., Uitterlinden, A. G., Ackert-Bicknell, C. L., Tobias, J. H., Evans, D. M. & Rivadeneira, F., 2018 Jan 4, In : American Journal of Human Genetics. 102, 1, p. 88-102 15 p.

    Research output: Contribution to journalArticle

  7. Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

    Lifelines Cohort Study, CHARGE Inflammation Working Group, Ligthart, S., Magnus Karlsson & Alizadeh, B. Z., 2018, In : American Journal of Human Genetics. 103, 5, p. 691-706 16 p.

    Research output: Contribution to journalArticle

  8. 2017
  9. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

    Windpassinger, C., Piard, J., Bonnard, C., Alfadhel, M., Lim, S., Bisteau, X., Blouin, S., Ali, NA. B., Ng, A. Y. J., Lu, H., Tohari, S., Talib, S. Z. A., van Hul, N., Caldez, M. J., Van Maldergem, L., Yigit, G., Kayserili, H., Youssef, S. A., Coppola, V., de Bruin, A. & 17 othersTessarollo, L., Choi, H., Rupp, V., Roetzer, K., Roschger, P., Klaushofer, K., Altmüller, J., Roy, S., Venkatesh, B., Ganger, R., Grill, F., Ben Chehida, F., Wollnik, B., Altunoglu, U., Al Kaissi, A., Reversade, B. & Philipp Kaldis, 2017 Sep 7, In : American Journal of Human Genetics. 101, 3, p. 391-403 13 p.

    Research output: Contribution to journalArticle

  10. Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

    Manousaki, D., Dudding, T., Haworth, S., Hsu, Y-H., Liu, C-T., Medina-Gómez, C., Voortman, T., van der Velde, N., Melhus, H., Robinson-Cohen, C., Cousminer, D. L., Nethander, M., Vandenput, L., Noordam, R., Forgetta, V., Greenwood, C. M. T., Biggs, M. L., Psaty, B. M., Rotter, J. I., Zemel, B. S. & 33 othersMitchell, J. A., Taylor, B., Lorentzon, M., Magnus Karlsson, Jaddoe, V. W. V., Tiemeier, H., Campos-Obando, N., Franco, O. H., Utterlinden, A. G., Broer, L., van Schoor, N. M., Ham, A. C., Ikram, M. A., Karasik, D., De Mutsert, R., Rosendaal, F. R., den Heijer, M., Wang, T. J., Lind, L., Orwoll, E. S., Mook-Kanamori, D. O., Michaëlsson, K., Kestenbaum, B., Ohlsson, C., Mellström, D., de Groot, L. C. P. G. M., Grant, S. F. A., Kiel, D. P., Zillikens, M. C., Rivadeneira, F., Sawcer, S. J., Timpson, N. J. & Richards, J. B., 2017 Aug 3, In : American Journal of Human Genetics. 101, 2, p. 227-238 12 p.

    Research output: Contribution to journalArticle

  11. 2016
  12. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

    Nikopoulos, K., Farinelli, P., Giangreco, B., Tsika, C., Royer-Bertrand, B., Mbefo, M. K., Bedoni, N., Kjellström, U., El Zaoui, I., Di Gioia, S. A., Balzano, S., Cisarova, K., Messina, A., Decembrini, S., Plainis, S., Blazaki, S. V., Khan, M. I., Micheal, S., Boldt, K., Ueffing, M. & 7 othersMoulin, A. P., Cremers, F. P. M., Roepman, R., Arsenijevic, Y., Tsilimbaris, M. K., Sten Andréasson & Rivolta, C., 2016 Sep 1, In : American Journal of Human Genetics. 99, 3, p. 770-776 7 p.

    Research output: Contribution to journalArticle

  13. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

    Chami, N., Chen, M. H., Slater, A. J., Eicher, J. D., Evangelou, E., Tajuddin, S. M., Love-Gregory, L., Kacprowski, T., Schick, U. M., Nomura, A., Giri, A., Lessard, S., Brody, J. A., Schurmann, C., Pankratz, N., Yanek, L. R., Manichaikul, A., Pazoki, R., Mihailov, E., Hill, W. D. & 93 othersRaffield, L. M., Burt, A., Bartz, T. M., Becker, D. M., Becker, L. C., Boerwinkle, E., Bork-Jensen, J., Bottinger, E. P., O'Donoghue, M. L., Crosslin, D. R., de Denus, S., Dubé, M. P., Elliott, P., Gunnar Engström, Evans, M. K., Floyd, J. S., Fornage, M., Gao, H., Greinacher, A., Gudnason, V., Hansen, T., Harris, T. B., Hayward, C., Hernesniemi, J., Highland, H. M., Hirschhorn, J. N., Hofman, A., Irvin, M. R., Kähönen, M., Lange, E., Launer, L. J., Lehtimäki, T., Li, J., Liewald, D. C. M., Linneberg, A., Liu, Y., Lu, Y., Lyytikäinen, L. P., Mägi, R., Mathias, R. A., Olle Melander, Metspalu, A., Mononen, N., Nalls, M. A., Nickerson, D. A., Nikus, K., O'Donnell, C. J., Marju Orho-Melander, Pedersen, O., Petersmann, A., Polfus, L., Psaty, B. M., Raitakari, O. T., Raitoharju, E., Richard, M., Rice, K. M., Rivadeneira, F., Rotter, J. I., Schmidt, F., Smith, A. V., Starr, J. M., Taylor, K. D., Teumer, A., Thuesen, B. H., Torstenson, E. S., Tracy, R. P., Tzoulaki, I., Zakai, N. A., Vacchi-Suzzi, C., van Duijn, C. M., van Rooij, F. J. A., Cushman, M., Deary, I. J., Velez Edwards, D. R., Vergnaud, A. C., Wallentin, L., Waterworth, D. M., White, H. D., Wilson, J. G., Zonderman, A. B., Kathiresan, S., Grarup, N., Esko, T., Loos, R. J. F., Lange, L. A., Faraday, N., Abumrad, N. A., Edwards, T. L., Ganesh, S. K., Auer, P. L., Johnson, A. D., Reiner, A. P. & Lettre, G., 2016 Jul 7, In : American Journal of Human Genetics. 99, 1, p. 8-21 14 p.

