Human Molecular Genetics, 0964-6906

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  1. Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish

    Aspatwar, A., Tolvanen, M. E. E., Jokitalo, E., Parikka, M., Ortutay, C., Harjula, S-K. E., Ramet, M., Mauno Vihinen & Parkkila, S., 2013, In : Human Molecular Genetics. 22, 3, p. 417-432

    Research output: Contribution to journalArticle

  2. A comprehensive analysis of common IGF1, IGFBP1 and IGFBP3 genetic variation with prospective IGF-I and IGFBP-3 blood levels and prostate cancer risk among

    Schumacher, F. R., Cheng, I., Freedman, M. L., Mucci, L., Allen, N. E., Pollak, M. N., Hayes, R. B., Stram, D. O., Canzian, F., Henderson, B. E., Hunter, D. J., Virtamo, J., Manjer, J., Gaziano, J. M., Kolonel, L. N., Tjonneland, A., Albanes, D., Calle, E. E., Giovannucci, E., Crawford, E. D. & 18 othersHaiman, C. A., Kraft, P., Willett, W. C., Thun, M. J., Marchand, L. L., Kaaks, R., Feigelson, H. S., Bueno-de-Mesquita, H. B., Palli, D., Riboli, E., Lund, E., Amiano, P., Andriole, G., Dunning, A. M., Trichopoulos, D., Stampfer, M. J., Key, T. J. & Ma, J., 2010, In : Human Molecular Genetics. 19, 15, p. 3089-3101

    Research output: Contribution to journalArticle

  3. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

    Buckley, P. G., Mantripragada, K. K., Benetkiewicz, M., Tapia-Páez, I., Diaz De Ståhl, T., Rosenquist, M., Ali, H., Jarbo, C., De Bustos, C., Hirvelä, C., Sinder Wilén, B., Fransson, I., Thyr, C., Johnsson, B-I., Bruder, C. E. G., Menzel, U., Hergersberg, M., Mandahl, N., Blennow, E., Wedell, A. & 11 othersBeare, D. M., Collins, J. E., Dunham, I., Albertson, D., Pinkel, D., Bastian, B. C., Faruqi, A. F., Lasken, R. S., Ichimura, K., Collins, V. P. & Dumanski, J. P., 2002, In : Human Molecular Genetics. 11, 25, p. 3221-3229

    Research output: Contribution to journalArticle

  4. A genome-wide association study of IgM antibody against phosphorylcholine: Shared genetics and phenotypic relationship to chronic lymphocytic leukemia

    Chen, X., Gustafsson, S., Whitington, T., Borné, Y., Lorentzen, E., Sun, J., Almgren, P., Su, J., Karlsson, R., Song, J., Lu, Y., Zhan, Y., Hägg, S., Svensson, P., Smedby, K. E., Slager, S. L., Ingelsson, E., Lindgren, C. M., Morris, A. P., Melander, O. & 9 othersKarlsson, T., de Faire, U., Caidahl, K., Gunnar Engström, Lind, L., Karlsson, M. C. I., Pedersen, N. L., Frostegård, J. & Magnusson, P. K. E., 2018 May 15, In : Human Molecular Genetics. 27, 10, p. 1809-1818 10 p.

    Research output: Contribution to journalArticle

  5. A genome wide scan for early onset primary hypertension in Scandinavians.

    von Wowern, F., Kristina Bengtsson Boström, Lindgren, C., Marju Orho-Melander, Fyhrquist, F., Lindblad, U., Lennart Råstam, Forsblom, C., Kanninen, T., Almgren, P., Burri, P., Katzman, P., Leif Groop, Hulthén, U. L. & Olle Melander, 2003, In : Human Molecular Genetics. 12, 16, p. 2077-2081

    Research output: Contribution to journalArticle

  6. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

    Bossini-Castillo, L., Martin, J-E., Broen, J., Gorlova, O., Simeon, C. P., Beretta, L., Vonk, M. C., Luis Callejas, J., Castellvi, I., Carreira, P., Jose Garcia-Hernandez, F., Fernandez Castro, M., Coenen, M. J. H., Riemekasten, G., Witte, T., Hunzelmann, N., Kreuter, A., Distler, J. H. W., Koeleman, B. P., Voskuyl, A. E. & 20 othersSchuerwegh, A. J., Palm, O., Roger Hesselstrand, Nordin, A., Airo, P., Lunardi, C., Scorza, R., Shiels, P., van Laar, J. M., Herrick, A., Worthington, J., Denton, C., Tan, F. K., Arnett, F. C., Agarwal, S. K., Assassi, S., Fonseca, C., Mayes, M. D., Radstake, T. R. D. J. & Martin, J., 2012, In : Human Molecular Genetics. 21, 4, p. 926-933

    Research output: Contribution to journalArticle

  7. A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa

    Paquet-Durand, F., Beck, S., Michalakis, S., Goldmann, T., Huber, G., Muehlfriedel, R., Trifunovic, D., Fischer, M. D., Fahl, E., Duetsch, G., Becirovic, E., Wolfrum, U., van Veen, T., Biel, M., Tanimoto, N. & Seeliger, M. W., 2011, In : Human Molecular Genetics. 20, 5, p. 941-947

