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  • 2013

    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

    LifeLines Cohort Study, Köttgen, A., Albrecht, E., Teumer, A., Vitart, V., Krumsiek, J., Hundertmark, C., Pistis, G., Ruggiero, D., O'Seaghdha, C. M., Haller, T., Yang, Q., Tanaka, T., Johnson, A. D., Kutalik, Z., Smith, A. V., Shi, J., Struchalin, M., Middelberg, R. P. S., Brown, M. J., & 31 othersGaffo, A. L., Pirastu, N., Li, G., Hayward, C., Zemunik, T., Huffman, J., Yengo, L., Zhao, J. H., Demirkan, A., Feitosa, M. F., Liu, X., Malerba, G., Lopez, L. M., van der Harst, P., Li, X., Kleber, M. E., Wild, S. H., Tenesa, A., Navarro, P., Hastie, N., Davies, G., Gow, A. J., Wilson, J. F., Farrington, S. M., Theodoratou, E., Polasek, O., Campbell, H., Rudan, I., Deary, I. J., Wright, A. F. & Dunlop, M. G., Feb 2013, In: Nature Genetics. 45, 2, p. 145-154 10 p.

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  • Age- And Sex-Related Variations in Platelet Count in Italy: A Proposal of Reference Ranges Based on 40987 Subjects' Data

    Biino, G., Santimone, I., Minelli, C., Sorice, R., Frongia, B., Traglia, M., Ulivi, S., Di Castelnuovo, A., Goegele, M., Nutile, T., Francavilla, M., Sala, C., Pirastu, N., Cerletti, C., Iacoviello, L., Gasparini, P., Toniolo, D., Ciullo, M., Pramstaller, P., Pirastu, M., & 2 othersde Gaetano, G. & Balduini, C. L., 31 Jan 2013, In: PLoS ONE. 8, 1, 7 p., 54289.

