Human Molecular Genetics, 0964-6906

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  1. 2019
  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. 2018
  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. 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

  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. 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

  8. 2017
  9. 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

  10. 2016
  11. 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

  12. 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

  13. 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

  14. 2015
  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 2014
  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 2013
  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 2012
  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 2011
  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. 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

  54. 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

  55. 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

  56. 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

  57. 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

  58. 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

  59. 2010
  60. 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

  61. 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

  62. 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

  63. 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

  64. Integrative genomics identifies DSCR1 (RCAN1) as a novel NFAT-dependent mediator of phenotypic modulation in vascular smooth muscle cells

    Lee, M. Y., Garvey, S. M., Baras, A. S., Lemmon, J. A., Maria Gomez, Bortz, P. D. S., Daum, G., LeBoeuf, R. C. & Wamhoff, B. R., 2010, In : Human Molecular Genetics. 19, 3, p. 468-479

    Research output: Contribution to journalArticle

  65. The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias

    Lilljebjörn, H., Soneson, C., Anna Andersson, Heldrup, J., Behrendtz, M., Kawamata, N., Ogawa, S., Koeffler, H. P., Felix Mitelman, Bertil Johansson, Fontes, M. & Thoas Fioretos, 2010, In : Human Molecular Genetics. 19, 16, p. 3150-3158

    Research output: Contribution to journalArticle

  66. The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.

    Kajsa Paulsson, Haferlach, C., Fonatsch, C., Hagemeijer, A., Klarskov Andersen, M., Slovak, M. L. & Bertil Johansson, 2010, In : Human Molecular Genetics. 19, p. 1507-1514

    Research output: Contribution to journalArticle

  67. 2009
  68. 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

  69. 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

  70. Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.

    Ruben Smith, Karl Bacos, Fedele, V., Soulet, D., Jones, H., Obermüller, S., Lindqvist, A., Maria Björkqvist, Klein, P., Patrik Önnerfjord, Brundin, P., Hindrik Mulder & Jia-Yi Li, 2009, In : Human Molecular Genetics. 18, 20, p. 3942-3954

    Research output: Contribution to journalArticle

  71. No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease

    Farfel-Becker, T., Vitner, E., Dekel, H., Leshem, N., Berglin-Enquist, I., Stefan Karlsson & Futerman, A. H., 2009, In : Human Molecular Genetics. 18, 8, p. 1482-1488

    Research output: Contribution to journalArticle

  72. The DNA methylome of pediatric acute lymphoblastic leukemia.

    Josef Davidsson, Lilljebjörn, H., Anna Andersson, Srinivas Veerla, Heldrup, J., Behrendtz, M., Thoas Fioretos & Bertil Johansson, 2009, In : Human Molecular Genetics. Aug 13, p. 4054-4065

    Research output: Contribution to journalArticle

  73. The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

    Beer, N. L., Tribble, N. D., McCulloch, L. J., Roos, C., Johnson, P. R. V., Marju Orho-Melander & Gloyn, A. L., 2009, In : Human Molecular Genetics. 18, 21, p. 4081-4088

    Research output: Contribution to journalArticle

  74. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype

    Rueda, B., Broen, J., Simeon, C., Hesselstrand, R., Diaz, B., Suarez, H., Ortego-Centeno, N., Riemekasten, G., Fonollosa, V., Vonk, M. C., van den Hoogen, F. H. J., Sanchez-Roman, J., Aguirre-Zamorano, M. A., Garcia-Portales, R., Pros, A., Camps, M. T., Gonzalez-Gay, M. A., Coenen, M. J. H., Airo, P., Beretta, L. & 6 othersScorza, R., van Laar, J., Gonzalez-Escribano, M. F., Nelson, J. L., Radstake, T. R. D. J. & Martin, J., 2009, In : Human Molecular Genetics. 18, 11, p. 2071-2077

