Human Molecular Genetics, 0964-6906

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  1. Article
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

    Segal-Salto, M., Hansson, K., Sapir, T., Kaplan, A., Levy, T., Schweizer, M., Frotscher, M., Peter James & Reiner, O., 2017 May 1, In : Human Molecular Genetics. 26, 9, p. 1678-1693 16 p., ddx074.

    Research output: Contribution to journalArticle

  8. 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

  9. 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

  10. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

    Bedoni, N., Haer-Wigman, L., Vaclavik, V., Tran, V. H., Farinelli, P., Balzano, S., Royer-Bertrand, B., El-Asrag, M. E., Bonny, O., Ikonomidis, C., Litzistorf, Y., Nikopoulos, K., Yioti, G. G., Stefaniotou, M. I., McKibbin, M., Booth, A. P., Ellingford, J. M., Black, G. C. M., Toomes, C., Inglehearn, C. F. & 11 othersHoyng, C. B., Bax, N., Klaver, C. C. W., Thiadens, A. A., Murisier, F., Schorderet, D. F., Ali, M., Cremers, F. P. M., Sten Andréasson, Munier, F. L. & Rivolta, C., 2016, In : Human Molecular Genetics. 25, 20, p. 4546-4555 10 p.

    Research output: Contribution to journalArticle

  11. Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus

    Acevedo, N., Reinius, L. E., Greco, D., Gref, A., Christina Orsmark-Pietras, Helena Persson, Pershagen, G., Hedlin, G., Melén, E., Scheynius, A., Kere, J. & Söderhäll, C., 2015 Feb 1, In : Human Molecular Genetics. 24, 3, p. 875-90 16 p.

    Research output: Contribution to journalArticle

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

    Tina Rönn, Petr Volkov, Gillberg, L., Kokosar, M., Alexander Perfilyev, Jacobsen, A. L., Jørgensen, S. W., Brøns, C., Jansson, P-A., Karl-Fredrik Eriksson, Pedersen, O., Hansen, T., Leif Groop, Stener-Victorin, E., Allan Vaag, Emma A Nilsson & Charlotte Ling, 2015, In : Human Molecular Genetics. 24, 13, p. 3792-3813

    Research output: Contribution to journalArticle

  13. 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

  14. Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration.

    Wiesner, D., Sinniger, J., Henriques, A., Dieterlé, S., Müller, H-P., Rasche, V., Ferger, B., Dirrig-Grosch, S., Rana Soylu, Åsa Petersén, Walther, P., Linkus, B., Kassubek, J., Wong, P. C., Ludolph, A. C. & Dupuis, L., 2015, In : Human Molecular Genetics. 24, 8, p. 2228-2240

    Research output: Contribution to journalArticle

  15. 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

  16. WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

    Baranowska Körberg, I., Hofmeister, W., Markljung, E., Cao, J., Nilsson, D., Ludwig, M., Draaken, M., Holmdahl, G., Barker, G., Reutter, H., Vukojević, V., Clementson Kockum, C., Lundin, J., Lindstrand, A. & Nordenskjöld, A., 2015, In : Human Molecular Genetics. 24, 18, p. 5069-5078

    Research output: Contribution to journalArticle

  17. Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.

    Taneera, J., Fadista, J., Emma Ahlqvist, Grubich Atac, D., Ottosson Laakso, E., Claes Wollheim & Leif Groop, 2015, In : Human Molecular Genetics. 24, 7, p. 1945-1955

    Research output: Contribution to journalArticle

  18. 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

  19. 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

  20. 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

  21. Integrative Genome and Transcriptome Analyses Reveal Two Distinct Types of Ring Chromosome in Soft Tissue Sarcomas.

    Karolin Hansén Nord, Macchia, G., Tayebwa, J., Nilsson, J., Fredrik Vult von Steyern, Brosjö, O., Nils Mandahl & Fredrik Mertens, 2014, In : Human Molecular Genetics. 23, 4, p. 878-888

    Research output: Contribution to journalArticle

  22. 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

  23. 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

  24. Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.