    Research output: Contribution to journalArticle

  14. 2014
  15. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland

    GoT2D Consortium, Wang, S. R., Agarwala, V., Flannick, J., Chiang, C. W. K., Altshuler, D., Hirschhorn, J. N. & Jasmina Kravic, 2014 May 1, In : American Journal of Human Genetics. 94, 5, p. 710-20 11 p.

    Research output: Contribution to journalArticle

  16. A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity

    Lim, E. T., Liu, Y. P., Chan, Y., Tuomi, T., Karajamaki, A., Madsen, E., Altshuler, D. M., Raychaudhuri, S., Leif Groop, Fannick, J., Hirschhorn, J. N., Katsanis, N. & Daly, M., 2014, In : American Journal of Human Genetics. 95, 5, p. 509-520

    Research output: Contribution to journalArticle

  17. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

    Peloso, G. M., Auer, P. L., Bis, J. C., Voorman, A., Morrison, A. C., Stitziel, N. O., Brody, J. A., Khetarpal, S. A., Crosby, J. R., Fornage, M., Isaacs, A., Jakobsdottir, J., Feitosa, M. F., Davies, G., Huffman, J. E., Manichaikul, A., Davis, B., Lohman, K., Joon, A. Y., Smith, A. V. & 79 othersGrove, M. L., Zanoni, P., Redon, V., Demissie, S., Lawson, K., Peters, U., Carlson, C., Jackson, R. D., Ryckman, K. K., Mackey, R. H., Robinson, J. G., Siscovick, D. S., Schreiner, P. J., Mychaleckyj, J. C., Pankow, J. S., Hofman, A., Uitterlinden, A. G., Harris, T. B., Taylor, K. D., Stafford, J. M., Reynolds, L. M., Marioni, R. E., Dehghan, A., Franco, O. H., Patel, A. P., Lu, Y., George Hindy, Gottesman, O., Bottinger, E. P., Olle Melander, Marju Orho-Melander, Loos, R. J. F., Duga, S., Merlini, P. A., Farrall, M., Goel, A., Asselta, R., Girelli, D., Martinelli, N., Shah, S. H., Kraus, W. E., Li, M., Rader, D. J., Reilly, M. P., McPherson, R., Watkins, H., Ardissino, D., Zhang, Q., Wang, J., Tsai, M. Y., Taylor, H. A., Correa, A., Griswold, M. E., Lange, L. A., Starr, J. M., Rudan, I., Eiriksdottir, G., Launer, L. J., Ordovas, J. M., Levy, D., Chen, Y-D. I., Reiner, A. P., Hayward, C., Polasek, O., Deary, I. J., Borecki, I. B., Liu, Y., Gudnason, V., Wilson, J. G., van Duijn, C. M., Kooperberg, C., Rich, S. S., Psaty, B. M., Rotter, J. I., O'Donnell, C. J., Rice, K., Boerwinkle, E., Kathiresan, S. & Cupples, L. A., 2014, In : American Journal of Human Genetics. 94, 2, p. 223-232

    Research output: Contribution to journalArticle

  18. Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.

    Tragante, V., Barnes, M. R., Ganesh, S. K., Lanktree, M. B., Guo, W., Franceschini, N., Smith, E. N., Johnson, T., Holmes, M. V., Padmanabhan, S., Karczewski, K. J., Almoguera, B., Barnard, J., Baumert, J., Chang, Y-P. C., Elbers, C. C., Farrall, M., Fischer, M. E., Gaunt, T. R., Gho, J. M. I. H. & 116 othersGieger, C., Goel, A., Gong, Y., Isaacs, A., Kleber, M. E., Leach, I. M., McDonough, C. W., Meijs, M. F. L., Olle Melander, Nelson, C. P., Nolte, I. M., Pankratz, N., Price, T. S., Shaffer, J., Shah, S., Tomaszewski, M., van der Most, P. J., Van Iperen, E. P. A., Vonk, J. M., Witkowska, K., Wong, C. O. L., Zhang, L., Beitelshees, A. L., Berenson, G. S., Bhatt, D. L., Brown, M., Burt, A., Cooper-Dehoff, R. M., Connell, J. M., Cruickshanks, K. J., Curtis, S. P., Davey-Smith, G., Delles, C., Gansevoort, R. T., Guo, X., Haiqing, S., Hastie, C. E., Hofker, M. H., Hovingh, G. K., Kim, D. S., Kirkland, S. A., Klein, B. E., Klein, R., Li, Y. R., Maiwald, S., Newton-Cheh, C., O'Brien, E. T., Onland-Moret, N. C., Palmas, W., Parsa, A., Penninx, B. W., Pettinger, M., Vasan, R. S., Ranchalis, J. E., M Ridker, P., Rose, L. M., Sever, P., Shimbo, D., Steele, L., Stolk, R. P., Thorand, B., Trip, M. D., van Duijn, C. M., Verschuren, W. M., Wijmenga, C., Wyatt, S., Young, J. H., Zwinderman, A. H., Bezzina, C. R., Boerwinkle, E., Casas, J. P., Caulfield, M. J., Chakravarti, A., Chasman, D. I., Davidson, K. W., Doevendans, P. A., Dominiczak, A. F., Fitzgerald, G. A., Gums, J. G., Fornage, M., Hakonarson, H., Halder, I., Hillege, H. L., Illig, T., Jarvik, G. P., Johnson, J. A., Kastelein, J. J. P., Koenig, W., Kumari, M., März, W., Murray, S. S., O'Connell, J. R., Oldehinkel, A. J., Pankow, J. S., Rader, D. J., Redline, S., Reilly, M. P., Schadt, E. E., Kottke-Marchant, K., Snieder, H., Snyder, M., Stanton, A. V., Tobin, M. D., Uitterlinden, A. G., van der Harst, P., van der Schouw, Y. T., Samani, N. J., Watkins, H., Johnson, A. D., Reiner, A. P., Zhu, X., de Bakker, P. I. W., Levy, D., Asselbergs, F. W., Munroe, P. B. & Keating, B. J., 2014, In : American Journal of Human Genetics. 94, 3, p. 349-360

    Research output: Contribution to journalArticle

  19. Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.