    Research output: Contribution to journalArticle

  75. The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

    Choquet, H., Cavalcanti-Proenca, C., Lecoeur, C., Dina, C., Cauchi, S., Vaxillaire, M., Hadjadj, S., Horber, F., Potoczna, N., Charpentier, G., Ruiz, J., Hercberg, S., Maimaitiming, S., Roussel, R., Boenhnke, M., Jackson, A. U., Patsch, W., Krempler, F., Voight, B. F., Altshuler, D. & 7 othersLeif Groop, Thorleifsson, G., Steinthorsdottir, V., Stefansson, K., Balkau, B., Froguel, P. & Meyre, D., 2009, In : Human Molecular Genetics. 18, 13, p. 2495-2501

    Research output: Contribution to journalArticle

  76. Tissue-specific alternative splicing of TCF7L2

    Prokunina-Olsson, L., Welch, C., Hansson, O., Adhikari, N., Scott, L. J., Usher, N., Tong, M., Sprau, A., Swift, A., Bonnycastle, L. L., Erdos, M. R., He, Z., Saxena, R., Harmon, B., Kotova, O., Hoffman, E. P., Altshuler, D., Groop, L., Boehnke, M., Collins, F. S. & 1 othersHall, J. L., 2009, In : Human Molecular Genetics. 18, 20, p. 3795-3804

    Research output: Contribution to journalArticle

  77. 2008
  78. 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

  79. 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

  80. Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis

    Venugopalan, S. R., Amen, M. A., Wang, J., Wong, L., Cavender, A. C., D'Souza, R. N., Mikael Åkerlund, Brody, S. L., Hjalt, T. & Amendt, B. A., 2008, In : Human Molecular Genetics. 17, 23, p. 3643-3654

    Research output: Contribution to journalArticle

  81. Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males

    Bode, F. J., Stephan, M., Suhling, H., Pabst, R., Straub, R. H., Raber, K. A., Bonin, M., Nguyen, H. P., Riess, O., Bauer, A., Sjöberg, C., Åsa Petersén & von Hoersten, S., 2008, In : Human Molecular Genetics. 17, 17, p. 2595-2609

    Research output: Contribution to journalArticle

  82. Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure

    Cristiano Fava, Montagnana, M., Nilsson, L., Burri, P., Almgren, P., Jonsson, A., Wanby, P., Lippi, G., Minuz, P., Hulthén, L., Aurell, M. & Olle Melander, 2008, In : Human Molecular Genetics. 17, 3, p. 413-418

    Research output: Contribution to journalArticle

  83. 2007
  84. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

    Pirog-Garcia, K. A., Meadows, R. S., Knowles, L., Heinegård, D., Thornton, D. J., Kadler, K. E., Boot-Handford, R. P. & Briggs, M. D., 2007, In : Human Molecular Genetics. 16, 17, p. 2072-2088

    Research output: Contribution to journalArticle

  85. 2006
  86. 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

  87. MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene

    Storlazzi, CT., Fioretos, T., Surace, C., Lonoce, A., Mastrorilli, A., Strömbeck, B., D'Addabbo, P., Iacovelli, F., Minervini, C., Aventin, A., Dastugue, N., Fonatsch, C., Hagemeijer, A., Jotterand, M., Muhlematter, D., Lafage-Pochitaloff, M., Nguyen-Khac, F., Schoch, C., Slovak, ML., Smith, A. & 4 othersSole, F., Van Roy, N., Bertil Johansson & Rocchi, M., 2006, In : Human Molecular Genetics. 15, 6, p. 933-942

    Research output: Contribution to journalArticle

  88. Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's disease

    Maria Björkqvist, Åsa Petersén, Karl Bacos, Isaacs, J., Norlén, P., Gil, J., Popovic, N., Sundler, F., Bates, GP., Tabrizi, SJ., Brundin, P. & Hindrik Mulder, 2006, In : Human Molecular Genetics. 15, 10, p. 1713-1721

    Research output: Contribution to journalArticle

  89. 2005
  90. Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22

    Parsons, C. A., Mroczkowski, H. J., Fiona E A McGuigan, Albagha, O. M. E., Manolagas, S., Reid, D. M., Ralston, S. H. & Shmookler Reis, R. J., 2005 Nov 1, In : Human Molecular Genetics. 14, 21, p. 3141-8 8 p.