    Research output: Contribution to journalArticle

  8. alpha-Synuclein expression and Nrf2 deficiency cooperate to aggravate protein aggregation, neuronal death and inflammation in early-stage Parkinson's disease

    Lastres-Becker, I., Ulusoy, A., Innamorato, N. G., Gurdal Sahin, Rabano, A., Deniz Kirik & Cuadrado, A., 2012, In : Human Molecular Genetics. 21, 14, p. 3173-3192

    Research output: Contribution to journalArticle

  9. Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

    Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Stefan Karlsson & Futerman, A. H., 2010, In : Human Molecular Genetics. 19, 18, p. 3583-3590

    Research output: Contribution to journalArticle

  10. A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes.

    Demenais, F., Kanninen, T., Lindgren, C., Wiltshire, S., Gaget, S., Dandrieux, C., Almgren, P., Marketa Sjögren, Hattersley, A., Dina, C., Tuomi, T., McCarthy, M. I., Froguel, P. & Leif Groop, 2003, In : Human Molecular Genetics. 12, 15, p. 1865-1873

    Research output: Contribution to journalArticle

  11. Analysis with the exome array identifies multiple new independent variants in lipid loci

    Kanoni, S., Masca, N. G. D., Stirrups, K. E., Varga, T. V., Warren, H. R., Scott, R. A., Southam, L., Zhang, W., Yaghootkar, H., Müller-Nurasyid, M., Alves, A. C., Strawbridge, R. J., Lataniotis, L., Hashim, N. A., Besse, C., Boland, A., Braund, P. S., Connell, J. M., Dominiczak, A., Farmaki, A-E. & 41 othersFranks, S., Grallert, H., Jansson, J-H., Karaleftheri, M., Keinänen-Kiukaanniemi, S., Matchan, A., Pasko, D., Peters, A., Poulter, N., Rayner, N. W., Frida Renström, Rolandsson, O., Sabater-Lleal, M., Sennblad, B., Sever, P., Shields, D. C., Silveira, A., Stanton, A. V., Strauch, K., Tomaszewski, M., Tsafantakis, E., Waldenberger, M., Blakemore, A. I. F., Dedoussis, G., Escher, S. A., Kooner, J. S., McCarthy, M. I., Palmer, C. N. A., Hamsten, A., Caulfield, M. J., Frayling, T. M., Tobin, M. D., Jarvelin, M. R., Zeggini, E., Gieger, C., Chambers, J. C., Wareham, N. J., Munroe, P. B., Paul W. Franks, Samani, N. J. & Deloukas, P., 2016, In : Human Molecular Genetics. 25, 18, p. 4094-4106 13 p.

    Research output: Contribution to journalArticle

  12. A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons

    Braunstein, K. E., Eschbach, J., Rona-Voeroes, K., Soylu, R., Mikrouli, E., Larmet, Y., Rene, F., De Aguilar, J-L. G., Loeffler, J-P., Mueller, H-P., Bucher, S., Kaulisch, T., Niessen, H. G., Tillmanns, J., Fischer, K., Schwalenstoecker, B., Kassubek, J., Pichler, B., Stiller, D., Petersén, Å. & 2 othersLudolph, A. C. & Dupuis, L., 2010, In : Human Molecular Genetics. 19, 22, p. 4385-4398

    Research output: Contribution to journalArticle

  13. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

    Sigurdsson, S., Nordmark, G., Garnier, S., Grundberg, E., Kwan, T., Nilsson, O., Eloranta, M-L., Gunnarsson, I., Svenungsson, E., Sturfelt, G., Bengtsson, A. A., Jonsen, A., Lennart Truedsson, Rantapaa-Dahlqvist, S., Eriksson, C., Alm, G., Goring, H. H. H., Pastinen, T., Syvanen, A-C. & Ronnblom, L., 2008, In : Human Molecular Genetics. 17, 18, p. 2868-2876

    Research output: Contribution to journalArticle

  14. Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

    Schick, U. M., Auer, P. L., Bis, J. C., Lin, H., Wei, P., Pankratz, N., Lange, L. A., Brody, J., Stitziel, N. O., Kim, D. S., Carlson, C. S., Fornage, M., Haessler, J., Hsu, L., Jackson, R. D., Kooperberg, C., Leal, S. M., Psaty, B. M., Boerwinkle, E., Tracy, R. & 24 othersArdissino, D., Shah, S., Willer, C., Loos, R., Olle Melander, Mcpherson, R., Hovingh, K., Reilly, M., Watkins, H., Girelli, D., Fontanillas, P., Chasman, D. I., Gabriel, S. B., Gibbs, R., Nickerson, D. A., Kathiresan, S., Peters, U., Dupuis, J., Wilson, J. G., Rich, S. S., Morrison, A. C., Benjamin, E. J., Gross, M. D. & Reiner, A. P., 2015, In : Human Molecular Genetics. 24, 2, p. 559-571