    Skibola, C. F., Berndt, S. I., Vijai, J., Conde, L., Wang, Z., Yeager, M., de Bakker, P. I. W., Birmann, B. M., Vajdic, C. M., Foo, J-N., Bracci, P. M., Vermeulen, R. C. H., Slager, S. L., de Sanjose, S., Wang, S. S., Linet, M. S., Salles, G., Lan, Q., Severi, G., Hjalgrim, H. & 92 othersLightfoot, T., Melbye, M., Gu, J., Ghesquières, H., Link, B. K., Morton, L. M., Holly, E. A., Smith, A., Tinker, L. F., Teras, L. R., Kricker, A., Becker, N., Purdue, M. P., Spinelli, J. J., Zhang, Y., Giles, G. G., Vineis, P., Monnereau, A., Bertrand, K. A., Albanes, D., Zeleniuch-Jacquotte, A., Gabbas, A., Chung, C. C., Burdett, L., Hutchinson, A., Lawrence, C., Montalvan, R., Liang, L., Huang, J., Ma, B., Liu, J., Adami, H-O., Glimelius, B., Ye, Y., Nowakowski, G. S., Dogan, A., Thompson, C. A., Habermann, T. M., Novak, A. J., Liebow, M., Witzig, T. E., Weiner, G. J., Schenk, M., Hartge, P., De Roos, A. J., Cozen, W., Zhi, D., Akers, N. K., Riby, J., Smith, M. T., Lacher, M., Villano, D. J., Maria, A., Roman, E., Kane, E., Jackson, R. D., North, K. E., Diver, W. R., Turner, J., Armstrong, B. K., Benavente, Y., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Staines, A., McKay, J., Brooks-Wilson, A. R., Zheng, T., Holford, T. R., Chamosa, S., Kaaks, R., Kelly, R. S., Bodil Ohlsson, Travis, R. C., Weiderpass, E., Clavel, J., Giovannucci, E., Kraft, P., Virtamo, J., Mazza, P., Cocco, P., Ennas, M. G., Chiu, B. C. H., Fraumeni, J. F., Nieters, A., Offit, K., Wu, X., Cerhan, J. R., Smedby, K. E., Chanock, S. J. & Rothman, N., 2014, In : American Journal of Human Genetics. 95, 4, p. 462-471

    Research output: Contribution to journalArticle

  20. Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.

    Mayes, M. D., Bossini-Castillo, L., Gorlova, O., Martin, J. E., Zhou, X., Chen, W. V., Assassi, S., Ying, J., Tan, F. K., Arnett, F. C., Reveille, J. D., Guerra, S., Teruel, M., Carmona, F. D., Gregersen, P. K., Lee, A. T., López-Isac, E., Ochoa, E., Carreira, P., Simeón, C. P. & 55 othersCastellví, I., González-Gay, M. Á., Zhernakova, A., Padyukov, L., Alarcón-Riquelme, M., Wijmenga, C., Brown, M., Beretta, L., Riemekasten, G., Witte, T., Hunzelmann, N., Kreuter, A., Distler, J. H. W., Voskuyl, A. E., Schuerwegh, A. J., Roger Hesselstrand, Nordin, A., Airó, P., Lunardi, C., Shiels, P., van Laar, J. M., Herrick, A., Worthington, J., Denton, C., Wigley, F. M., Hummers, L. K., Varga, J., Hinchcliff, M. E., Baron, M., Hudson, M., Pope, J. E., Furst, D. E., Khanna, D., Phillips, K., Schiopu, E., Segal, B. M., Molitor, J. A., Silver, R. M., Steen, V. D., Simms, R. W., Lafyatis, R. A., Fessler, B. J., Frech, T. M., Alkassab, F., Docherty, P., Kaminska, E., Khalidi, N., Jones, H. N., Markland, J., Robinson, D., Broen, J., Radstake, T. R. D. J., Fonseca, C., Koeleman, B. P. & Martin, J., 2014, In : American Journal of Human Genetics. 94, 1, p. 47-61

    Research output: Contribution to journalArticle

  21. Meta-Analysis of Genome-Wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage.

    Woo, D., Falcone, G. J., Devan, W. J., Brown, W. M., Biffi, A., Howard, T. D., Anderson, C. D., Brouwers, H. B., Valant, V., Battey, T. W. K., Radmanesh, F., Raffeld, M. R., Baedorf-Kassis, S., Deka, R., Woo, J. G., Martin, L. J., Haverbusch, M., Moomaw, C. J., Sun, G., Broderick, J. P. & 47 othersFlaherty, M. L., Martini, S. R., Kleindorfer, D. O., Kissela, B., Comeau, M. E., Jagiella, J. M., Schmidt, H., Freudenberger, P., Pichler, A., Enzinger, C., Björn Hansen, Bo Norrving, Jimenez-Conde, J., Giralt-Steinhauer, E., Elosua, R., Cuadrado-Godia, E., Soriano, C., Roquer, J., Kraft, P., Ayres, A. M., Schwab, K., McCauley, J. L., Pera, J., Urbanik, A., Rost, N. S., Goldstein, J. N., Viswanathan, A., Stögerer, E-M., Tirschwell, D. L., Selim, M., Brown, D. L., Silliman, S. L., Worrall, B. B., Meschia, J. F., Kidwell, C. S., Montaner, J., Fernandez-Cadenas, I., Delgado, P., Malik, R., Dichgans, M., Greenberg, S. M., Rothwell, P. M., Arne Lindgren, Slowik, A., Schmidt, R., Langefeld, C. D. & Rosand, J., 2014, In : American Journal of Human Genetics. 94, 4, p. 511-521

    Research output: Contribution to journalArticle

  22. Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.