    Research output: Contribution to journalArticle

  91. 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

  92. Orexin loss in Huntington's disease.

    Åsa Petersén, Gil, J., Maat-Schieman, M. L. C., Maria Björkqvist, Tanila, H., Araújo, I. M., Ruben Smith, Popovic, N., Nils Wierup, Norlén, P., Jia-Yi Li, Roos, R. A., Sundler, F., Hindrik Mulder & Brundin, P., 2005, In : Human Molecular Genetics. 14, 1, p. 39-47

    Research output: Contribution to journalArticle

  93. Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

    Nuber, U., Kriaucionis, S., Roloff, T. C., Guy, J., Selfridge, J., Steinhoff, C., Schulz, R., Lipkowitz, B., Ropers, H. H., Holmes, M. C. & Bird, A., 2005, In : Human Molecular Genetics. 14, 15, p. 2247-2256

    Research output: Contribution to journalArticle

  94. 2004
  95. Laminin {alpha}1 chain reduces muscular dystrophy in laminin {alpha}2 chain deficient mice.

    Kinga Gawlik, Miyagoe-Suzuki, Y., Ekblom, P., Takeda, S. & Madeleine Durbeej-Hjalt, 2004, In : Human Molecular Genetics. 13, 16, p. 1775-1784

    Research output: Contribution to journalArticle

  96. Meta-analysis of genome-wide scans for hypertension and blood pressure in Caucasians shows evidence of susceptibility regions on chromosomes 2 and 3.

    Koivukoski, L., Fisher, S. A., Kanninen, T., Lewis, C. M., Wowern, F., Hunt, S., Kardia, S. L. R., Levy, D., Perola, M., Rankinen, T., Rao, D. C., Rice, T., Thiel, B. A. & Olle Melander, 2004, In : Human Molecular Genetics. 13, 19, p. 2325-2332

    Research output: Contribution to journalArticle

  97. 2003
  98. 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

  99. 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

  100. 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

  101. 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

  102. High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypes

    Ribbhammar, U., Flornes, L., Backdahl, L., Holger Luthman, Fossum, S. & Lorentzen, JC., 2003, In : Human Molecular Genetics. 12, 17, p. 2087-2096

    Research output: Contribution to journalArticle

  103. 2002
  104. Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women

    Albagha, O. M. E., Tasker, P. N., Fiona E A McGuigan, Reid, D. M. & Ralston, S. H., 2002 Sep 15, In : Human Molecular Genetics. 11, 19, p. 2289-95

    Research output: Contribution to journalArticle

  105. 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

  106. Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease.

    Lotharius, J. & Brundin, P., 2002, In : Human Molecular Genetics. 11, 20, p. 2395-2407

    Research output: Contribution to journalReview article

  107. 2001
  108. 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

  109. 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

  110. 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

  111. 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

  112. The mutational spectrum of human malignant autosomal recessive osteopetrosis

    Sobacchi, C., Frattini, A., Orchard, P., Porras, O., Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I., Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I., Etzioni, A., Fasth, A., Fisher, A., Gerritsen, B., Gulino, V., Horwitz, E., Klamroth, V., Lanino, E. & 13 othersMirolo, M., Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, LD., Ochs, HD., Furga, AS., Valiaho, J., van Hove, JLK., Mauno Vihinen, Vujic, D., Vezzoni, P. & Villa, A., 2001, In : Human Molecular Genetics. 10, 17, p. 1767-1773

    Research output: Contribution to journalArticle

  113. X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

    Sudbrak, R., Wieczorek, G., Nuber, U., Mann, W., Kirchner, R., Erdogan, F., Brown, C. J., Wohrle, D., Sterk, P., Kalscheuer, V. M., Berger, W., Lehrach, H. & Ropers, H-H., 2001, In : Human Molecular Genetics. 10, 1, p. 77-83

    Research output: Contribution to journalArticle

  114. 1999
  115. 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

  116. 1995
  117. 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

  118. IDENTIFICATION OF BTK MUTATIONS IN 20 UNRELATED PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA (XLA)

    JIN, H., WEBSTER, ADB., Mauno Vihinen, SIDERAS, P., VORECHOVSKY, I., HAMMARSTROM, L., BERNATOWSKAMATUSZKIEWICZ, E., SMITH, CIE., BOBROW, M. & VETRIE, D., 1995, In : Human Molecular Genetics. 4, 4, p. 693-700

    Research output: Contribution to journalArticle