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  • 2012

    Seventy-five genetic loci influencing the human red blood cell

    van der Harst, P., Zhang, W., Mateo Leach, I., Rendon, A., Verweij, N., Sehmi, J., Paul, D. S., Elling, U., Allayee, H., Li, X., Radhakrishnan, A., Tan, S-T., Voss, K., Weichenberger, C. X., Albers, C. A., Al-Hussani, A., Asselbergs, F. W., Ciullo, M., Danjou, F., Dina, C., & 175 othersEsko, T., Evans, D. M., Franke, L., Gögele, M., Hartiala, J., Hersch, M., Holm, H., Hottenga, J-J., Kanoni, S., Kleber, M. E., Lagou, V., Langenberg, C., Lopez, L. M., Lyytikäinen, L-P., Melander, O., Murgia, F., Nolte, I. M., O'Reilly, P. F., Padmanabhan, S., Parsa, A., Pirastu, N., Porcu, E., Portas, L., Prokopenko, I., Ried, J. S., Shin, S-Y., Tang, C. S., Teumer, A., Traglia, M., Ulivi, S., Westra, H-J., Yang, J., Zhao, J. H., Anni, F., Abdellaoui, A., Attwood, A., Balkau, B., Bandinelli, S., Bastardot, F., Benyamin, B., Boehm, B. O., Cookson, W. O., Das, D., de Bakker, P. I. W., de Boer, R. A., de Geus, E. J. C., de Moor, M. H., Dimitriou, M., Domingues, F. S., Döring, A., Engström, G., Eyjolfsson, G. I., Ferrucci, L., Fischer, K., Galanello, R., Garner, S. F., Genser, B., Gibson, Q. D., Girotto, G., Gudbjartsson, D. F., Harris, S. E., Hartikainen, A-L., Hastie, C. E., Hedblad, B., Illig, T., Jolley, J., Kähönen, M., Kema, I. P., Kemp, J. P., Liang, L., Lloyd-Jones, H., Loos, R. J. F., Meacham, S., Medland, S. E., Meisinger, C., Memari, Y., Mihailov, E., Miller, K., Moffatt, M. F., Nauck, M., Novatchkova, M., Nutile, T., Olafsson, I., Onundarson, P. T., Parracciani, D., Penninx, B. W., Perseu, L., Piga, A., Pistis, G., Pouta, A., Puc, U., Raitakari, O., Ring, S. M., Robino, A., Ruggiero, D., Ruokonen, A., Saint-Pierre, A., Sala, C., Salumets, A., Sambrook, J., Schepers, H., Schmidt, C. O., Silljé, H. H. W., Sladek, R., Smit, J. H., Starr, J. M., Stephens, J., Sulem, P., Tanaka, T., Thorsteinsdottir, U., Tragante, V., van Gilst, W. H., van Pelt, L. J., van Veldhuisen, D. J., Völker, U., Whitfield, J. B., Willemsen, G., Winkelmann, B. R., Wirnsberger, G., Algra, A., Cucca, F., d'Adamo, A. P., Danesh, J., Deary, I. J., Dominiczak, A. F., Elliott, P., Fortina, P., Froguel, P., Gasparini, P., Greinacher, A., Hazen, S. L., Jarvelin, M-R., Khaw, K. T., Lehtimäki, T., Maerz, W., Martin, N. G., Metspalu, A., Mitchell, B. D., Montgomery, G. W., Moore, C., Navis, G., Pirastu, M., Pramstaller, P. P., Ramirez-Solis, R., Schadt, E., Scott, J., Shuldiner, A. R., Smith, G. D., Smith, J. G., Snieder, H., Sorice, R., Spector, T. D., Stefansson, K., Stumvoll, M., Tang, W. H. W., Toniolo, D., Tönjes, A., Visscher, P. M., Vollenweider, P., Wareham, N. J., Wolffenbuttel, B. H. R., Boomsma, D. I., Beckmann, J. S., Dedoussis, G. V., Deloukas, P., Ferreira, M. A., Sanna, S., Uda, M., Hicks, A. A., Penninger, J. M., Gieger, C., Kooner, J. S., Ouwehand, W. H., Soranzo, N. & Chambers, J. C., 20 Dec 2012, In: Nature. 492, 7429, p. 369-75 7 p.

    Research output: Contribution to journalArticlepeer-review

  • A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site

    Nürnberg, S. T., Rendon, A., Smethurst, P. A., Paul, D. S., Voss, K., Thon, J. N., Lloyd-Jones, H., Sambrook, J. G., Tijssen, M. R., Italiano, J. E., Deloukas, P., Gottgens, B., Soranzo, N., Ouwehand, W. H., HaemGen Consortium & Pirastu, N., 6 Dec 2012, In: Blood. 120, 24, p. 4859-68 10 p.

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  • Genome-wide meta-analysis of common variant differences between men and women

    Wellcome Trust Case Control Consortium, Boraska, V., Jerončić, A., Colonna, V., Southam, L., Nyholt, D. R., Rayner, N. W., Perry, J. R. B., Toniolo, D., Albrecht, E., Ang, W., Bandinelli, S., Barbalic, M., Barroso, I., Beckmann, J. S., Biffar, R., Boomsma, D., Campbell, H., Corre, T., Erdmann, J., & 31 othersEsko, T., Fischer, K., Franceschini, N., Frayling, T. M., Girotto, G., Gonzalez, J. R., Harris, T. B., Heath, A. C., Heid, I. M., Hoffmann, W., Hofman, A., Horikoshi, M., Zhao, J. H., Jackson, A. U., Hottenga, J-J., Jula, A., Kähönen, M., Khaw, K-T., Kiemeney, L. A., Klopp, N., Kutalik, Z., Lagou, V., Launer, L. J., Lehtimäki, T., Lemire, M., Pirastu, N., Wright, A. F., Zgaga, L., Hayward, C., Wilson, J. F. & Rudan, I., Nov 2012, In: Human Molecular Genetics. 21, 21, p. 4805-15 11 p.