    Lange, L. A., Hu, Y., Zhang, H., Xue, C., Schmidt, E. M., Tang, Z-Z., Bizon, C., Lange, E. M., Smith, J. D., Turner, E. H., Jun, G., Kang, H. M., Peloso, G., Auer, P., Li, K-P., Flannick, J., Zhang, J., Fuchsberger, C., Gaulton, K., Lindgren, C. & 82 othersLocke, A., Manning, A., Sim, X., Rivas, M. A., Holmen, O. L., Gottesman, O., Lu, Y., Ruderfer, D., Stahl, E. A., Duan, Q., Li, Y., Durda, P., Jiao, S., Isaacs, A., Hofman, A., Bis, J. C., Correa, A., Griswold, M. E., Jakobsdottir, J., Smith, A. V., Schreiner, P. J., Feitosa, M. F., Zhang, Q., Huffman, J. E., Crosby, J., Wassel, C. L., Do, R., Franceschini, N., Martin, L. W., Robinson, J. G., Assimes, T. L., Crosslin, D. R., Rosenthal, E. A., Tsai, M., Rieder, M. J., Farlow, D. N., Folsom, A. R., Lumley, T., Fox, E. R., Carlson, C. S., Peters, U., Jackson, R. D., van Duijn, C. M., Uitterlinden, A. G., Levy, D., Rotter, J. I., Taylor, H. A., Gudnason, V., Siscovick, D. S., Fornage, M., Borecki, I. B., Hayward, C., Rudan, I., Chen, Y. E., Bottinger, E. P., Loos, R. J. F., Sætrom, P., Hveem, K., Boehnke, M., Leif Groop, McCarthy, M., Meitinger, T., Ballantyne, C. M., Gabriel, S. B., O'Donnell, C. J., Post, W. S., North, K. E., Reiner, A. P., Boerwinkle, E., Psaty, B. M., Altshuler, D., Kathiresan, S., Lin, D-Y., Jarvik, G. P., Cupples, L. A., Kooperberg, C., Wilson, J. G., Nickerson, D. A., Abecasis, G. R., Rich, S. S., Tracy, R. P. & Willer, C. J., 2014, In : American Journal of Human Genetics. 94, 2, p. 233-245

    Research output: Contribution to journalArticle

  23. 2013
  24. Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

    Meyer, K. B., O'Reilly, M., Michailidou, K., Carlebur, S., Edwards, S. L., French, J. D., Prathalingham, R., Dennis, J., Bolla, M. K., Wang, Q., de Santiago, I., Hopper, J. L., Tsimiklis, H., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Van't Veer, L. J., Hogervorst, F. B., Muir, K. & 180 othersLophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Lux, M. P., Ekici, A. B., Beckmann, M. W., Peto, J., Silva, I. D. S., Fletcher, O., Johnson, N., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Pilar Zamora, M., Arias, J. I., Benitez, J., Neuhausen, S., Anton-Culver, H., Ziogas, A., Dur, C. C., Brenner, H., Mueller, H., Arndt, V., Stegmaier, C., Meindl, A., Schmutzler, R. K., Engel, C., Ditsch, N., Brauch, H., Bruening, T., Ko, Y-D., Nevanlinna, H., Muranen, T. A., Aittomaeki, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Yatabe, Y., Doerk, T., Helbig, S., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J. M., Chenevix-Trench, G., Wu, A. H., Tseng, C., Van Den Berg, D., Stram, D. O., Lambrechts, D., Thienpont, B., Christiaens, M-R., Smeets, A., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Bonanni, B., Bernard, L., Couch, F. J., Olson, J. E., Wang, X., Purrington, K., Giles, G. G., Severi, G., Baglietto, L., McLean, C., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Simard, J., Goldberg, M. S., Labreche, F., Dumont, M., Teo, S-H., Yip, C-H., Phuah, S-Y., Kristensen, V., Alnaes, G. G., Borresen-Dale, A-L., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J., Winqvist, R., Pylkaes, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C. M., Garcia-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Darabi, H., Eriksson, K., Hooning, M. J., Martens, J. W. M., van den Ouweland, A. M. W., van Deurzen, C. H. M., Hall, P., Li, J., Liu, J., Humphreys, K., Shu, X-O., Lu, W., Gao, Y-T., Cai, H., Cox, A., Reed, M. W. R., Blot, W., Signorello, L. B., Cai, Q., Pharoah, P. D. P., Ghoussaini, M., Harrington, P., Tyrer, J., Kang, D., Choi, J-Y., Park, S. K., Noh, D-Y., Hartman, M., Hui, M., Lim, W-Y., Buhari, S. A., Hamann, U., Asta Försti, Ruediger, T., Ulmer, H-U., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Vachon, C., Slager, S., Fostira, F., Pilarski, R., Shen, C-Y., Hsiung, C-N., Wu, P-E., Hou, M-F., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., Ponder, B. A. J., Dunning, A. M. & Easton, D. F., 2013, In : American Journal of Human Genetics. 93, 6, p. 1046-1060

    Research output: Contribution to journalArticle

  25. 2012
  26. Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

    Asselbergs, F. W., Guo, Y., van Iperen, E. P. A., Sivapalaratnam, S., Tragante, V., Lanktree, M. B., Lange, L. A., Almoguera, B., Appelman, Y. E., Barnard, J., Baumert, J., Beitelshees, A. L., Bhangale, T. R., Chen, Y-D. I., Gaunt, T. R., Gong, Y., Hopewell, J. C., Johnson, T., Kleber, M. E., Langaee, T. Y. & 150 othersLi, M., Li, Y. R., Liu, K., McDonough, C. W., Meijs, M. E., Middelberg, R. P. S., Musunuru, K., Nelson, C. P., O'Connell, J. R., Padmanabhan, S., Pankow, J. S., Pankratz, N., Rafelt, S., Rajagopalan, R., Romaine, S. P. R., Schork, N. J., Shaffer, J., Shen, H., Smith, E. N., Tischfield, S. E., van der Most, P. J., van Vliet-Ostaptchouk, J. V., Verweij, N., Volcik, K. A., Zhang, L., Bailey, K. R., Bailey, K. M., Bauer, F., Boer, J. M. A., Braund, P. S., Burt, A., Burton, P. R., Buxbaum, S. G., Chen, W., Cooper-DeHoff, R. M., Cupples, L. A., deJong, J. S., Delles, C., Duggan, D., Fornage, M., Furlong, C. E., Glazer, N., Gums, J. G., Hastie, C., Holmes, M. V., Illig, T., Kirkland, S. A., Kivimaki, M., Klein, R., Klein, B. E., Kooperberg, C., Kottke-Marchant, K., Kumari, M., LaCroix, A. Z., Mallela, L., Murugesan, G., Ordovas, J., Ouwehand, W. H., Post, W. S., Saxena, R., Scharnagl, H., Schreiner, P. J., Shah, T., Shields, D. C., Shimbo, D., Srinivasan, S. R., Stolk, R. P., Swerdlow, D. I., Taylor Jr, H. A., Topo, E. J., Toskala, E., van Pelt, J. L., van Setten, J., Yusuf, S., Whittaker, J. C., Zwinderman, A. H., Anand, S. S., Balmforth, A. J., Berenson, G. S., Bezzina, C. R., Boehm, B. O., Boerwinkle, E., Casas, J. P., Caulfield, M. J., Clarke, R., Connell, J. M., Cruickshanks, K. J., Davidson, K. W., Day, I. N. M., de Bakker, P. I. W., Doevendans, P. A., Dominiczak, A. E., Hall, A. S., Hartman, C. A., Hengstenberg, C., Hillege, H. L., Hofker, M. H., Humphries, S. E., Jarvik, G. P., Johnson, J. A., Kaess, B. M., Kathiresan, S., Koenig, W., Lawlor, D. A., Maerz, W., Olle Melander, Mitchell, B. D., Montgomery, G. W., Munroe, P. B., Murray, S. S., Newhouse, S. J., Onland-Moret, N. C., Poulter, N., Psaty, B., Redline, S., Rich, S. S., Rotter, J. I., Schunkert, H., Sever, P., Shuldiner, A. R., Silverstein, R. L., Stanton, A., Thorand, B., Trip, M. D., Tsai, M. Y., van der Harst, P., van der Schoot, E., van der Schouw, Y. T., Verschuren, W. M. M., Watkins, H., Wilde, A. A. M., Wolffenbuttel, B. H. R., Whitfield, J. B., Hovingh, G. K., Ballantyne, C. M., Wijmenga, C., Reilly, M. P., Martin, N. G., Wilson, J. G., Rader, D. J., Samani, N. J., Reiner, A. P., Hegele, R. A., Kastelein, J. J. P., Hingorani, A. D., Talmud, P. J., Hakonarson, H., Elbers, C. C., Keating, B. J. & Drenos, F., 2012, In : American Journal of Human Genetics. 91, 5, p. 823-838

