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Publications 2006 2019

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2019

Bayesian meta-analysis across genome-wide association studies of diverse phenotypes

Trochet, H., Pirinen, M., Band, G., Jostins, L., McVean, G. & Spencer, C. C. A., Jul 2019, In : Genetic Epidemiology. 43, 5, p. 532-547 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland

Kerminen, S., Martin, A. R., Koskela, J., Ruotsalainen, S. E., Havulinna, A. S., Surakka, I., Palotie, A., Perola, M., Salomaa, V., Daly, M. J., Ripatti, S. & Pirinen, M., 6 Jun 2019, In : American Journal of Human Genetics. 104, 6, p. 1169-1181 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Healthcare costs and outcomes in adult patients with juvenile idiopathic arthritis: a population-based study

Mars, N. J., Kerola, A. M., Kauppi, M. J., Pirinen, M., Elonheimo, O. & Sokka-Isler, T., 4 Mar 2019, In : Scandinavian Journal of Rheumatology. 48, 2, p. 114-120 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Patients with rheumatic diseases share similar patterns of healthcare resource utilization

Mars, NJ., Kerola, AM., Kauppi, MJ., Pirinen, M., Elonheimo, O. & Sokka-Isler, T., 2019, In : Scandinavian Journal of Rheumatology. 48, 4, p. 300-307 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Variation in neurosurgical management of traumatic brain injury: a survey in 68 centers participating in the CENTER-TBI study

van Essen, T. A., den Boogert, H. F., Cnossen, M. C., CENTER-TBI Investigators Partici, Kaukonen, M., Kivisaari, R., Piippo-Karjalainen, A., Raj, R., Tanskanen, P., Palotie, A., Pirinen, M. & Ripatti, S., Mar 2019, In : Acta Neurochirurgica. 161, 3, p. 435-449 15 p.

Research output: Contribution to journalArticleScientificpeer-review

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2018

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Psychiat Genomics Consortium, Psychiat Genomics Consortium, Psychosis Endophenotypes Inter, Wellcome Trust Case Control, Ruderfer, D. M., Daly, M. J., Eriksson, J., Karjalainen, J., Lonnqvist, J., Meier, S., Neale, B. M., Palotie, A., Paunio, T., Pietilainen, O., Pirinen, M., Rautanen, A. & Suvisaari, J., 14 Jun 2018, In : Cell. 173, 7, p. 1705–1715.e1–e12 27 p., ARTN 1715.e16.

Research output: Contribution to journalArticleScientificpeer-review

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

Martin, A. R., Karczewski, K. J., Kerminen, S., Kurki, M. I., Sarin, A-P., Artomov, M., Eriksson, J. G., Esko, T., Genovese, G., Havulinna, A. S., Kaprio, J., Konradi, A., Korányi, L., Kostareva, A., Männikkö, M., Metspalu, A., Perola, M., Prasad, R. B., Raitakari, O., Rotar, O. & 7 othersSalomaa, V., Groop, L., Palotie, A., Neale, B. M., Ripatti, S., Pirinen, M. & Daly, M. J., 3 May 2018, In : American Journal of Human Genetics. 102, 5, p. 760-775 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Int IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-Genes Consortium, Rivas, M. A., Koskela, J., Pirinen, M., Kurki, M., Saavalainen, P., Farkkila, M., Kontula, K., Palotie, A. & Daly, M. J., May 2018, In : PLoS Genetics. 14, 5, 25 p., 1007329.

Research output: Contribution to journalArticleScientificpeer-review

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Risk of nontyphoidal Salmonella bacteraemia in African children is modified by STAT4

Gilchrist, J. J., Rautanen, A., Fairfax, B. P., Mills, T. C., Naranbhai, V., Trochet, H., Pirinen, M., Muthumbi, E., Mwarumba, S., Njuguna, P., Mturi, N., Msefula, C. L., Gondwe, E. N., MacLennan, J. M., Chapman, S. J., Molyneux, M. E., Knight, J. C., Spencer, C. C. A., Williams, T. N., MacLennan, C. A. & 2 othersScott, J. A. G. & Hill, A. V. S., 9 Mar 2018, In : Nature Communications. 9, 11 p., 1014.

Research output: Contribution to journalArticleScientificpeer-review

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Tumour budding in oral squamous cell carcinoma: a meta-analysis

Almangush, A., Pirinen, M., Heikkinen, I., Mäkitie, A. A., Salo, T. & Leivo, I., 20 Feb 2018, In : British Journal of Cancer. 118, 4, p. 577-586 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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2017

biMM: efficient estimation of genetic variances and covariances for cohorts with high-dimensional phenotype measurements

Pirinen, M., Benner, C., Marttinen, P., Jarvelin, M-R., Rivas, M. A. & Ripatti, S., 1 Aug 2017, In : Bioinformatics. 33, 15, p. 2405-2407 3 p.