    Sharoyko, V., Abels, M., Jiangming Sun, Nicholas, L., Ines Mollet, Stamenkovic, J., Göhring, I., Malmgren, S., Storm, P., Fadista, J., Peter Spégel, Metodiev, M. D., Larsson, N-G., Lena Eliasson, Nils Wierup & Hindrik Mulder, 2014, In : Human Molecular Genetics. 23, 21, p. 5733-5749

    Research output: Contribution to journalArticle

  25. TCF7L2 is a master regulator of insulin production and processing.

    Zhou, Y., Park, S-Y., Su, J., Bailey, K., Ottosson Laakso, E., Liliya Shcherbina, Nikolay Oskolkov, Enming Zhang, Thevenin, T., Fadista, J., Bennet, H., Petter Vikman, Nils Wierup, Malin Fex, Rung, J., Claes Wollheim, Nobrega, M., Erik Renström, Leif Groop & Ola Hansson, 2014, In : Human Molecular Genetics. 23, 24, p. 6419-6431

    Research output: Contribution to journalArticle

  26. Ubiquitin-specific protease-14 reduces cellular aggregates and protects against mutant huntingtin-induced cell degeneration: involvement of the proteasome and ER stress-activated kinase IRE1α

    Hyrskyluoto, A., Bruelle, C., Hult Lundh, S., Do, H. T., Kivinen, J., Rappou, E., Reijonen, S., Waltimo, T., Åsa Petersén, Lindholm, D. & Korhonen, L., 2014, In : Human Molecular Genetics. 23, 22, p. 5928-5939

    Research output: Contribution to journalArticle

  27. 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

  28. 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

  29. Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin

    Marshall, J. L., Oh, J., Chou, E., Lee, J. A., Johan Holmberg, Burkin, D. J. & Crosbie-Watson, R. H., 2014, In : Human Molecular Genetics. 24, 7, p. 2011-2022 ddu615.

    Research output: Contribution to journalArticle

  30. 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

  31. Role of WT1-ZNF224 interaction in the expression of apoptosis-regulating genes

    Montano, G., Cesaro, E., Fattore, L., Karina Vidovic, Palladino, C., Crescitelli, R., Izzo, P., Turco, M. C. & Costanzo, P., 2013, In : Human Molecular Genetics. 22, 9, p. 1771-1782