    Research output: Contribution to journalArticle

  27. Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

    Saxena, R., Elbers, C. C., Guo, Y., Peter, I., Gaunt, T. R., Mega, J. L., Lanktree, M. B., Tare, A., Almoguera Castillo, B., Li, Y. R., Johnson, T., Bruinenberg, M., Gilbert-Diamond, D., Rajagopalan, R., Voight, B. F., Balasubramanyam, A., Barnard, J., Bauer, F., Baumert, J., Bhangale, T. & 135 othersBoehm, B. O., Braund, P. S., Burton, P. R., Chandrupatla, H. R., Clarke, R., Cooper-DeHoff, R. M., Crook, E. D., Davey-Smith, G., Day, I. N., de Boer, A., de Groot, M. C. H., Drenos, F., Ferguson, J., Fox, C. S., Furlong, C. E., Gibson, Q., Gieger, C., Gilhuijs-Pederson, L. A., Glessner, J. T., Goel, A., Gong, Y., Grant, S. F. A., Grobbee, D. E., Hastie, C., Humphries, S. E., Kim, C. E., Kivimaki, M., Kleber, M., Meisinger, C., Kumari, M., Langaee, T. Y., Lawlor, D. A., Li, M., Lobmeyer, M. T., Maitland-van der Zee, A-H., Meijs, M. F. L., Molony, C. M., Morrow, D. A., Murugesan, G., Musani, S. K., Nelson, C. P., Newhouse, S. J., O'Connell, J. R., Padmanabhan, S., Palmen, J., Patel, S. R., Pepine, C. J., Pettinger, M., Price, T. S., Rafelt, S., Ranchalis, J., Rasheed, A., Rosenthal, E., Ruczinski, I., Shah, S., Shen, H., Silbernagel, G., Smith, E. N., Spijkerman, A. W. M., Stanton, A., Steffes, M. W., Thorand, B., Trip, M., van der Harst, P., van der A, D. L., van Iperen, E. P. A., van Setten, J., van Vliet-Ostaptchouk, J. V., Verweij, N., Wolffenbuttel, B. H. R., Young, T., Zafarmand, M. H., Zmuda, J. M., Boehnke, M., Altshuler, D., McCarthy, M., Kao, W. H. L., Pankow, J. S., Cappola, T. P., Sever, P., Poulter, N., Caulfield, M., Dominiczak, A., Shields, D. C., Bhatt, D. L., Zhang, L., Curtis, S. P., Danesh, J., Casas, J. P., van der Schouw, Y. T., Onland-Moret, N. C., Doevendans, P. A., Dorn II, G. W., Farrall, M., FitzGerald, G. A., Hamsten, A., Hegele, R., Hingorani, A. D., Hofker, M. H., Huggins, G. S., Illig, T., Jarvik, G. P., Johnson, J. A., Klungel, O. H., Knowler, W. C., Koenig, W., Maerz, W., Meigs, J. B., Olle Melander, Munroe, P. B., Mitchell, B. D., Bielinski, S. J., Rader, D. J., Reilly, M. P., Rich, S. S., Rotter, J. I., Saleheen, D., Samani, N. J., Schadt, E. E., Shuldiner, A. R., Silverstein, R., Kottke-Marchant, K., Talmud, P. J., Watkins, H., Asselbergs, F. W., de Bakker, P. I. W., McCaffery, J., Wijmenga, C., Sabatine, M. S., Wilson, J. G., Reiner, A., Bowden, D. W., Hakonarson, H., Siscovick, D. S. & Keating, B. J., 2012, In : American Journal of Human Genetics. 90, 3, p. 410-425

    Research output: Contribution to journalArticle

  28. Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

    Nyegaard, M., Overgaard, M. T., Sendergaard, M. T., Vranas, M., Behr, E. R., Hildebrandt, L. L., Lund, J., Hedley, P. L., Camm, A. J., Wettrell, G. GWE., Fosdal, I., Christiansen, M. & Borglum, A. D., 2012, In : American Journal of Human Genetics. 91, 4, p. 703-712

    Research output: Contribution to journalArticle

  29. SHANK1 Deletions in Males with Autism Spectrum Disorder

    Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., O'Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., Michaud, J. L., Endris, V., Roeth, R., Delorme, R., Huguet, G., Leboyer, M., Råstam, M., Gillberg, C., Lathrop, M., Stavropoulos, D. J. & 11 othersAnagnostou, E., Weksberg, R., Fombonne, E., Zwaigenbaum, L., Fernandez, B. A., Roberts, W., Rappold, G. A., Marshall, C. R., Bourgeron, T., Szatmari, P. & Scherer, S. W., 2012, In : American Journal of Human Genetics. 90, 5, p. 879-887