Research output: Contribution to journalArticleScientificpeer-review

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Fine-Scale Genetic Structure in Finland

Kerminen, S., Havulinna, A. S., Hellenthal, G., Martin, A. R., Sarin, A-P., Perola, M., Palotie, A., Salomaa, V., Daly, M. J., Ripatti, S. & Pirinen, M., Oct 2017, In : G3 - Genes genomes genetics. 7, 10, p. 3459-3468 10 p.

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Human genetic and metabolite variation reveals that methylthioadenosine is a prognostic biomarker and an inflammatory regulator in sepsis

Wang, L., Ko, E. R., Gilchrist, J. J., Pittman, K. J., Rautanen, A., Pirinen, M., Thompson, J. W., Dubois, L. G., Langley, R. J., Jaslow, S. L., Salinas, R. E., Rouse, D. C., Moseley, M. A., Mwarumba, S., Njuguna, P., Mturi, N., Williams, T. N., Scott, J. A. G., Hill, A. V. S., Woods, C. W. & 3 othersGinsburg, G. S., Tsalik, E. L. & Ko, D. C., Mar 2017, In : Science Advances. 3, 3, 14 p., 1602096.

Research output: Contribution to journalArticleScientificpeer-review

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Prospects of Fine-Mapping Trait-Associated Genomic Regions by Using Summary Statistics from Genome-wide Association Studies

Benner, C., Havulinna, A. S., Järvelin, M-R., Salomaa, V., Ripatti, S. & Pirinen, M., 5 Oct 2017, In : American Journal of Human Genetics. 101, 4, p. 539-551 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Variation in monitoring and treatment policies for intracranial hypertension in traumatic brain injury: a survey in 66 neurotrauma centers participating in the CENTER-TBI study

Cnossen, M. C., Huijben, J. A., van der Jagt, M., Volovici, V., van Essen, T., Polinder, S., Nelson, D., Ercole, A., Stocchetti, N., Citerio, G., Peul, W. C., Maas, A. I. R., Menon, D., Steyerberg, E. W., Lingsma, H. F., CENTER-TBI Investigators, Palotie, A., Pirinen, M., Raj, R. & Ripatti, S., 6 Sep 2017, In : Critical Care. 21, 12 p., 233.

Research output: Contribution to journalArticleScientificpeer-review

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Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

Chheda, H., Palta, P., Pirinen, M., McCarthy, S., Walter, K., Koskinen, S., Salomaa, V., Daly, M., Durbin, R., Palotie, A., Aittokallio, T., Ripatti, S. & Sequencing Initiative Suomi SISu P, Apr 2017, In : European Journal of Human Genetics. 25, 4, p. 477-484 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
2016

Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis

Sieberts, S. K., Zhu, F., Garcia-Garcia, J., Stahl, E., Pratap, A., Pandey, G., Pappas, D., Aguilar, D., Anton, B., Bonet, J., Eksi, R., Fornes, O., Guney, E., Li, H., Marin, M. A., Panwar, B., Planas-Iglesias, J., Poglayen, D., Cui, J., Falcao, A. O. & 31 othersSuver, C., Hoff, B., Balagurusamy, V. S. K., Dillenberger, D., Neto, E. C., Norman, T., Aittokallio, T., Ammad-ud-din, M., Azencott, C-A., Bellon, V., Boeva, V., Bunte, K., Chheda, H., Cheng, L., Corander, J., Dumontier, M., Goldenberg, A., Gopalacharyulu, P., Hajiloo, M., Hidru, D., Jaiswal, A., Kaski, S., Khalfaoui, B., Khan, S. A., Kramer, E. R., Marttinen, P., Pirinen, M., Saarela, J., Tang, J., Wennerberg, K. & Rheumatoid Arth Challenge, Aug 2016, In : Nature Communications. 7, 9 p., 12460.