    Research output: Contribution to journalArticle

  15. Autophagy is increased in laminin {alpha}2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.

    Carmignac, V., Svensson, M., Körner, Z., Linda Elowsson, Matsumura, C., Kinga Gawlik, Allamand, V. & Madeleine Durbeej-Hjalt, 2011, In : Human Molecular Genetics. 20, 24, p. 4891-4902

    Research output: Contribution to journalArticle

  16. Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice

    Dumont, M., Stack, C., Elipenahli, C., Jainuddin, S., Gerges, M., Starkova, N., Calingasan, N. Y., Yang, L., Tampellini, D., Starkov, A. A., Chan, R. B., Di Paolo, G., Pujol, A. & Beal, M. F., 2012, In : Human Molecular Genetics. 21, 23, p. 5091-5105

    Research output: Contribution to journalArticle

  17. Cholinergic neuronal defect without cell loss in Huntington's disease.

    Ruben Smith, Chung, H., Rundquist, S., Maat-Schieman, M. L. C., Colgan, L., Elisabet Englund, Liu, Y-J., Roos, R. A. C., Faull, R. L. M., Brundin, P. & Jia-Yi Li, 2006, In : Human Molecular Genetics. 15, 21, p. 3119-3131

    Research output: Contribution to journalArticle

  18. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P. & 161 othersMai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A-M., Kruse, T. A., Jensen, U. B., Crueger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Niklas Loman, Katja Harbst, Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Gorski, B., Osorio, A., Ramon y Cajal, T., Fostira, F., Andres, R., Benitez, J., Hamann, U., Hogervorst, F. B., Rookus, M. A., Hooning, M. J., Nelen, M. R., van der Luijt, R. B., van Os, T. A. M., van Asperen, C. J., Devilee, P., Meijers-Heijboer, H. E. J., Garcia, E. B. G., Peock, S., Cook, M., Frost, D., Platte, R., Leyland, J., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Eccles, D., Ong, K., Cook, J., Douglas, F., Paterson, J., Kennedy, M. J., Miedzybrodzka, Z., Godwin, A., Stoppa-Lyonnet, D., Buecher, B., Belotti, M., Tirapo, C., Mazoyer, S., Barjhoux, L., Lasset, C., Leroux, D., Faivre, L., Bronner, M., Prieur, F., Nogues, C., Rouleau, E., Pujol, P., Coupier, I., Frenay, M., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Tea, M-K., Pfeiler, G., Dressler, A. C., Hansen, T. V. O., Jonson, L., Ejlertsen, B., Barkardottir, R. B., Kirchhoff, T., Offit, K., Piedmonte, M., Rodriguez, G., Small, L., Boggess, J., Blank, S., Basil, J., Azodi, M., Toland, A. E., Montagna, M., Tognazzo, S., Agata, S., Imyanitov, E., Janavicius, R., Lazaro, C., Blanco, I., Pharoah, P. D. P., Sucheston, L., Karlan, B. Y., Walsh, C. S., Olah, E., Bozsik, A., Teo, S-H., Seldon, J. L., Beattie, M. S., van Rensburg, E. J., Sluiter, M. D., Diez, O., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ruehl, I., Varon-Mateeva, R., Kast, K., Deissler, H., Niederacher, D., Arnold, N., Gadzicki, D., Schoenbuchner, I., Caldes, T., de la Hoya, M., Nevanlinna, H., Aittomaki, K., Dumont, M., Chiquette, J., Tischkowitz, M., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Fredericksen, Z., Wang, X., Pankratz, V. S., Couch, F., Simard, J., Easton, D. F., Chenevix-Trench, G., Åke Borg & Håkan Olsson, 2011, In : Human Molecular Genetics. 20, 16, p. 3304-3321

    Research output: Contribution to journalArticle

  19. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L. & 117 othersRadice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., Gerdes, A-M., Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Efrat, ., Baruch, R. G., Friedman, E., Katja Harbst, Barbany-Bustinza, G., Rantala, J., Hans Ehrencrona, Karlsson, P., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benitez, J., Hamann, U., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Leone, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., Goldgar, D., Miron, A., John, E. M., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T. V. O., Barkardottir, R. B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Allavena, A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Suttner, C., Schoenbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, K. A., Easton, D. F. & Chenevix-Trench, G., 2009, In : Human Molecular Genetics. 18, 22, p. 4442-4456

    Research output: Contribution to journalArticle

  20. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

    Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Thomassen, M., Gerdes, A-M., Caligo, M. A., Friedman, E., Laitman, Y., Kaufman, B. & 90 othersPaluch, S. S., Åke Borg, Karlsson, P., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benitez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Paterson, J., Eason, J., Godwin, A. K., Remon, M-A., Moncoutier, V., Gauthier-Villars, M., Lasset, C., Giraud, S., Hardouin, A., Berthet, P., Sobol, H., Eisinger, F., de Paillerets, B. B., Caron, O., Delnatte, C., Goldgar, D., Miron, A., Ozcelik, H., Buys, S., Southey, M. C., Terry, M. B., Singer, C. F., Dressler, A-C., Tea, M-K., Hansen, T. V. O., Johannsson, O., Piedmonte, M., Rodriguez, G. C., Basil, J. B., Blank, S., Toland, A. E., Montagna, M., Isaacs, C., Blanco, I., Gayther, S. A., Moysich, K. B., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Sutter, C., Gadzicki, D., Fiebig, B., Caldes, T., Laframboise, R., Nevanlinna, H., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Peterlongo, P., Manoukian, S., Bernard, L., Radice, P., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Stoppa-Lyonnet, D., Mazoyer, S., Sinilnikova, O. M. & Håkan Olsson, 2011, In : Human Molecular Genetics. 20, 23, p. 4732-4747