    Research output: Contribution to journalArticle

  30. 2011
  31. Blood Pressure Loci Identified with a Gene-Centric Array

    Johnson, T., Gaunt, T. R., Newhouse, S. J., Padmanabhan, S., Tomaszewski, M., Kumari, M., Morris, R. W., Tzoulaki, I., O'Brien, E. T., Poulter, N. R., Sever, P., Shields, D. C., Thom, S., Wannamethee, S. G., Whincup, P. H., Brown, M. J., Connell, J. M., Dobson, R. J., Howard, P. J., Mein, C. A. & 84 othersOnipinla, A., Shaw-Hawkins, S., Zhang, Y., Smith, G. D., Day, I. N. M., Lawlor, D. A., Goodall, A. H., Fowkes, F. G., Abecasis, G. R., Elliott, P., Gateva, V., Braund, P. S., Burton, P. R., Nelson, C. P., Tobin, M. D., van der Harst, P., Glorioso, N., Neuvrith, H., Salvi, E., Staessen, J. A., Stucchi, A., Devos, N., Jeunemaitre, X., Plouin, P-F., Tichet, J., Juhanson, P., Org, E., Putku, M., Sober, S., Veldre, G., Viigimaa, M., Levinsson, A., Rosengren, A., Thelle, D. S., Hastie, C. E., Hedner, T., Lee, W. K., Olle Melander, Wahlstrand, B., Hardy, R., Wong, A., Cooper, J. A., Palmen, J., Chen, L., Stewart, A. F. R., Wells, G. A., Westra, H-J., Wolfs, M. G. M., Clarke, R., Franzosi, M. G., Goel, A., Hamsten, A., Lathrop, M., Peden, J. F., Seedorf, U., Watkins, H., Ouwehand, W. H., Sambrook, J., Stephens, J., Casas, J-P., Drenos, F., Holmes, M. V., Kivimaki, M., Shah, S., Shah, T., Talmud, P. J., Whittaker, J., Wallace, C., Delles, C., Laan, M., Kuh, D., Humphries, S. E., Nyberg, F., Cusi, D., Roberts, R., Newton-Cheh, C., Franke, L., Stanton, A. V., Dominiczak, A. F., Farrall, M., Hingorani, A. D., Samani, N. J., Caulfield, M. J. & Munroe, P. B., 2011, In : American Journal of Human Genetics. 89, 6, p. 688-700

    Research output: Contribution to journalArticle

  32. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

    Lanktree, M. B., Guo, Y., Murtaza, M., Glessner, J. T., Bailey, S. D., Onland-Moret, N. C., Lettre, G., Ongen, H., Rajagopalan, R., Johnson, T., Shen, H., Nelson, C. P., Klopp, N., Baumert, J., Padmanabhan, S., Pankratz, N., Pankow, J. S., Shah, S., Taylor, K., Barnard, J. & 175 othersPeters, B. J., Maloney, C. M., Lobmeyer, M. T., Stanton, A., Zafarmand, M. H., Romaine, S. P. R., Mehta, A., van Iperen, E. P. A., Gong, Y., Price, T. S., Smith, E. N., Kim, C. E., Li, Y. R., Asselbergs, F. W., Atwood, L. D., Bailey, K. M., Bhatt, D., Bauer, F., Behr, E. R., Bhangale, T., Boer, J. M. A., Boehm, B. O., Bradfield, J. P., Brown, M., Braund, P. S., Burton, P. R., Carty, C., Chandrupatla, H. R., Chen, W., Connell, J., Dalgeorgou, C., de Boer, A., Drenos, F., Elbers, C. C., Fang, J. C., Fox, C. S., Frackelton, E. C., Fuchs, B., Furlong, C. E., Gibson, Q., Gieger, C., Goe, A., Grobbee, D. E., Hastie, C., Howard, P. J., Huang, G-H., Johnson, W. C., Li, Q., Kleber, M. E., Klein, B. E. K., Klein, R., Kooperberg, C., Ky, B., LaCroix, A., Lanken, P., Lathrop, M., Li, M., Marshal, V., Olle Melander, Mentch, F. D., Meyer, N. J., Monda, K. L., Montpetit, A., Murugesan, G., Nakayama, K., Nondah, D., Onipinla, A., Rafelt, S., Newhouse, S. J., Otieno, F. G., Patel, S. R., Putt, M. E., Rodriguez, S., Safa, R. N., Sawyer, D. B., Schreiner, P. J., Simpson, C., Sivapalaratnam, S., Srinivasan, S. R., Suver, C., Swergold, G., Sweitzer, N. K., Thomas, K. A., Thorand, B., Timpson, N. J., Tischfield, S., Tobin, M., Tomaszweski, M., Verschuren, W. M. M., Wallace, C., Winkelmann, B., Zhang, H., Zheng, D., Zhang, L., Zmuda, J. M., Clarke, R., Balmforth, A. J., Danesh, J., Day, I. N., Schork, N. J., de Bakker, P. I. W., Delles, C., Duggan, D., Hingorani, A. D., Hirschhorn, J. N., Hofker, M. H., Humphries, S. E., Kivimaki, M., Lawlor, D. A., Kottke-Marchant, K., Mega, J. L., Mitchell, B. D., Morrow, D. A., Palmen, J., Redline, S., Shields, D. C., Shuldiner, A. R., Sleiman, P. M., Smith, G. D., Farrall, M., Jamshidi, Y., Christiani, D. C., Casas, J. P., Hall, A. S., Doevendans, P. A., Christie, J. D., Berenson, G. S., Murray, S. S., Illig, T., Dorn, G. W. . II., Cappola, T. P., Boerwinkle, E., Sever, P., Rader, D. J., Reilly, M. P., Caulfield, M., Talmud, P. J., Topol, E., Engert, J. C., Wang, K., Dominiczak, A., Hamsten, A., Curtis, S. P., Silverstein, R. L., Lange, L. A., Sabatine, M. S., Trip, M., Saleheen, D., Peden, J. F., Cruickshanks, K. J., Maerz, W., O'Connell, J. R., Klungel, O. H., Wijmenga, C., Maitland-van der Zee, A. H., Schadt, E. E., Johnson, J. A., Jarvik, G. P., Papanicolaou, G. J., Watkins, H., Grant, S. F. A., Munroe, P. B., North, K. E., Samani, N. J., Koenig, W., Gaunt, T. R., Anand, S. S., van der Schouw, Y. T., Kumari, M., Soranzo, N., FitzGerald, G. A., Reiner, A., Hegele, R. A., Hakonarson, H. & Keating, B. J., 2011, In : American Journal of Human Genetics. 88, 1, p. 41443