Research output: Contribution to journalArticleScientificpeer-review

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FINEMAP: efficient variable selection using summary data from genome-wide association studies

Benner, C., Spencer, C. C. A., Havulinna, A. S., Salomaa, V., Ripatti, S. & Pirinen, M., 15 May 2016, In : Bioinformatics. 32, 10, p. 1493-1501 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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Genetic support for the causal role of insulin in coronary heart disease

Tikkanen, E., Pirinen, M., Sarin, A-P., Havulinna, A. S., Mannisto, S., Saltevo, J., Lokki, M-L., Sinisalo, J., Lundqvist, A., Jula, A., Salomaa, V. & Ripatti, S., 2016, In : Diabetologia. 59, 11, p. 2369-2377 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA

Kettunen, J., Demirkan, A., Wurtz, P., Draisma, H. H. M., Haller, T., Rawal, R., Vaarhorst, A., Kangas, A. J., Lyytikäinen, L-P., Pirinen, M., Pool, R., Sarin, A-P., Soininen, P., Tukiainen, T., Wang, Q., Tiainen, M., Tynkkynen, T., Amin, N., Zeller, T., Beekman, M. & 30 othersDeelen, J., van Dijk, K. W., Esko, T., Hottenga, J-J., van Leeuwen, E. M., Lehtimaki, T., Mihailov, E., Rose, R. J., de Craen, A. J. M., Gieger, C., Kahonen, M., Perola, M., Blankenberg, S., Savolainen, M. J., Verhoeven, A., Viikari, J., Willemsen, G., Boomsma, D. I., van Duijn, C. M., Eriksson, J., Jula, A., Jarvelin, M-R., Kaprio, J., Metspalu, A., Raitakari, O., Salomaa, V., Slagboom, P. E., Waldenberger, M., Ripatti, S. & Ala-Korpela, M., Mar 2016, In : Nature Communications. 7, 9 p., 11122.

Research output: Contribution to journalArticleScientificpeer-review

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metaCCA: summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis

Cichonska, A., Rousu, J., Marttinen, P., Kangas, A. J., Soininen, P., Lehtimaki, T., Raitakari, O. T., Jarvelin, M-R., Salomaa, V., Ala-Korpela, M., Ripatti, S. & Pirinen, M., 1 Jul 2016, In : Bioinformatics. 32, 13, p. 1981-1989 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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Multiple Output Regression with Latent Noise

Gillberg, J., Marttinen, P., Pirinen, M., Kangas, A. J., Soininen, P., Ali, M., Havulinna, A. S., Järvelin, M-R., Ala-Korpela, M. & Kaski, S., 1 Jan 2016, In : Journal of Machine Learning Research. 17, 1, p. 4170-4204 35 p.

Research output: Contribution to journalArticleScientificpeer-review

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The Contribution of GWAS Loci in Familial Dyslipidemias

Ripatti, P., Ramo, J. T., Soderlund, S., Surakka, I., Matikainen, N., Pirinen, M., Pajukanta, P., Sarin, A-P., Service, S. K., Laurila, P-P., Ehnholm, C., Salomaa, V., Wilson, R. K., Palotie, A., Freimer, N. B., Taskinen, M-R. & Ripatti, S., May 2016, In : PLoS Genetics. 12, 5, 14 p., 1006078.

Research output: Contribution to journalArticleScientificpeer-review

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2015

Assessing allele-specific expression across multiple tissues from RNA-seq read data

Pirinen, M., Lappalainen, T., Zaitlen, N. A., Dermitzakis, E. T., Donnelly, P., McCarthy, M. I., Rivas, M. A. & GTEx Consortium, 1 Aug 2015, In : Bioinformatics. 31, 15, p. 2497-2504 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., Ferreira, P. G., Smith, K. S., Zhang, R., Zhao, F., Banks, E., Poplin, R., Ruderfer, D. M., Purcell, S. M., Tukiainen, T., Minikel, E. V. & 19 othersStenson, P. D., Cooper, D. N., Huang, K. H., Sullivan, T. J., Nedzel, J., Bustamante, C. D., Li, J. B., Daly, M. J., Guigo, R., Donnelly, P., Ardlie, K., Sammeth, M., Dermitzakis, E. T., McCarthy, M. I., Montgomery, S. B., Lappalainen, T., MacArthur, D. G., GTEx Consortium & Geuvadis Consortium, 8 May 2015, In : Science. 348, 6235, p. 666-669 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST Elevation Myocardial Infarction and the Expression of DRAM2 in the Finnish Population

Salo, P. P., Vaara, S., Kettunen, J., Pirinen, M., Sarin, A-P., Huikuri, H., Karhunen, P. J., Eskola, M., Nikus, K., Lokki, M-L., Ripatti, S., Havulinna, A. S., Salomaa, V., Palotie, A., Nieminen, M. S., Sinisalo, J. & Perola, M., 28 Oct 2015, In : PLoS One. 10, 10, 16 p., 0140576.