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  • Genetics of Food Preferences: A First View from Silk Road Populations

    Pirastu, N., Robino, A., Lanzara, C., Athanasakis, E., Esposito, L., Tepper, B. J. & Gasparini, P., 13 Aug 2012, In: Journal of food science. 77, 12, p. S413-S418 6 p.

    Research output: Contribution to journalArticlepeer-review

  • Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations

    KidneyGen Consortium, The CKDGen Consortium, The GUGC Consortium & Pirastu, N., Aug 2012, In: Nature Genetics. 44, 8, p. 904-909 6 p.

    Research output: Contribution to journalArticlepeer-review

  • Evidence of Inbreeding Depression on Human Height

    on behalf of the ROHgen Consortium, McQuillan, R., Eklund, N., Pirastu, N., Kuningas, M., McEvoy, B. P., Esko, T., Corre, T., Davies, G., Kaakinen, M., Lyytikäinen, L-P., Kristiansson, K., Havulinna, A. S., Gögele, M., Vitart, V., Tenesa, A., Aulchenko, Y., Hayward, C., Johansson, A., Boban, M., & 31 othersUlivi, S., Robino, A., Boraska, V., Igl, W., Wild, S. H., Zgaga, L., Amin, N., Theodoratou, E., Polašek, O., Girotto, G., Lopez, L. M., Sala, C., Lahti, J., Laatikainen, T., Prokopenko, I., Kals, M., Viikari, J., Yang, J., Pouta, A., Estrada, K., Starr, J. M., Farrington, S. M., Campbell, H., Porteous, D., Hastie, N. D., Wright, A. F., Dunlop, M., Rudan, I., Deary, I. J., Visscher, P. M. & Wilson, J. F., 2012, In: PLoS Genetics. 8, 7, e1002655.

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  • 2011

    New gene functions in megakaryopoiesis and platelet formation

    Gieger, C., Radhakrishnan, A., Cvejic, A., Tang, W., Porcu, E., Pistis, G., Serbanovic-Canic, J., Elling, U., Goodall, A. H., Labrune, Y., Lopez, L. M., Maegi, R., Meacham, S., Okada, Y., Pirastu, N., Sorice, R., Teumer, A., Voss, K., Zhang, W., Ramirez-Solis, R., & 143 othersBis, J. C., Ellinghaus, D., Goegele, M., Hottenga, J-J., Langenberg, C., Kovacs, P., O'Reilly, P. F., Shin, S-Y., Esko, T., Hartiala, J., Kanoni, S., Murgia, F., Parsa, A., Stephens, J., van der Harst, P., van der Schoot, C. E., Allayee, H., Attwood, A., Balkau, B., Bastardot, F., Basu, S., Baumeister, S. E., Biino, G., Bomba, L., Bonnefond, A., Cambien, F., Chambers, J. C., Cucca, F., D'Adamo, P., Davies, G., de Boer, R. A., de Geus, E. J. C., Doering, A., Elliott, P., Erdmann, J., Evans, D. M., Falchi, M., Feng, W., Folsom, A. R., Frazer, I. H., Gibson, Q. D., Glazer, N. L., Hammond, C., Hartikainen, A-L., Heckbert, S. R., Hengstenberg, C., Hersch, M., Illig, T., Loos, R. J. F., Jolley, J., Khaw, K. T., Kuehnel, B., Kyrtsonis, M-C., Lagou, V., Lloyd-Jones, H., Lumley, T., Mangino, M., Maschio, A., Leach, I. M., McKnight, B., Memari, Y., Mitchell, B. D., Montgomery, G. W., Nakamura, Y., Nauck, M., Navis, G., Noethlings, U., Nolte, I. M., Porteous, D. J., Pouta, A., Pramstaller, P. P., Pullat, J., Ring, S. M., Rotter, J. I., Ruggiero, D., Ruokonen, A., Sala, C., Samani, N. J., Sambrook, J., Schlessinger, D., Schreiber, S., Schunkert, H., Scott, J., Smith, N. L., Snieder, H., Starr, J., Stumvoll, M., Takahashi, A., Tang, W. H. W., Taylor, K., Tenesa, A., Thein, S. L., Toenjes, A., Uda, M., Ulivi, S., van Veldhuisen, D. J., Visscher, P. M., Voelker, U., Wichmann, H-E., Wiggins, K. L., Willemsen, G., Yang, T-P., Zhao, J. H., Zitting, P., Bradley, J. R., Dedoussis, G. V., Gasparini, P., Hazen, S. L., Metspalu, A., Pirastu, M., Shuldiner, A. R., van Pelt, L. J., Zwaginga, J-J., Boomsma, D. I., Deary, I. J., Franke, A., Froguel, P., Ganesh, S. K., Jarvelin, M-R., Martin, N. G., Meisinger, C., Psaty, B. M., Spector, T. D., Wareham, N. J., Akkerman, J-W. N., Ciullo, M., Deloukas, P., Greinacher, A., Jupe, S., Kamatani, N., Khadake, J., Kooner, J. S., Penninger, J., Prokopenko, I., Stemple, D., Toniolo, D., Wernisch, L., Sanna, S., Hicks, A. A., Rendon, A., Ferreira, M. A., Ouwehand, W. H. & Soranzo, N., 8 Dec 2011, In: Nature. 480, 7376, p. 201-208 8 p.