    Research output: Contribution to journalArticle

  33. VPS35 Mutations in Parkinson Disease

    Vilarino-Gueell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., Hentati, E., Puschmann, A., Evans, D. M., Conibear, E., Wasserman, W. W., Aasly, J. O., Burkhard, P. R., Djaldetti, R. & 13 othersGhika, J., Hentati, F., Krygowska-Wajs, A., Lynch, T., Melamed, E., Rajput, A., Rajput, A. H., Solida, A., Wu, R-M., Uitti, R. J., Wszolek, Z. K., Vingerhoets, F. & Farrer, M. J., 2011, In : American Journal of Human Genetics. 89, 1, p. 162-167

    Research output: Contribution to journalArticle

  34. 2010
  35. A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

    Stattin, E-L., Wiklund, F., Lindblom, K., Patrik Önnerfjord, Jonsson, B-A., Tegner, Y., Sasaki, T., André Struglics, Stefan Lohmander, Dahl, N., Heinegård, D. & Aspberg, A., 2010, In : American Journal of Human Genetics. 86, 2, p. 126-137

    Research output: Contribution to journalArticle

  36. 2009
  37. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

    Steinfeld, R., Grapp, M., Kraetzner, R., Dreha-Kulaczewski, S., Gunther Helms, Dechent, P., Wevers, R., Grosso, S. & Gaertner, J., 2009, In : American Journal of Human Genetics. 85, 3, p. 354-363

    Research output: Contribution to journalArticle

  38. Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

    Talmud, P. J., Drenos, F., Shah, S., Shah, T., Palmen, J., Verzilli, C., Gaunt, T. R., Pallas, J., Lovering, R., Li, K., Casas, J. P., Sofat, R., Kumari, M., Rodriguez, S., Johnson, T., Newhouse, S. J., Dominiczak, A., Samani, N. J., Caulfield, M., Sever, P. & 16 othersStanton, A., Shields, D. C., Padmanabhan, S., Olle Melander, Hastie, C., Delles, C., Ebrahim, S., Marmot, M. G., Smith, G. D., Lawlor, D. A., Munroe, P. B., Day, I. N., Kivimaki, M., Whittaker, J., Humphries, S. E. & Hingorani, A. D., 2009, In : American Journal of Human Genetics. 85, 5, p. 628-642

    Research output: Contribution to journalArticle

  39. Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

    Friedman, J. S., Ray, J. W., Waseem, N., Johnson, K., Brooks, M. J., Hugosson, T., Breuer, D., Branham, K. E., Krauth, D. S., Bowne, S. J., Sullivan, L. S., Ponjavic, V., Gränse, L., Khanna, R., Trager, E. H., Gieser, L. M., Hughbanks-Wheaton, D., Cojocaru, R. I., Ghiasvand, N. M., Chakarova, C. F. & 11 othersMagnus Abrahamson, Goering, H. H. H., Webster, A. R., Birch, D. G., Abecasis, G. R., Fann, Y., Bhattacharya, S. S., Daiger, S. P., Heckenlively, J. R., Sten Andréasson & Swaroop, A., 2009, In : American Journal of Human Genetics. 84, 6, p. 792-800

    Research output: Contribution to journalArticle

  40. 2008
  41. Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

    Enattah, N. S., Jensen, T. G. K., Nielsen, M., Lewinski, R., Kuokkanen, M., Rasinpera, H., El-Shanti, H., Seo, J. K., Alifrangis, M., Khalil, I. F., Natah, A., Ali, A., Natah, S., Comas, D., Mehdi, S. Q., Groop, L., Vestergaard, E. M., Imtiaz, F., Rashed, M. S., Meyer, B. & 2 othersTroelsen, J. & Peltonen, L., 2008, In : American Journal of Human Genetics. 82, 1, p. 57-72

    Research output: Contribution to journalArticle

  42. 2007
  43. Associating mitochondrial DNA variation with complex traits - Reply to Elson et al.

    Saxena, R., de Bakker, P. I. W., Leif Groop, Daly, M. J. & Altshuler, D., 2007, In : American Journal of Human Genetics. 80, 2, p. 382-383

    Research output: Contribution to journalLetter

  44. Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

    Enattah, N. S., Trudeau, A., Pimenoff, V., Maiuri, L., Auricchio, S., Greco, L., Rossi, M., Lentze, M., Seo, J. K., Rahgozar, S., Khalil, I., Alifrangis, M., Natah, S., Groop, L., Shaat, N., Kozlov, A., Verschubskaya, G., Comas, D., Bulayeva, K., Mehdi, S. Q. & 7 othersTerwilliger, J. D., Sahi, T., Savilahti, E., Perola, M., Sajantila, A., Jaervelae, I. & Peltonen, L., 2007, In : American Journal of Human Genetics. 81, 3, p. 615-625

    Research output: Contribution to journalArticle

  45. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

    Balciuniene, J., Feng, N., Iyadurai, K., Hirsch, B., Charnas, L., Bill, B. R., Easterday, M. C., Johan Staaf, Oseth, L., Czapansky-Beilman, D., Avramopoulos, D., Thomas, G. H., Åke Borg, Valle, D., Schimmenti, L. A. & Selleck, S. B., 2007, In : American Journal of Human Genetics. 80, 5, p. 938-947

    Research output: Contribution to journalArticle

  46. 2006
  47. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

    Saxena, R., de Bakker, PIW., Singer, K., Mootha, V., Burtt, N., Hirschhorn, JN., Gaudet, D., Isomaa, B., Daly, MJ., Leif Groop, Ardlie, KG. & Altshuler, D., 2006, In : American Journal of Human Genetics. 79, 1, p. 54-61

    Research output: Contribution to journalArticle

  48. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.