    Research output: Contribution to journalArticle

  21. Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

    Sigurdsson, S., Goering, H. H. H., Kristjansdottir, G., Milani, L., Nordmark, G., Sandling, J. K., Eloranta, M-L., Feng, D., Sangster-Guity, N., Gunnarsson, I., Svenungsson, E., Sturfelt, G., Andreas Jönsen, Lennart Truedsson, Barnes, B. J., Alm, G., Roennblom, L. & Syvaenen, A-C., 2008, In : Human Molecular Genetics. 17, 6, p. 872-881

    Research output: Contribution to journalArticle

  22. Consortium-based genome-wide meta-analysis for childhood dental caries traits

    Haworth, S., Shungin, D., Van Der Tas, J. T., Vucic, S., Medina-Gomez, C., Yakimov, V., Feenstra, B., Shaffer, J. R., Lee, M. K., Standl, M., Thiering, E., Wang, C., Bønnelykke, K., Waage, J., Jessen, L. E., Nørrisgaard, P. E., Joro, R., Seppälä, I., Raitakari, O., Dudding, T. & 23 othersGrgic, 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., Paul W. Franks, Johansson, I. & Timpson, N. J., 2018, In : Human Molecular Genetics. 27, 17, p. 3113-3127

    Research output: Contribution to journalArticle

  23. Deciphering the 8q24.21 association for glioma

    Enciso-Mora, V., Hosking, F. J., Kinnersley, B., Wang, Y., Shete, S., Zelenika, D., Broderick, P., Idbaih, A., Delattre, J-Y., Hoang-Xuan, K., Marie, Y., Di Stefano, A. L., Labussiere, M., Dobbins, S., Boisselier, B., Ciccarino, P., Rossetto, M., Armstrong, G., Liu, Y., Gousias, K. & 18 othersSchramm, J., Lau, C., Hepworth, S. J., Strauch, K., Mueller-Nurasyid, M., Schreiber, S., Franke, A., Moebus, S., Eisele, L., Asta Försti, Kari Hemminki, Tomlinson, I. P., Swerdlow, A., Lathrop, M., Simon, M., Bondy, M., Sanson, M. & Houlston, R. S., 2013, In : Human Molecular Genetics. 22, 11, p. 2293-2302

    Research output: Contribution to journalArticle

  24. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

    Grau, T., Artemyev, N. O., Rosenberg, T., Dollfus, H., Haugen, O. H., Sener, E. C., Jurklies, B., Sten Andréasson, Kernstock, C., Larsen, M., Zrenner, E., Wissinger, B. & Kohl, S., 2011, In : Human Molecular Genetics. 20, 4, p. 719-730

    Research output: Contribution to journalArticle

  25. DNA-BASED MUTATION ANALYSIS OF BRUTONS TYROSINE KINASE GENE IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA

    VORECHOVSKY, I., Mauno Vihinen, DESAINTBASILE, G., HONSOVA, S., HAMMARSTROM, L., MULLER, S., NILSSON, L., FISCHER, A. & SMITH, CIE., 1995, In : Human Molecular Genetics. 4, 1, p. 51-58

    Research output: Contribution to journalArticle

  26. DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

    Esteller, M., Fraga, M. F., Guo, M., Garcia-Foncillas, J., Hedenfalk, I., Godwin, A. K., Trojan, J., Vaurs-Barriere, C., Bignon, Y-J., Ramus, S., Benitez, J., Caldes, T., Akiyama, Y., Yuasa, Y., Launonen, V., Canal, M. J., Rodriguez, R., Capella, G., Peinado, M. A., Borg, Å. & 4 othersAaltonen, L. A., Ponder, B. A., Baylin, S. B. & Herman, J. G., 2001, In : Human Molecular Genetics. 10, 26, p. 3001-3007

    Research output: Contribution to journalArticle

  27. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

    Baker, N. L., Mörgelin, M., Peat, R., Goemans, N., North, K. N., Bateman, J. F. & Lamande, S. R., 2005, In : Human Molecular Genetics. 14, 2, p. 279-293

    Research output: Contribution to journalArticle

  28. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration

    Vlachantoni, D., Bramall, A. N., Murphy, M. P., Taylor, R. W., Shu, X., Tulloch, B., van Veen, T., Turnbull, D. M., McInnes, R. R. & Wright, A. F., 2011, In : Human Molecular Genetics. 20, 2, p. 322-335

    Research output: Contribution to journalArticle

  29. Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration

    Åsa Petersén, Larsen, K. E., Behr, G. G., Romero, N., Przedborski, S., Brundin, P. & Sulzer, D., 2001, In : Human Molecular Genetics. 10, 12, p. 1243-1254