    Research output: Contribution to journalArticlepeer-review

  • Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

    AortaGen Consortium, CardioGram, KidneyGen Consortium, CKDGen Consortium, CHARGE Consortium Heart Failure, EchoGen Consortium, Cardiogenics Consortium, LifeLines Cohort Study, Wain, L. V., Verwoert, G. C., O'Reilly, P. F., Shi, G., Johnson, T., Johnson, A. D., Bochud, M., Rice, K. M., Henneman, P., Smith, A. V., Ehret, G. B., Amin, N., Larson, M. G., Mooser, V., Hadley, D., Doerr, M., Bis, J. C., Aspelund, T., Esko, T., & 31 othersJanssens, A. C. J. W., Zhao, J. H., Heath, S., Laan, M., Fu, J., Pistis, G., Luan, J., Arora, P., Lucas, G., Pirastu, N., Pichler, I., Jackson, A. U., Webster, R. J., Zhang, F., Peden, J. F., Schmidt, H., Tanaka, T., Campbell, H., Igl, W., Milaneschi, Y., Hottenga, J-J., Vitart, V., Lopez, L. M., Navarro, P., Wild, S. H., Davies, G., Starr, J., Rudan, I., Hayward, C., Deary, I. J. & Wilson, J. F., Oct 2011, In: Nature Genetics. 43, 10, p. 1005-11 7 p.

    Research output: Contribution to journalArticlepeer-review

  • Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road

    Girotto, G., Pirastu, N., Gasparini, A., D'Adamo, P. & Gasparini, P., 29 Sept 2011, In: Audiological Medicine. 9, 4, p. 135-140 6 p.

    Research output: Contribution to journalArticlepeer-review

  • A strategy analysis for genetic association studies with known inbreeding

    Cabras, S., Eugenia Castellanos, M., Biino, G., Persico, I., Sassu, A., Casula, L., del Giacco, S., Bertolino, F., Pirastu, M. & Pirastu, N., 18 Jul 2011, In: BMC Genetics. 12, 12 p., 63.