Research output: Contribution to journalArticleScientificpeer-review

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The fine-scale genetic structure of the British population

Leslie, S., Winney, B., Hellenthal, G., Davison, D., Boumertit, A., Day, T., Hutnik, K., Royrvik, E. C., Cunliffe, B., Lawson, D. J., Falush, D., Freeman, C., Pirinen, M., Myers, S., Robinson, M., Donnelly, P., Bodmer, W., Wellcome Trust Case Control & Int Multiple Sclerosis Genetics, 19 Mar 2015, In : Nature. 519, 7543, p. 309-+ 24 p.

Research output: Contribution to journalArticleScientificpeer-review

The impact of low-frequency and rare variants on lipid levels

Surakka, I., Horikoshi, M., Magi, R., Sarin, A-P., Mahajan, A., Lagou, V., Marullo, L., Ferreira, T., Miraglio, B., Timonen, S., Kettunen, J., Pirinen, M., Karjalainen, J., Thorleifsson, G., Hagg, S., Hottenga, J-J., Isaacs, A., Ladenvall, C., Beekman, M., Esko, T. & 31 othersRied, J. S., Nelson, C. P., Willenborg, C., Gustafsson, S., Westra, H-J., Blades, M., de Craen, A. J. M., de Geus, E. J., Deelen, J., Grallert, H., Hamsten, A., Havulinna, A. S., Hengstenberg, C., Houwing-Duistermaat, J. J., Hypponen, E., Karssen, L. C., Lehtimaki, T., Lyssenko, V., Magnusson, P. K. E., Mihailov, E., Mpindi, J-P., Perola, M., Kaprio, J., Groop, L., Eriksson, J. G., Ikonen, E., Kallioniemi, O., Pietiainen, V., Palotie, A., Ripatti, S. & ENGAGE Consortium, Jun 2015, In : Nature Genetics. 47, 6, p. 589-597 9 p.

Research output: Contribution to journalArticleScientificpeer-review

The landscape of genomic imprinting across diverse adult human tissues

Baran, Y., Subramaniam, M., Biton, A., Tukiainen, T., Tsang, E. K., Rivas, M. A., Pirinen, M., Gutierrez-Arcelus, M., Smith, K. S., Kukurba, K. R., Zhang, R., Eng, C., Torgerson, D. G., Urbanek, C., Li, J. B., Rodriguez-Santana, J. R., Burchard, E. G., Seibold, M. A., MacArthur, D. G., Montgomery, S. B. & 3 othersZaitlen, N. A., Lappalainen, T. & GTEx Consortium, Jul 2015, In : Genome Research. 25, 7, p. 927-936 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2014

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Morris, D. W., Cormican, P., Kenny, E. M., O'Dushlaine, C. T., Perreault, L-P. L., Giannoulatou, E., Tropea, D., Maher, B. S., Wormley, B., Kelleher, E., Fahey, C., Molinos, I., Bellini, S., Pirinen, M., Strange, A., Freeman, C., Thiselton, D. L., Elves, R. L., Regan, R., Ennis, S. & 38 othersDinan, T. G., McDonald, C., Murphy, K. C., O'Callaghan, E., Waddington, J. L., Walsh, D., O'Donovan, M., Grozeva, D., Craddock, N., Stone, J., Scolnick, E., Purcell, S., Sklar, P., Coe, B., Eichler, E. E., Ophoff, R., Buizer, J., Szatkiewicz, J., Hultman, C., Sullivan, P., Gurling, H., Mcquillin, A., St Clair, D., Rees, E., Kirov, G., Walters, J., Blackwood, D., Johnstone, M., Donohoe, G., O'Neill, F. A., Kendler, K. S., Gill, M., Riley, B. P., Spencer, C. C. A., Corvin, A., Consortium, I. S., Consortium, SGENE. & Consor, W. T. C. C., 15 Jun 2014, In : Human Molecular Genetics. 23, 12, p. 3316-3326 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Assessing multivariate gene-metabolome associations with rare variants using Bayesian reduced rank regression

Marttinen, P., Pirinen, M., Sarin, A-P., Gillberg, J., Kettunen, J., Surakka, I., Kangas, A. J., Soininen, P., O'Reilly, P., Kaakinen, M., Kahonen, M., Lehtimaki, T., Ala-Korpela, M., Raitakari, O. T., Salomaa, V., Jarvelin, M-R., Ripatti, S. & Kaski, S., 15 Jul 2014, In : Bioinformatics. 30, 14, p. 2026-2034 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Chromosome X-Wide Association Study Identifies Loci for Fasting Insulin and Height and Evidence for Incomplete Dosage Compensation

Tukiainen, T., Pirinen, M., Sarin, A-P., Ladenvall, C., Kettunen, J., Lehtimaeki, T., Lokki, M-L., Perola, M., Sinisalo, J., Vlachopoulou, E., Eriksson, J. G., Groop, L., Jula, A., Jaervelin, M-R., Raitakari, O. T., Salomaa, V. & Ripatti, S., Feb 2014, In : PLoS Genetics. 10, 2, 12 p.