    Research output: Contribution to journalArticle

  30. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

    Peterlongo, P., Catucci, I., Colombo, M., Caleca, L., Mucaki, E., Bogliolo, M., Marin, M., Damiola, F., Bernard, L., Pensotti, V., Volorio, S., Dall'Olio, V., Meindl, A., Bartram, C., Sutter, C., Surowy, H., Sornin, V., Dondon, M-G., Eon-Marchais, S., Stoppa-Lyonnet, D. & 76 othersAndrieu, N., Sinilnikova, O. M., Mitchell, G., James, P. A., Thompson, E., Marchetti, M., Verzeroli, C., Tartari, C., Capone, G. L., Putignano, A. L., Genuardi, M., Medici, V., Marchi, I., Federico, M., Tognazzo, S., Matricardi, L., Agata, S., Dolcetti, R., Puppa, L. D., Cini, G., Gismondi, V., Viassolo, V., Perfumo, C., Mencarelli, M. A., Baldassarri, M., Peissel, B., Roversi, G., Silvestri, V., Rizzolo, P., Spina, F., Vivanet, C., Tibiletti, M. G., Caligo, M. A., Gambino, G., Tommasi, S., Pilato, B., Tondini, C., Corna, C., Bonanni, B., Barile, M., Osorio, A., Benitez, J., Balestrino, L., Ottini, L., Manoukian, S., Pierotti, M. A., Renieri, A., Varesco, L., Couch, F. J., Wang, X., Devilee, P., Hilbers, F. S., van Asperen, C. J., Viel, A., Montagna, M., Cortesi, L., Diez, O., Balmaña, J., Hauke, J., Schmutzler, R. K., Papi, L., Pujana, M. A., Lázaro, C., Falanga, A., Offit, K., Vijai, J., Campbell, I., Burwinkel, B., Anders Kvist, Hans Ehrencrona, Mazoyer, S., Pizzamiglio, S., Verderio, P., Surralles, J., Rogan, P. K. & Radice, P., 2015, In : Human Molecular Genetics. 24, 18, p. 5345-5355

    Research output: Contribution to journalArticle

  31. 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. & 89 othersEriksson, 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., Carola Zillikens, M., Franco, O. H., Shyong Tai, E., Ou Shu, X., Siscovick, D. S., Toft, U., Monique Verschuren, W. 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., Adrienne Cupples, L., Rankinen, T., Marju Orho-Melander, Wang, T., Chasman, D. I., Paul Franks, Sørensen, T. I. A., Hu, F. B., Loos, R. J. F., Nettleton, J. A. & Qi, L., 2014, In : Human Molecular Genetics. 23, 25, p. 6961-6972

    Research output: Contribution to journalArticle

  32. Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration

    Mariann Kremlitzka, Geerlings, M. J., De Jong, S., Bakker, B., Sara C. Nilsson, Fauser, S., Hoyng, C. B., De Jong, E. K., Den Hollander, A. I. & Anna M. Blom, 2018, In : Human Molecular Genetics. 27, 15, p. 2678-2688 11 p.

    Research output: Contribution to journalArticle

  33. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

    J Vallon-Christersson, Cayanan, C., Haraldsson, K., N Loman, Bergthorsson, J. T., Brøndum-Nielsen, K., Gerdes, A. M., Møller, P., U Kristoffersson, Håkan Olsson, Åke Borg & Monteiro, A. N., 2001 Feb 15, In : Human Molecular Genetics. 10, 4, p. 353-60 8 p.

    Research output: Contribution to journalArticle

  34. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma

    Storlazzi, T., Fredrik Mertens, Nascimento, A., Isaksson, M., Wejde, J., Brosjo, O., Nils Mandahl & Panagopoulos, I., 2003 Sep 15, In : Human Molecular Genetics. 12, 18, p. 2349-2358 10 p.

    Research output: Contribution to journalArticle

  35. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)

    Panagopoulos, I., Thoas Fioretos, Isaksson, M., Samuelsson, U., Billström, R., Strömbeck, B., Felix Mitelman & Bertil Johansson, 2001, In : Human Molecular Genetics. 10, 4, p. 395-404

    Research output: Contribution to journalArticle

  36. Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

    Yoneyama, S., Guo, Y., Lanktree, M. B., Barnes, M. R., Elbers, C. C., Karczewski, K. J., Padmanabhan, S., Bauer, F., Baumert, J., Beitelshees, A., Berenson, G. S., Boer, J. M. A., Burke, G., Cade, B., Chen, W., Cooper-Dehoff, R. M., Gaunt, T. R., Gieger, C., Gong, Y., Gorski, M. & 54 othersHeard-Costa, N., Johnson, T., Lamonte, M. J., Mcdonough, C., Monda, K. L., Onland-Moret, N. C., Nelson, C. P., O'Connell, J. R., Ordovas, J., Peter, I., Peters, A., Shaffer, J., Shen, H., Smith, E., Speilotes, L., Thomas, F., Thorand, B., Verschuren, W. M. M., Anand, S. S., Dominiczak, A., Davidson, K. W., Hegele, R. A., Heid, I., Hofker, M. H., Huggins, G. S., Illig, T., Johnson, J. A., Kirkland, S., Koenig, W., Langaee, T. Y., Mccaffery, J., Olle Melander, Mitchell, B. D., Munroe, P., Murray, S. S., Papanicolaou, G., Redline, S., Reilly, M., Samani, N. J., Schork, N. J., Van der Schouw, Y. T., Shimbo, D., Shuldiner, A. R., Tobin, M. D., Wijmenga, C., Yusuf, S., Hakonarson, H., Lange, L. A., Demerath, E. W., Fox, C. S., North, K. E., Reiner, A. P., Keating, B. & Taylor, K. C., 2014, In : Human Molecular Genetics. 23, 9, p. 2498-2510

