Publications 1997 2020

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2020

Life-long impairment of glucose homeostasis upon prenatal exposure to psychostimulants

Korchynska, S., Krassnitzer, M., Malenczyk, K., Prasad, R. B., Tretiakov, E. O., Rehman, S., Cinquina, V., Gernedl, V., Farlik, M., Petersen, J., Hannes, S., Schachenhofer, J., Reisinger, S. N., Zambon, A., Asplund, O., Artner, I., Keimpema, E., Lubec, G., Mulder, J., Bock, C. & 6 others, Pollak, D. D., Romanov, R. A., Pifl, C., Groop, L., Hokfelt, T. G. M. & Harkany, T., 2 Jan 2020, In : EMBO Journal. 39, 1, 19 p., 100882.

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2019

1-Hour Post-OGTT Glucose Improves the Early Prediction of Type 2 Diabetes by Clinical and Metabolic Markers

Peddinti, G., Bergman, M., Tuomi, T. & Groop, L., Apr 2019, In : Journal of Clinical Endocrinology and Metabolism. 104, 4, p. 1131-1140 10 p.

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Accuracy of self-reported anthropometric measures - Findings from the Finnish Twin Study

Tuomela, J., Kaprio, J., Sipilä, P. N., Silventoinen, K., Wang, X., Ollikainen, M. & Piirtola, M., 2019, In : Obesity Research & Clinical Practice. 13, 6, p. 522-528 7 p.

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A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency

Pikkarainen, S., Martelius, T., Ristimäki, A., Siitonen, S., Seppanen, M. R. J. & Färkkilä, M., Apr 2019, In : American Journal of Gastroenterology. 114, 4, p. 648-655 8 p.

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A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria

Ahluwalia, T. S., Schulz, C-A., Waage, J., Skaaby, T., Sandholm, N., van Zuydam, N., Charmet, R., Bork-Jensen, J., Almgren, P., Thuesen, B. H., Bedin, M., Brandslund, I., Christensen, C. K., Linneberg, A., Ahlqvist, E., Groop, P-H., Hadjadj, S., Tregouet, D-A., Jorgensen, M. E., Grarup, N. & 9 others, Pedersen, O., Simons, M., Groop, L., Orho-Melander, M., McCarthy, M. I., Melander, O., Rossing, P., Kilpeläinen, T. O. & Hansen, T., Feb 2019, In : Diabetologia. 62, 2, p. 292-305 14 p.

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Assessment of genetic variant burden in epilepsy-associated brain lesions

Niestroj, L-M., May, P., Artomov, M., Kobow, K., Coras, R., Perez-Palma, E., Altmueller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M. J., Klein, K. M., Beschorner, R., Weber, Y. G., Blümcke, I. & Lal, D., Nov 2019, In : European Journal of Human Genetics. 27, 11, p. 1738-1744 7 p.

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Association analyses identify 31 new risk loci for colorectal cancer susceptibility

PRACTICAl Consortium, Law, P. J., Timofeeva, M., Fernandez-Rozadilla, C., Palin, K., Hänninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Eriksson, J. G., Jousilahti, P., Ripatti, S., Palotie, A., Renkonen-Sinisalo, L., Lepistö, A., Aaltonen, L. A., Rissanen, H., Salomaa, V. & 3 others, Böhm, J., Mecklin, J-P. & Pukkala, E., 14 May 2019, In : Nature Communications. 10, 15 p., 2154.

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Associations of autozygosity with a broad range of human phenotypes