Research output: Contribution to journalArticleScientificpeer-review

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Common variant at 16p11.2 conferring risk of psychosis

Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., Sigurdsson, E., Vassos, E., Giegling, I., Breuer, R., Fraser, G., Walker, N., Melle, I., Djurovic, S., Agartz, I., Tuulio-Henriksson, A. & 32 othersSuvisaari, J., Lönnqvist, J., Paunio, T., Olsen, L., Hansen, T., Ingason, A., Pirinen, M., Strengman, E., Hougaard, D. M., Orntoft, T., Didriksen, M., Hollegaard, M. V., Nordentoft, M., Abramova, L., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Etain, B., Bellivier, F., Meary, A., Schuerhoff, F., Szoke, A., Ribolsi, M., Magni, V., Siracusano, A., Sperling, S., Rehnstrom, K., Kilpinen, L. H., Palotie, A., GROUP & Wellcome Trust Case Control Consor, Jan 2014, In : Molecular Psychiatry. 19, 1, p. 108-114 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Reappraisal of known malaria resistance loci in a large multicenter study

Rockett, K. A., Clarke, G. M., Fitzpatrick, K., Hubbart, C., Jeffreys, A. E., Rowlands, K., Craik, R., Jallow, M., Conway, D. J., Bojang, K. A., Pinder, M., Usen, S., Sisay-Joof, F., Sirugo, G., Toure, O., Thera, M. A., Konate, S., Sissoko, S., Niangaly, A., Poudiougou, B. & 63 othersMangano, V. D., Bougouma, E. C., Sirima, S. B., Modiano, D., Amenga-Etego, L. N., Ghansah, A., Koram, K. A., Wilson, M. D., Enimil, A., Evans, J., Amodu, O., Olaniyan, S., Apinjoh, T., Mugri, R., Ndi, A., Ndila, C. M., Uyoga, S., Macharia, A., Peshu, N., Williams, T. N., Manjurano, A., Riley, E., Drakeley, C., Reyburn, H., Nyirongo, V., Kachala, D., Molyneux, M., Dunstan, S. J., Phu, N. H., Quyen, N. T. N., Thai, C. Q., Hien, T. T., Manning, L., Laman, M., Siba, P., Karunajeewa, H., Allen, S., Allen, A., Davis, T. M. E., Michon, P., Mueller, I., Green, A., Molloy, S., Johnson, K. J., Kerasidou, A., Cornelius, V., Hart, L., Vanderwal, A., SanJoaquin, M., Band, G., Le, S. Q., Pirinen, M., Sepulveda, N., Spencer, C. C. A., Clark, T. G., Agbenyega, T., Achidi, E., Doumbo, O., Farrar, J., Marsh, K., Taylor, T., Kwiatkowski, D. P. & Netwo, M. G. E., 1 Nov 2014, In : Nature Genetics. 46, 11, p. 1197-1204 8 p.

Research output: Contribution to journalArticleScientificpeer-review

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

Wellcome Trust Case Control , 1 Jul 2014, In : Nature Communications. 5, 6 p., 4204.

Research output: Contribution to journalArticleScientificpeer-review

2013

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Beecham, A. H., Patsopoulos, N. A., Xifara, D. K., Davis, M. F., Kemppinen, A., Cotsapas, C., Shah, T. S., Spencer, C., Booth, D., Goris, A., Oturai, A., Saarela, J., Fontaine, B., Hemmer, B., Martin, C., Zipp, F., D'Alfonso, S., Martinelli-Boneschi, F., Taylor, B., Harbo, H. F. & 32 othersKockum, I., Hillert, J., Olsson, T., Ban, M., Oksenberg, J. R., Hintzen, R., Barcellos, L. F., Agliardi, C., Alfredsson, L., Alizadeh, M., Anderson, C., Andrews, R., Sondergaard, H. B., Baker, A., Band, G., Baranzini, S. E., Barizzone, N., Barrett, J., Bellenguez, C., Bergamaschi, L., Bernardinelli, L., Berthele, A., Biberacher, V., Binder, T. M. C., Blackburn, H., Bomfim, I. L., Brambilla, P., Leppä, V., Pirinen, M., Tienari, P., Wellcome Trust Case Control Consor & Int IBD Genetics Consortium IIBDGC, Nov 2013, In : Nature Genetics. 45, 11, p. 1353-+ 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Assessing association between protein truncating variants and quantitative traits