    Research output: Contribution to journalArticle

  37. Gene×dietary pattern interactions in obesity: analysis of up to 68,317 adults of European ancestry.

    Nettleton, J. A., Follis, J. L., Ngwa, J. S., Smith, C. E., Ahmad, S., Tanaka, T., Wojczynski, M. K., Voortman, T., Lemaitre, R. N., Kristiansson, K., Nuotio, M-L., Houston, D. K., Perälä, M-M., Qi, Q., Sonestedt, E., Manichaikul, A., Kanoni, S., Ganna, A., Mikkilä, V., North, K. E. & 51 othersSiscovick, D. S., Harald, K., McKeown, N. M., Johansson, I., Rissanen, H., Liu, Y., Lahti, J., Hu, F. B., Bandinelli, S., Rukh, G., Rich, S., Booij, L., Dmitriou, M., Ax, E., Raitakari, O., Mukamal, K., Männistö, S., Hallmans, G., Jula, A., Ulrika Ericson, Jacobs, D. R., van Rooij, F. J. A., Deloukas, P., Sjögren, P., Kähönen, M., Djousse, L., Perola, M., Barroso, I., Hofman, A., Stirrups, K., Viikari, J., Uitterlinden, A. G., Kalafati, I. P., Franco, O. H., Mozaffarian, D., Salomaa, V., Borecki, I. B., Knekt, P., Kritchevsky, S. B., Eriksson, J. G., Dedoussis, G. V., Qi, L., Ferrucci, L., Marju Orho-Melander, Zillikens, M. C., Ingelsson, E., Lehtimäki, T., Frida Renström, Cupples, L. A., Loos, R. & Paul Franks, 2015, In : Human Molecular Genetics. 24, 16, p. 4728-4738

    Research output: Contribution to journalArticle

  38. Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to disease

    Bomprezzi, R., Markus Ringnér, Kim, S., Bittner, ML., Khan, J., Chen, YD., Elkahloun, A., Yu, AM., Bielekova, B., Meltzer, PS., Martin, R., McFarland, HF. & Trent, JM., 2003, In : Human Molecular Genetics. 12, 17, p. 2191-2199

    Research output: Contribution to journalArticle

  39. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies.

    Bras, J., Guerreiro, R., Darwent, L., Parkkinen, L., Ansorge, O., Escott-Price, V., Hernandez, D. G., Nalls, M. A., Clark, L., Honig, L., Marder, K., van der Flier, W., Lemstra, A., Scheltens, P., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H., Ortega-Cubero, S., Pastor, P. & 22 othersFerman, T. J., Graff-Radford, N. R., Ross, O. A., Barber, I., Braae, A., Brown, K., Morgan, K., Maetzler, W., Berg, D., Troakes, C., Al-Sarraj, S., Lashley, T., Compta, Y., Revesz, T., Lees, A., Cairns, N., Halliday, G. M., Mann, D., Pickering-Brown, S., Dickson, D., Singleton, A. & Hardy, J., 2014, In : Human Molecular Genetics. 23, 23, p. 6139-6146