    Research output: Contribution to journalArticle

  32. Loci influencing blood pressure identified using a cardiovascular gene-centric array

    Ganesh, S. K., Tragante, V., Guo, W., Guo, Y., Lanktree, M. B., Smith, E. N., Johnson, T., Castillo, B. A., Barnard, J., Baumert, J., Chang, Y-P. C., Elbers, C. C., Farrall, M., Fischer, M. E., Franceschini, N., Gaunt, T. R., Gho, J. M. I. H., Gieger, C., Gong, Y., Isaacs, A. & 116 othersKleber, M. E., Leach, I. M., McDonough, C. W., Meijs, M. F. L., Olle Melander, Molony, C. M., Nolte, I. M., Padmanabhan, S., Price, T. S., Rajagopalan, R., Shaffer, J., Shah, S., Shen, H., Soranzo, N., van der Most, P. J., Van Iperen, E. P. A., Van Setten, J. A., Vonk, J. M., Zhang, L., Beitelshees, A. L., Berenson, G. S., Bhatt, D. L., Boer, J. M. A., Boerwinkle, E., Burkley, B., Burt, A., Chakravarti, A., Chen, W., Cooper-DeHoff, R. M., Curtis, S. P., Dreisbach, A., Duggan, D., Ehret, G. B., Fabsitz, R. R., Fornage, M., Fox, E., Furlong, C. E., Gansevoort, R. T., Hofker, M. H., Hovingh, G. K., Kirkland, S. A., Kottke-Marchant, K., Kutlar, A., LaCroix, A. Z., Langaee, T. Y., Li, Y. R., Lin, H., Liu, K., Maiwald, S., Malik, R., Murugesan, G., Newton-Cheh, C., OConnell, J. R., Onland-Moret, N. C., Ouwehand, W. H., Palmas, W., Penninx, B. W., Pepine, C. J., Pettinger, M., Polak, J. F., Ramachandran, V. S., Ranchalis, J., Redline, S., Ridker, P. M., Rose, L. M., Scharnag, H., Schork, N. J., Shimbo, D., Shuldiner, A. R., Srinivasan, S. R., Stolk, R. P., Taylor, H. A., Thorand, B., Trip, M. D., van Duijn, C. M., Verschuren, W. M., Wijmenga, C., Winkelmann, B. R., Wyatt, S., Young, J. H., Boehm, B. O., Caulfield, M. J., Chasman, D. I., Davidson, K. W., Doevendans, P. A., FitzGerald, G. A., Gums, J. G., Hakonarson, H., Hillege, H. L., Illig, T., Jarvik, G. P., Johnson, J. A., Kastelein, J. J. P., Koenig, W., Maerz, W., Mitchell, B. D., Murray, S. S., Oldehinkel, A. J., Rader, D. J., Reilly, M. P., Reiner, A. P., Schadt, E. E., Silverstein, R. L., Snieder, H., Stanton, A. V., Uitterlinden, A. G., van der Harst, P., van der Schouw, Y. T., Samani, N. J., Johnson, A. D., Munroe, P. B., de Bakker, P. I. W., Zhu, X., Levy, D., Keating, B. J. & Asselbergs, F. W., 2013, In : Human Molecular Genetics. 22, 8, p. 1663-1678

    Research output: Contribution to journalArticle

  33. 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

  34. Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.

    Vemula, S. R., Andreas Puschmann, Xiao, J., Rudzinska, M., Frei, K. P., Truong, D. D., Wszolek, Z. K. & LeDoux, M. S., 2013, In : Human Molecular Genetics. 22, 12, p. 2510-2519

    Research output: Contribution to journalArticle

  35. 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

  36. 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

  37. Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system

    Xilouri, M., Kyratzi, E., Pitychoutis, P. M., Papadopoulou-Daifoti, Z., Perier, C., Vila, M., Maniati, M., Ulusoy, A., Deniz Kirik, Park, D. S., Wada, K. & Stefanis, L., 2012, In : Human Molecular Genetics. 21, 4, p. 874-889

    Research output: Contribution to journalArticle

  38. 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

  39. Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.

    Zhou, Y., Enming Zhang, Berggreen, C., Jing, X., Osmark, P., Lang, S., Corrado Cilio, Olga Göransson, Leif Groop, Erik Renström & Ola Hansson, 2012, In : Human Molecular Genetics. 21, p. 196-207

    Research output: Contribution to journalArticle

  40. 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

  41. Phenotype mining in CNV carriers from a population cohort

    Pietiläinen, O. P. H., Rehnström, K., Jakkula, E., Service, S. K., Congdon, E., Carola Tilgmann, Hartikainen, A. L., Taanila, A., Heikura, U., Paunio, T., Ripatti, S., Jarvelin, M. R., Isohanni, M., Sabatti, C., Palotie, A., Freimer, N. B. & Peltonen, L., 2011 Jul, In : Human Molecular Genetics. 20, 13, p. 2686-2695 10 p., ddr162.

    Research output: Contribution to journalArticle

  42. Proteasome Inhibition Improves the Muscle of Laminin {alpha}2 Chain Deficient Mice.

    Carmignac, V., Quere, R. & Madeleine Durbeej-Hjalt, 2011, In : Human Molecular Genetics. 20, 3, p. 541-552

    Research output: Contribution to journalArticle

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease

    Gaughwin, P., Ciesla, M., Lahiri, N., Tabrizi, S. J., Brundin, P. & Maria Björkqvist, 2011, In : Human Molecular Genetics. 20, 11, p. 2225-2237

    Research output: Contribution to journalArticle

  49. 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

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