    Research output: Contribution to journalArticlepeer-review

  • Multiple Loci Are Associated with White Blood Cell Phenotypes

    Nalls, M. A., Couper, D. J., Tanaka, T., van Rooij, F. J. A., Chen, M-H., Smith, A. V., Toniolo, D., Zakai, N. A., Yang, Q., Greinacher, A., Wood, A. R., Garcia, M., Gasparini, P., Liu, Y., Lumley, T., Folsom, A. R., Reiner, A. P., Gieger, C., Lagou, V., Felix, J. F., & 73 othersVoelzke, H., Gouskova, N. A., Biffi, A., Doering, A., Voelker, U., Chong, S., Wiggins, K. L., Rendon, A., Dehghan, A., Moore, M., Taylor, K., Wilson, J. G., Lettre, G., Hofman, A., Bis, J. C., Pirastu, N., Fox, C. S., Meisinger, C., Sambrook, J., Arepalli, S., Nauck, M., Prokisch, H., Stephens, J., Glazer, N. L., Cupples, L. A., Okada, Y., Takahashi, A., Kamatani, Y., Matsuda, K., Tsunoda, T., Tanaka, T., Kubo, M., Nakamura, Y., Yamamoto, K., Kamatani, N., Stumvoll, M., Toenjes, A., Prokopenko, I., Illig, T., Patel, K. V., Garner, S. F., Kuhnel, B., Mangino, M., Oostra, B. A., Thein, S. L., Coresh, J., Wichmann, H. -E., Menzel, S., Lin, J., Pistis, G., Uitterlinden, A. G., Spector, T. D., Teumer, A., Eiriksdottir, G., Gudnason, V., Bandinelli, S., Frayling, T. M., Chakravarti, A., van Duijn, C. M., Melzer, D., Ouwehand, W. H., Levy, D., Boerwinkle, E., Singleton, A. B., Hernandez, D. G., Longo, D. L., Soranzo, N., Witteman, J. C. M., Psaty, B. M., Ferrucci, L., Harris, T. B., O'Donnell, C. J. & Ganesh, S. K., 30 Jun 2011, In: PLoS Genetics. 7, 6, 16 p., 1002113.

    Research output: Contribution to journalArticlepeer-review

  • Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

    Girotto, G., Pirastu, N., Sorice, R., Biino, G., Campbell, H., d'Adamo, A. P., Hastie, N. D., Nutile, T., Polasek, O., Portas, L., Rudan, I., Ulivi, S., Zemunik, T., Wright, A. F., Ciullo, M., Hayward, C., Pirastu, M. & Gasparini, P., 2011, In: Journal of Medical Genetics. 48, 6, p. 369-74 6 p.

    Research output: Contribution to journalArticlepeer-review

  • 2010

    A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family

    Faletra, F., Pirastu, N., Athanasakis, E., Somaschini, A., Pianigiani, G. & Gasparini, P., 18 Nov 2010, In: Audiological Medicine. 9, 1, p. 4-7 4 p.

    Research output: Contribution to journalArticlepeer-review

  • 2009

    Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

    Mocci, E., Concas, M. P., Fanciulli, M., Pirastu, N., Adamo, M., Cabras, V., Fraumene, C., Persico, I., Sassu, A., Picciau, A., Prodi, D. A., Serra, D., Biino, G., Pirastu, M. & Angius, A., 28 Aug 2009, In: BMC Medical Genetics. 10, 13 p., 81.

    Research output: Contribution to journalArticlepeer-review

  • High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

    Pistis, G., Piras, I., Pirastu, N., Persico, I., Sassu, A., Picciau, A., Prodi, D., Fraumene, C., Mocci, E., Manias, M. T., Atzeni, R., Cosso, M., Pirastu, M. & Angius, A., 27 Feb 2009, In: PLoS ONE. 4, 2, 12 p., 4654.

    Research output: Contribution to journalArticlepeer-review

  • 2008

    EDA2R is associated with androgenetic alopecia

    Prodi, D. A., Pirastu, N., Maninchedda, G., Sassu, A., Picciau, A., Palmas, M. A., Mossa, A., Persico, I., Adamo, M., Angius, A. & Pirastu, M., 1 Sept 2008, In: Journal of Investigative Dermatology. 128, 9, p. 2268-2270 3 p.

    Research output: Contribution to journalArticlepeer-review

  • 2007

    Patterns of linkage disequilibrium between SNPs in a sardinian population isolate and the selection of markers for association studies

    Angius, A., Hyland, F. C. L., Persico, I., Pirastu, N., Woodage, T., Pirastu, M. & De La Vega, F. M., Oct 2007, In: Human heredity. 65, 1, p. 9-22 14 p.

    Research output: Contribution to journalArticlepeer-review