    Research output: Contribution to journalArticle

  40. Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

    Moayyeri, A., Hsu, Y-H., Karasik, D., Estrada, K., Xiao, S-M., Nielson, C., Srikanth, P., Giroux, S., Wilson, S. G., Zheng, H-F., Smith, A. V., Pye, S. R., Leo, P. J., Teumer, A., Hwang, J-Y., Ohlsson, C., McGuigan, F., Minster, R. L., Hayward, C., Olmos, J. M. & 110 othersLyytikaeinen, L-P., Lewis, J. R., Swart, K. M. A., Masi, L., Oldmeadow, C., Holliday, E. G., Cheng, S., van Schoor, N. M., Harvey, N. C., Kruk, M., Fabiola Del Greco, M., Igl, W., Trummer, O., Grigoriou, E., Luben, R., Liu, C-T., Zhou, Y., Oei, L., Medina-Gomez, C., Zmuda, J., Tranah, G., Brown, S. J., Williams, F. M., Soranzo, N., Jakobsdottir, J., Siggeirsdottir, K., Holliday, K. L., Hannemann, A., Go, M. J., Garcia, M., Polasek, O., Laaksonen, M., Zhu, K., Enneman, A. W., McEvoy, M., Peel, R., Sham, P. C., Jaworski, M., Johansson, A., Hicks, A. A., Pludowski, P., Scott, R., Dhonukshe-Rutten, R. A. M., van der Velde, N., Kaehoenen, M., Viikari, J. S., Sievaenen, H., Raitakari, O. T., Gonzalez-Macias, J., Hernandez, J. L., Mellstroem, D., Ljunggren, O., Cho, Y. S., Voelker, U., Nauck, M., Homuth, G., Voelzke, H., Haring, R., Brown, M. A., McCloskey, E., Nicholson, G. C., Eastell, R., Eisman, J. A., Jones, G., Reid, I. R., Dennison, E. M., Wark, J., Boonen, S., Vanderschueren, D., Wu, F. C. W., Aspelund, T., Richards, J. B., Bauer, D., Hofman, A., Khaw, K-T., Dedoussis, G., Obermayer-Pietsch, B., Gyllensten, U., Pramstaller, P. P., Lorenc, R. S., Cooper, C., Kung, A. W. C., Lips, P., Alen, M., Attia, J., Luisa Brandi, M., de Groot, L. C. P. G. M., Lehtimaeki, T., Riancho, J. A., Campbell, H., Liu, Y., Harris, T. B., Kristina Åkesson, Magnus Karlsson, Lee, J-Y., Wallaschofski, H., Duncan, E. L., O'Neill, T. W., Gudnason, V., Spector, T. D., Rousseau, F., Orwoll, E., Cummings, S. R., Wareham, N. J., Rivadeneira, F., Uitterlinden, A. G., Prince, R. L., Kiel, D. P., Reeve, J. & Kaptoge, S. K., 2014, In : Human Molecular Genetics. 23, 11, p. 3054-3068

    Research output: Contribution to journalArticle

  41. Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

    Perry, J. R. B., Weedon, M. N., Langenberg, C., Jackson, A. U., Lyssenko, V., Sparso, T., Thorleifsson, G., Grallert, H., Ferrucci, L., Maggio, M., Paolisso, G., Walker, M., Palmer, C. N. A., Payne, F., Young, E., Herder, C., Narisu, N., Morken, M. A., Bonnycastle, L. L., Owen, K. R. & 38 othersShields, B., Knight, B., Bennett, A., Groves, C. J., Ruokonen, A., Jarvelin, M. R., Pearson, E., Pascoe, L., Ferrannini, E., Bornstein, S. R., Stringham, H. M., Scott, L. J., Kuusisto, J., Peter Nilsson, Neptin, M., Gjesing, A. P., Pisinger, C., Lauritzen, T., Sandbaek, A., Sampson, M., Magic, E. Z., Lindgren, C. M., Steinthorsdottir, V., Thorsteinsdottir, U., Hansen, T., Schwarz, P., Illig, T., Laakso, M., Stefansson, K., Morris, A. D., Leif Groop, Pedersen, O., Boehnke, M., Barroso, I., Wareham, N. J., Hattersley, A. T., McCarthy, M. I. & Frayling, T. M., 2010, In : Human Molecular Genetics. 19, 3, p. 535-544

    Research output: Contribution to journalArticle

  42. Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs

    Toenjes, A., Koriath, M., Schleinitz, D., Dietrich, K., Boettcher, Y., Rayner, N. W., Almgren, P., Enigk, B., Richter, O., Rohm, S., Fischer-Rosinsky, A., Pfeiffer, A., Hoffmann, K., Krohn, K., Aust, G., Spranger, J., Leif Groop, Blueher, M., Kovacs, P. & Stumvoll, M., 2009, In : Human Molecular Genetics. 18, 23, p. 4662-4668

    Research output: Contribution to journalArticle

  43. 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. & 143 othersSwerdlow, 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., Le Marchand, L., Ekici, A. B., Hartmann, A., Beckmann, M. W., Hartikainen, J. M., Kosma, V-M., Kataja, V., Jukkola-Vuorinen, A., Pylkäs, K., Kauppila, S., Dieffenbach, A. K., Stegmaier, C., Arndt, V., Margolin, S., Balleine, R., Arias Perez, J. I., Zamora, M. P., Menéndez, P., Ashworth, A., Jones, M., Orr, N., Arveux, P., Kerbrat, P., Truong, T., Bugert, P., Toland, A. E., Ambrosone, C. B., Labrèche, F., Goldberg, M. S., Dumont, M., Ziogas, A., Lee, E., Dite, G. S., Apicella, C., Southey, M. C., Long, J., Shrubsole, M., Deming-Halverson, S., Ficarazzi, F., Barile, M., Peterlongo, P., Durda, K., Jaworska-Bieniek, K., Tollenaar, R. A. E. M., Seynaeve, C., Brüning, T., Ko, Y-D., van Deurzen, C. H. M., Martens, J. W. M., Kriege, M., Figueroa, J. D., Chanock, S. J., Lissowska, J., Tomlinson, I., Kerin, M. J., Miller, N., Schneeweiss, A., Tapper, W. J., Gerty, S. M., Durcan, L., McLean, C., Milne, R. L., Baglietto, L., Dos Santos Silva, I., Fletcher, O., Johnson, N., Van't Veer, L. J., Cornelissen, S., Asta Försti, Torres, D., Rüdiger, T., Rudolph, A., Flesch-Janys, D., Nickels, S., Weltens, C., Floris, G., Moisse, M., Dennis, J., Wang, Q., Dunning, A. M., Shah, M., Brown, J., Simard, J., Anton-Culver, H., Neuhausen, S. L., Hopper, J. L., Bogdanova, N., Dörk, T., Zheng, W., Radice, P., Jakubowska, A., Lubinski, J., Devillee, P., Brauch, H., Hooning, M., García-Closas, M., Sawyer, E., Burwinkel, B., Marmee, F., Eccles, D. M., Giles, G. G., Peto, J., Schmidt, M., Broeks, A., Hamann, U., Chang-Claude, J., Lambrechts, D., Pharoah, P. D. P., Easton, D., Pankratz, V. S., Slager, S., Vachon, C. M. & Couch, F. J., 2014, In : Human Molecular Genetics. 23, 22, p. 6034-6046