Rivas, M. A., Pirinen, M., Neville, M. J., Gaulton, K. J., Moutsianas, L., Lindgren, C. M., Karpe, F., McCarthy, M. I., Donnelly, P. & GoT2D Consortium, 1 Oct 2013, In : Bioinformatics. 29, 19, p. 2419-2426 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Bayesian Information Sharing Between Noise And Regression Models Improves Prediction of Weak Effects

Gillberg, J., Marttinen, P., Pirinen, M., Kangas, A. J., Soininen, P., Järvelin, M-R., Ala-Korpela, M. & Kaski, S., 16 Oct 2013, In : arXiv.org . 1310.4362v1 , 9 p.

Research output: Contribution to journalArticleScientific

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

Fakiola, M., Strange, A., Cordell, H. J., Miller, E. N., Pirinen, M., Su, Z., Mishra, A., Mehrotra, S., Monteiro, G. R., Band, G., Bellenguez, C., Dronov, S., Edkins, S., Freeman, C., Giannoulatou, E., Gray, E., Hunt, S. E., Lacerda, H. G., Langford, C., Pearson, R. & 33 othersPontes, N. N., Rai, M., Singh, S. P., Smith, L., Sousa, O., Vukcevic, D., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Wilson, M. E., Deloukas, P., Palotie, L., Christiansen, F., Witt, C., Jeronimo, S. M. B., Sundar, S., Spencer, C. C. A., Blackwell, J. M., Donnelly, P., LeishGEN Consortium & Wellcome Trust Case Control, Feb 2013, In : Nature Genetics. 45, 2, p. 208-213 6 p.

Research output: Contribution to journalArticleScientificpeer-review

EFFICIENT COMPUTATION WITH A LINEAR MIXED MODEL ON LARGE-SCALE DATA SETS WITH APPLICATIONS TO GENETIC STUDIES

Pirinen, M., Donnelly, P. & Spencer, C. C. A., Mar 2013, In : Annals of Applied Statistics. 7, 1, p. 369-390 22 p.

Research output: Contribution to journalArticleScientificpeer-review

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

Donnelly, P., WTCCC2, BMES & Pirinen, M. J., 15 Nov 2013, In : Human Molecular Genetics. 22, 22, p. 4653-4660 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Transcriptome and genome sequencing uncovers functional variation in humans

Lappalainen, T., Sammeth, M., Friedlaender, M. R., 't Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzalez-Porta, M., Kurbatova, N., Griebel, T., Ferreira, P. G., Barann, M., Wieland, T., Greger, L., van Iterson, M., Almloef, J., Ribeca, P., Pulyakhina, I., Esser, D., Giger, T., Tikhonov, A. & 31 othersSultan, M., Bertier, G., MacArthur, D. G., Lek, M., Lizano, E., Buermans, H. P. J., Padioleau, I., Schwarzmayr, T., Karlberg, O., Ongen, H., Kilpinen, H., Beltran, S., Gut, M., Kahlem, K., Amstislavskiy, V., Stegle, O., Pirinen, M., Montgomery, S. B., Donnelly, P., McCarthy, M. I., Flicek, P., Strom, T. M., Lehrach, H., Schreiber, S., Sudbrak, R., Carracedo, A., Antonarakis, S. E., Haesler, R., Syvaenen, A-C., Van Ommen, G-J. & Geuvadis Consortium, 26 Sep 2013, In : Nature. 501, 7468, p. 506-511 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