    Roach, J. C., Deutsch, K., Li, S., Siegel, A. F., Bekris, L. M., Einhaus, D. C., Janer, M., Sheridan, C. M., Glusman, G., Åke Lernmark, Hood, L., Study Group., D. I. I. S. & Study Group, S. C. D., 2006, In : American Journal of Human Genetics. 79, 4, p. 614-627

    Research output: Contribution to journalArticle

  49. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

    Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Sten Andréasson, Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R. & Swaroop, A., 2006, In : American Journal of Human Genetics. 79, 6, p. 1059-1070

    Research output: Contribution to journalArticle

  50. 2005
  51. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus

    Sigurdsson, S., Nordmark, G., Goring, HHH., Lindroos, K., Wiman, AC., Sturfelt, G., Andreas Jönsen, Rantapaa-Dahlqvist, S., Moller, B., Kere, J., Koskenmies, S., Widen, E., Eloranta, ML., Julkunen, H., Kristjansdottir, H., Steinsson, K., Alm, G., Ronnblom, L. & Syvanen, AC., 2005, In : American Journal of Human Genetics. 76, 3, p. 528-537

    Research output: Contribution to journalArticle

  52. 2004
  53. The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats.

    Barbouti, A., Stankiewicz, P., Nusbaum, C., Cuomo, C., Cook, A., Mattias Höglund, Bertil Johansson, Hagemeijer, A., Park, S-S., Felix Mitelman, Lupski, J. R. & Thoas Fioretos, 2004, In : American Journal of Human Genetics. 74, 1, p. 1-10

    Research output: Contribution to journalArticle

  54. 2003
  55. A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1

    Storlazzi, C., Anelli, L., Albano, F., Zagaria, A., Ventura, M., Rocchi, M., Panagopoulos, I., Pannunzio, A., Ottaviani, E., Liso, V. & Specchia, G., 2003, In : American Journal of Human Genetics. 73, 5, p. 223

    Research output: Contribution to journalPublished meeting abstract

  56. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies

    Antoniou, A., Pharoah, PDP., Narod, S., Risch, HA., Eyfjord, JE., Hopper, JL., Loman, N., Olsson, H., Johannsson, O., Borg, Å., Pasini, B., Radice, P., Manoukian, S., Eccles, DM., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J. & 13 othersGorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjakoski, K., Kallioniemi, OP., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, DG. & Easton, DF., 2003, In : American Journal of Human Genetics. 72, 5, p. 1117-1130

    Research output: Contribution to journalArticle

  57. Localization of a novel melanoma susceptibility locus to 1p22

    Gillanders, E., Juo, SHH., Holland, EA., Jones, M., Nancarrow, D., Freas-Lutz, D., Sood, R., Park, N., Faruque, M., Markey, C., Kefford, RF., Palmer, J., Bergman, W., Bishop, DT., Tucker, MA., Bressac-de Paillerets, B., Hansson, J., Stark, M., Gruis, N., Bishop, JN. & 5 othersGoldstein, AM., Bailey-Wilson, JE., Mann, GJ., Hayward, N. & Trent, J., 2003, In : American Journal of Human Genetics. 73, 2, p. 301-313

    Research output: Contribution to journalArticle

  58. 2002
  59. A variation in 3 ' UTR of hPTP1B increases specific gene expression and associates with insulin resistance

    Di Paola, R., Frittitta, L., Miscio, G., Bozzali, M., Baratta, R., Centra, M., Spampinato, D., Santagati, MG., Ercolino, T., Cisternino, C., Soccio, T., Mastroianno, S., Tassi, V., Almgren, P., Pizzuti, A., Vigneri, R. & Trischitta, V., 2002, In : American Journal of Human Genetics. 70, 3, p. 806-812

    Research output: Contribution to journalArticle

  60. Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.

    Lindgren, C. M., Mahtani, M. M., Widén, E., McCarthy, M. I., Daly, M. J., Kirby, A., Reeve, M. P., Kruglyak, L., Parker, A., Meyer, J., Almgren, P., Lehto, M., Kanninen, T., Tuomi, T., Leif Groop & Lander, E. S., 2002, In : American Journal of Human Genetics. 70, 2, p. 509-516

    Research output: Contribution to journalArticle

  61. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

    Visapaa, I., Vineta Fellman, Vesa, J., Dasvarma, A., Hutton, J. L., Kumar, V., Payne, G. S., Makarow, M., Van Coster, R., Taylor, R. W., Turnbull, D. M., Suomalainen, A. & Peltonen, L., 2002, In : American Journal of Human Genetics. 71, 4, p. 863-876

    Research output: Contribution to journalArticle

  62. 2001
  63. Somatic mosaicism in hemophilia A: A fairly common event

    Leuer, M., Lavergne, J-M., Fregin, A., Eigel, A., R. Ljung & Olek, K., 2001 Dec 29, In : American Journal of Human Genetics. 69, 1, p. 75-87 13 p.

    Research output: Contribution to journalArticle

  64. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation

    Zhao, F., C G Weismann, Satoda, M., Pierpont, M. E., Sweeney, E., Thompson, E. M. & Gelb, B. D., 2001 Oct, In : American Journal of Human Genetics. 69, 4, p. 695-703 9 p.

    Research output: Contribution to journalArticle

  65. Essential genetics education for non-genetics health professionals (EC Project GenEd)

    Harris, R., Harris, H. J., Challen, K., Ten Kate, L., Schmidtke, J., Nippert, I., Reynier, C. J. & Ulf Kristoffersson, 2001, In : American Journal of Human Genetics. 69, 4, Suppl., p. 433-433

    Research output: Contribution to journalArticle

  66. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height

    Hirschhorn, J. N., Lindgren, C., Daly, M. J., Kirby, A., Schaffner, S. F., Burtt, N. P., Altshuler, D., Parker, A., Rioux, J. D., Platko, J., Gaudet, D., Hudson, T. J., Leif Groop & Lander, E. S., 2001, In : American Journal of Human Genetics. 69, 1, p. 106-116

    Research output: Contribution to journalArticle

  67. Limitations of chromosome classification by multicolor karyotyping

    Lee, C., David Gisselsson Nord, Jin, C., Nordgren, A., Ferguson, D. O., Blennow, E., Fletcher, J. A. & Morton, C. C., 2001, In : American Journal of Human Genetics. 68, 4, p. 1043-1047

    Research output: Contribution to journalArticle

  68. Linkage disequilibrium at PPARG and other genes assessed with dense sets of SNPs.

    Hirschhorn, J. N., Altshuler, D., Daly, M. J., Lindgren, C. M., Burtt, N. P., Loomer, M., Villapakkam, A., Bolk, S., O'Donnell, C. J., Crews, J. D., Leif Groop & Lander, E. S., 2001, In : American Journal of Human Genetics. 69, 4, Suppl. 1, p. 522-522

    Research output: Contribution to journalArticle

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