    Research output: Contribution to journalArticle

  44. Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

    Reutter, H., Draaken, M., Pennimpede, T., Wittler, L., Brockschmidt, F. F., Ebert, A-K., Bartels, E., Rösch, W., Boemers, T. M., Hirsch, K., Schmiedeke, E., Meesters, C., Becker, T., Stein, R., Utsch, B., Mangold, E., Nordenskjöld, A., Barker, G., Clementson Kockum, C., Zwink, N. & 13 othersHolmdahl, G., Läckgren, G., Jenetzky, E., Feitz, W. F., Marcelis, C., Wijers, C. H. W., van Rooij, I. A. L. M., Gearhart, J. P., Herrmann, B. G., Ludwig, M., Boyadjiev, S. A., Nöthen, M. M. & Mattheisen, M., 2014, In : Human Molecular Genetics. 23, 20, p. 5536-5544

    Research output: Contribution to journalArticle

  45. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

    Amos, C. I., Wang, L-E., Lee, J. E., Gershenwald, J. E., Chen, W. V., Fang, S., Kosoy, R., Zhang, M., Qureshi, A. A., Vattathil, S., Schacherer, C. W., Gardner, J. M., Wang, Y., Bishop, D. T., Barrett, J. H., MacGregor, S., Hayward, N. K., Martin, N. G., Duffy, D. L., Mann, G. J. & 15 othersCust, A., Hopper, J., Brown, K. M., Grimm, E. A., Xu, Y., Han, Y., Jing, K., McHugh, C., Laurie, C. C., Doheny, K. F., Pugh, E. W., Seldin, M. F., Han, J., Wei, Q. & GenoMEL Investigators, 2011 Dec 15, In : Human Molecular Genetics. 20, 24, p. 5012-23 12 p.

    Research output: Contribution to journalArticle

  46. Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers

    Yan Borné, Martin Söderholm, Barregard, L., Fagerberg, B., Margaretha Persson, Olle Melander, Thévenod, F., Bo Hedblad & Gunnar Engström, 2016 Jun 22, In : Human Molecular Genetics. 25, 11, p. 2342-2348

    Research output: Contribution to journalArticle

  47. Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis

    Fadista, J., Skotte, L., Geller, F., Bybjerg-Grauholm, J., Gørtz, S., Romitti, P. A., Caggana, M., Kay, D. M., Matsson, H., Boyd, H. A., Hougaard, D. M., Nordenskjöld, A., Mills, J. L., Melbye, M. & Feenstra, B., 2019, In : Human Molecular Genetics. 28, 2, p. 332-340 9 p.

    Research output: Contribution to journalArticle

  48. Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin

    Tönjes, A., Scholz, M., Krüger, J., Krause, K., Schleinitz, D., Kirsten, H., Gebhardt, C., Marzi, C., Grallert, H., Ladenvall, C., Heyne, H., Laurila, E., Kriebel, J., Meisinger, C., Rathmann, W., Gieger, C., Groop, L., Prokopenko, I., Isomaa, B., Beutner, F. & 9 othersKratzsch, J., Fischer-Rosinsky, A., Pfeiffer, A., Krohn, K., Spranger, J., Thiery, J., Blüher, M., Stumvoll, M. & Kovacs, P., 2018 Feb 1, In : Human Molecular Genetics. 27, 3, p. 546-558

    Research output: Contribution to journalArticle

  49. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

    Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Maria Råstam, Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., Penet, C., Feingold, J., Brice, A. & Leboyer, M., 1999, In : Human Molecular Genetics. 8, 5, p. 805-812

    Research output: Contribution to journalArticle

  50. High-resolution mapping of a complex disease, a model for rheumatoid arthritis, using heterogeneous stock mice

    Emma Ahlqvist, Ekman, D., Lindvall, T., Popovic, M., Förster, M., Hultqvist, M., Klaczkowska, D., Teneva, I., Johannesson, M., Flint, J., Valdar, W., Kutty Selva, N. & Holmdahl, R., 2011, In : Human Molecular Genetics. 20, 15, p. 3031-3041

    Research output: Contribution to journalArticle

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