Bayesian refinement of association signals for 14 loci in 3 common diseases

Maller, J. B., McVean, G., Byrnes, J., Vukcevic, D., Palin, K., Su, Z., Howson, J. M. M., Auton, A., Myers, S., Morris, A., Pirinen, M., Brown, M. A., Burton, P. R., Caulfield, M. J., Compston, A., Farrall, M., Hall, A. S., Hattersley, A. T., Hill, A. V. S., Mathew, C. G. & 18 othersPembrey, M., Satsangi, J., Stratton, M. R., Worthington, J., Craddock, N., Hurles, M., Ouwehand, W., Parkes, M., Rahman, N., Duncanson, A., Todd, J. A., Kwiatkowski, D. P., Samani, N. J., Gough, S. C. L., McCarthy, M. I., Deloukas, P., Donnelly, P. & Wellcome Trust Case Control Consor, Dec 2012, In : Nature Genetics. 44, 12, p. 1294-1301 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Su, Z., Gay, L. J., Strange, A., Palles, C., Band, G., Whiteman, D. C., Lescai, F., Langford, C., Nanji, M., Edkins, S., van der Winkel, A., Levine, D., Sasieni, P., Bellenguez, C., Howarth, K., Freeman, C., Trudgill, N., Tucker, A. T., Pirinen, M., Peppelenbosch, M. P. & 32 othersvan der Laan, L. J. W., Kuipers, E. J., Drenth, J. P. H., Peters, W. H., Reynolds, J. V., Kelleher, D. P., McManus, R., Grabsch, H., Prenen, H., Bisschops, R., Krishnadath, K., Siersema, P. D., van Baal, J. W. P. M., Middleton, M., Petty, R., Gillies, R., Burch, N., Bhandari, P., Paterson, S., Edwards, C., Penman, I., Vaidya, K., Ang, Y., Murray, I., Patel, P., Ye, W., Mullins, P., Wu, A. H., Rautanen, A., Palotie, L., Esophageal Adenocarcinoma Genetics & Wellcome Trust Case Control Consor, Oct 2012, In : Nature Genetics. 44, 10, p. 1131-1136 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

Bellenguez, C., Bevan, S., Gschwendtner, A., Spencer, C. C. A., Burgess, A. I., Pirinen, M., Jackson, C. A., Traylor, M., Strange, A., Su, Z., Band, G., Syme, P. D., Malik, R., Pera, J., Norrving, B., Lemmens, R., Freeman, C., Schanz, R., James, T., Poole, D. & 70 othersMurphy, L., Segal, H., Cortellini, L., Cheng, Y-C., Woo, D., Nalls, M. A., Mueller-Myhsok, B., Meisinger, C., Seedorf, U., Ross-Adams, H., Boonen, S., Wloch-Kopec, D., Valant, V., Slark, J., Furie, K., Delavaran, H., Langford, C., Deloukas, P., Edkins, S., Hunt, S., Gray, E., Dronov, S., Peltonen, L., Gretarsdottir, S., Thorleifsson, G., Thorsteinsdottir, U., Stefansson, K., Boncoraglio, G. B., Parati, E. A., Attia, J., Holliday, E., Levi, C., Franzosi, M-G., Goel, A., Helgadottir, A., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Duncanson, A., Jankowski, J., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Worrall, B. B., Kittner, S. J., Mitchell, B. D., Kissela, B., Meschia, J. F., Thijs, V., Lindgren, A., Macleod, M. J., Slowik, A., Walters, M., Rosand, J., Sharma, P., Farrall, M., Sudlow, C. L. M., Rothwell, P. M., Dichgans, M., Donnelly, P., Markus, H. S., ISGC & WTCCC2, Mar 2012, In : Nature Genetics. 44, 3, p. 328-333 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Genome-Wide Association Study Implicates HLA-C*01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia

Strange, A., Riley, B. P., Spencer, C. C. A., Morris, D. W., Pirinen, M., O'Dushlaine, C. T., Su, Z., Maher, B. S., Freeman, C., Cormican, P., Bellenguez, C., Kenny, E. M., Band, G., Wormley, B., Donohoe, G., Dilthey, A., Moutsianas, L., Quinn, E., Edkins, S., Judge, R. & 34 othersColeman, K., Hunt, S., Tropea, D., Roche, S., Cummings, L., Kelleher, E., McKeon, P., Dinan, T., McDonald, C., Murphy, K. C., O'Callaghan, E., O'Neill, F. A., Waddington, J. L., Walsh, D., Giannoulatou, E., Langford, C., Deloukas, P., Gray, E., Dronov, S., Potter, S., Pearson, R., Vukcevic, D., Tashakkori-Ghanbaria, A., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Duncanson, A., Rautanen, A., Palotie, L., Irish Schizophrenia Genomics Conso, SGENE Consortium, Schizophrenia Working Grp Psychiat & Wellcome Trust Case Control Consor, 15 Oct 2012, In : Biological Psychiatry. 72, 8, p. 620-628 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Tsoi, L. C., Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., Ding, J., Li, Y., Tejasvi, T., Gudjonsson, J. E., Kang, H. M., Allen, M. H., McManus, R., Novelli, G., Samuelsson, L., Schalkwijk, J., Stahle, M., Burden, A. D., Smith, C. H., Cork, M. J. & 179 othersEstivill, X., Bowcock, A. M., Krueger, G. G., Weger, W., Worthington, J., Tazi-Ahnini, R., Nestle, F. O., Hayday, A., Hoffmann, P., Winkelmann, J., Wijmenga, C., Langford, C., Edkins, S., Andrews, R., Blackburn, H., Strange, A., Band, G., Pearson, R. D., Vukcevic, D., Spencer, C. C. A., Deloukas, P., Mrowietz, U., Schreiber, S., Weidinger, S., Koks, S., Kingo, K., Esko, T., Metspalu, A., Lim, H. W., Voorhees, J. J., Weichenthal, M., Wichmann, H. E., Chandran, V., Rosen, C. F., Rahman, P., Gladman, D. D., Griffiths, C. E. M., Reis, A., Kere, J., Nair, R. P., Franke, A., Barker, J. N. W. N., Abecasis, G. R., Elder, J. T., Trembath, R. C., Duffin, K. C., Helms, C., Goldgar, D., Li, Y., Paschall, J., Malloy, M. J., Pullinger, C. R., Kane, J. P., Gardner, J., Perlmutter, A., Miner, A., Feng, B. J., Hiremagalore, R., Ike, R. W., Christophers, E., Henseler, T., Ruether, A., Schrodi, S. J., Prahalad, S., Guthery, S. L., Fischer, J., Liao, W., Kwok, P., Menter, A., Lathrop, G. M., Wise, C., Begovich, A. B., Onoufriadis, A., Weale, M. E., Hofer, A., Salmhofer, W., Wolf, P., Kainu, K., Saarialho-Kere, U., Suomela, S., Badorf, P., Hueffmeier, U., Kurrat, W., Kuester, W., Lascorz, J., Moessner, R., Schuermeier-Horst, F., Staender, M., Traupe, H., Bergboer, J. G. M., den Heijer, M., van de Kerkhof, P. C., Zeeuwen, P. L. J. M., Barnes, L., Campbell, L. E., Cusack, C., Coleman, C., Conroy, J., Ennis, S., Fitzgerald, O., Gallagher, P., Irvine, A. D., Kirby, B., Markham, T., McLean, W. H. I., McPartlin, J., Rogers, S. F., Ryan, A. W., Zawirska, A., Giardina, E., Lepre, T., Perricone, C., Martin-Ezquerra, G., Pujol, R. M., Riveira-Munoz, E., Inerot, A., Naluai, A. T., Mallbris, L., Wolk, K., Leman, J., Barton, A., Warren, R. B., Young, H. S., Ricano-Ponce, I., Trynka, G., Pellett, F. J., Henschel, A., Aurand, M., Bebo, B., Gieger, C., Illig, T., Moebus, S., Joeckel, K-H., Erbe, R., Donnelly, P., Palotie, L., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Craddock, N., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., McCarthy, M. I., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Samani, N., Viswanathan, A. C., Wood, N. W., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Su, Z., Hunt, S. E., Gwilliam, R., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Perez, M. L., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P. & Wellcome Trust Case Control Consor, Collaborative Assoc Study Psoriasi, Genetic Anal Psoriasis Consortium, Psoriasis Assoc Genetics Extension, Dec 2012, In : Nature Genetics. 44, 12, p. 1341-1348 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Including known covariates can reduce power to detect genetic effects in case-control studies

Pirinen, M., Donnelly, P. & Spencer, C. C. A., Aug 2012, In : Nature Genetics. 44, 8, p. 848-851 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Evans, D. M., Spencer, C. C. A., Pointon, J. J., Su, Z., Harvey, D., Kochan, G., Opperman, U., Dilthey, A., Pirinen, M., Stone, M. A., Appleton, L., Moutsianis, L., Leslie, S., Wordsworth, T., Kenna, T. J., Karaderi, T., Thomas, G. P., Ward, M. M., Weisman, M. H., Farrar, C. & 33 othersBradbury, L. A., Danoy, P., Inman, R. D., Maksymowych, W., Gladman, D., Rahman, P., Morgan, A., Marzo-Ortega, H., Bowness, P., Gaffney, K., Gaston, J. S. H., Smith, M., Bruges-Armas, J., Couto, A-R., Sorrentino, R., Paladini, F., Ferreira, M. A., Xu, H., Liu, Y., Jiang, L., Lopez-Larrea, C., Diaz-Pena, R., Lopez-Vazquez, A., Zayats, T., Band, G., Bellenguez, C., Blackburn, H., Blackwell, J. M., Palotie, L., Rautanen, A., Australo-Anglo-Amer Spondyloarthri, Wellcome Trust Case Control Consor & Spondyloarthrit Res Consortium Can, Aug 2011, In : Nature Genetics. 43, 8, p. 761-767 7 p.

Research output: Contribution to journalArticleScientificpeer-review