Clark, D. W., Okada, Y., Moore, K. H. S., Mason, D., Pirastu, N., Gandin, I., Mattsson, H., Barnes, C. L. K., Lin, K., Zhao, J. H., Deelen, P., Rohde, R., Schurmann, C., Guo, X., Giulianini, F., Zhang, W., Medina-Gomez, C., Karlsson, R., Bao, Y., Bartz, T. M. & 416 others, Baumbach, C., Biino, G., Bixley, M. J., Brumat, M., Chai, J-F., Corre, T., Cousminer, D. L., Dekker, A. M., Eccles, D. A., Van Eijk, K. R., Fuchsberger, C., Gao, H., Germain, M., Gordon, S. D., de Haan, H. G., Harris, S. E., Hofer, E., Huerta-Chagoya, A., Igartua, C., Jansen, I. E., Jia, Y., Kacprowski, T., Karlsson, T., Kleber, M. E., Li, S. A., Li-Gao, R., Mahajan, A., Matsuda, K., Meidtner, K., Meng, W., Montasser, M. E., van der Most, P. J., Munz, M., Nutile, T., Palviainen, T., Prasad, G., Prasad, R. B., Priyanka, T. D. S., Rizzi, F., Salvi, E., Sapkota, B. R., Shriner, D., Skotte, L., Smart, M. C., Smith, A. V., van der Spek, A., Spracklen, C. N., Strawbridge, R. J., Tajuddin, S. M., Trompet, S., Turman, C., Verweij, N., Viberti, C., Wang, L., Warren, H. R., Wootton, R. E., Yanek, L. R., Yao, J., Yousri, N. A., Zhao, W., Adeyemo, A. A., Afaq, S., Alberto Aguilar-Salinas, C., Akiyama, M., Albert, M. L., Allison, M. A., Alver, M., Aung, T., Azizi, F., Bentley, A. R., Boeing, H., Boerwinkle, E., Borja, J. B., de Borst, G. J., Bottinger, E. P., Broer, L., Campbell, H., Chanock, S., Chee, M-L., Chen, G., Chen, Y-D. I., Chen, Z., Chiu, Y-F., Cocca, M., Collins, F. S., Concas, M. P., Corley, J., Cugliari, G., Van Dam, R. M., Damulina, A., Daneshpour, M. S., Day, F. R., Delgado, G. E., Dhana, K., Doney, A. S. F., Doerr, M., Doumatey, A. P., Dzimiri, N., Ebenesersdottir, S. S., Elliott, J., Elliott, P., Ewert, R., Felix, J. F., Fischer, K., Freedman, B. I., Girotto, G., Goel, A., Gogele, M., Goodarzi, M. O., Graff, M., Granot-Hershkovitz, E., Grodstein, F., Guarrera, S., Gudbjartsson, D. F., Guity, K., Gunnarsson, B., Guo, Y., Hagenaars, S. P., Haiman, C. A., Halevy, A., Harris, T. B., Hedayati, M., van Heel, D. A., Hirata, M., Hofer, I., Hsiung, C. A., Huang, J., Hung, Y-J., Ikram, M. A., Jagadeesan, A., Jousilahti, P., Kamatani, Y., Kanai, M., Kerrison, N. D., Kessler, T., Khaw, K-T., Khor, C. C., de Kleijn, D. P. V., Koh, W-P., Kolcic, I., Kraft, P., Kramer, B. K., Kutalik, Z., Kuusisto, J., Langenberg, C., Launer, L. J., Lawlor, D. A., Lee, I-T., Lee, W-J., Lerch, M. M., Li, L., Liu, J., Loh, M., London, S. J., Loomis, S., Lu, Y., Luan, J., Magi, R., Manichaikul, A. W., Manunta, P., Masson, G., Matoba, N., Mei, X. W., Meisinger, C., Meitinger, T., Mezzavilla, M., Milani, L., Millwood, I. Y., Momozawa, Y., Moore, A., Morange, P-E., Moreno-Macias, H., Mori, T. A., Morrison, A. C., Muka, T., Murakami, Y., Murray, A. D., de Mutsert, R., Mychaleckyj, J. C., Nalls, M. A., Nauck, M., Neville, M. J., Nolte, I. M., Ong, K. K., Orozco, L., Padmanabhan, S., Palsson, G., Pankow, J. S., Pattaro, C., Pattie, A., Polasek, O., Poulter, N., Pramstaller, P. P., Quintana-Murci, L., Räikkönen, K., Ralhan, S., Rao, D. C., van Rheenen, W., Rich, S. S., Ridker, P. M., Rietveld, C. A., Robino, A., van Rooij, F. J. A., Ruggiero, D., Saba, Y., Sabanayagam, C., Sabater-Lleal, M., Felicita Sala, C., Salomaa, V., Sandow, K., Schmidt, H., Scott, L. J., Scott, W. R., Sedaghati-Khayat, B., Sennblad, B., van Setten, J., Sever, P. J., Sheu, W. H-H., Shi, Y., Shrestha, S., Shukla, S. R., Sigurdsson, J. K., Sikka, T. T., Singh, J. R., Smith, B. H., Stancakova, A., Stanton, A., Starr, J. M., Stefansdottir, L., Straker, L., Sulem, P., Sveinbjornsson, G., Swertz, M. A., Taylor, A. M., Taylor, K. D., Terzikhan, N., Tham, Y-C., Thorleifsson, G., Thorsteinsdottir, U., Tillander, A., Tracy, R. P., Tusie-Luna, T., Tzoulaki, I., Vaccargiu, S., Vangipurapu, J., Veldink, J. H., Vitart, V., Volker, U., Vuoksimaa, E., Wakil, S. M., Waldenberger, M., Wander, G. S., Wang, Y. X., Wareham, N. J., Wild, S., Yajnik, C. S., Yuan, J-M., Zeng, L., Zhang, L., Zhou, J., Amin, N., Asselbergs, F. W., Bakker, S. J. L., Becker, D. M., Lehne, B., Bennett, D. A., van den Berg, L. H., Berndt, S. I., Bharadwaj, D., Bielak, L. F., Bochud, M., Boehnke, M., Bouchard, C., Bradfield, J. P., Brody, J. A., Campbell, A., Carmi, S., Caulfield, M. J., Cesarini, D., Chambers, J. C., Chandak, G. R., Cheng, C-Y., Ciullo, M., Cornelis, M., Cusi, D., Smith, G. D., Deary, I. J., Dorajoo, R., van Duijn, C. M., Ellinghaus, D., Erdmann, J., Eriksson, J. G., Evangelou, E., Evans, M. K., Faul, J. D., Feenstra, B., Feitosa, M., Foisy, S., Franke, A., Friedlander, Y., Gasparini, P., Gieger, C., Gonzalez, C., Goyette, P., Grant, S. F. A., Griffiths, L. R., Groop, L., Gudnason, V., Gyllensten, U., Hakonarson, H., Hamsten, A., van der Harst, P., Heng, C-K., Hicks, A. A., Hochner, H., Huikuri, H., Hunt, S. C., Jaddoe, V. W. V., De Jager, P. L., Johannesson, M., Johansson, A., Jonas, J. B., Jukema, J. W., Junttila, J., Kaprio, J., Kardia, S. L. R., Karpe, F., Kumari, M., Laakso, M., van der Laan, S. W., Lahti, J., Laudes, M., Lea, R. A., Lieb, W., Lumley, T., Martin, N. G., Marz, W., Matullo, G., McCarthy, M. I., Medland, S. E., Merriman, T. R., Metspalu, A., Meyer, B. F., Mohlke, K. L., Montgomery, G. W., Mook-Kanamori, D., Munroe, P. B., North, K. E., Nyholt, D. R., O'connell, J. R., Ober, C., Oldehinkel, A. J., Palmas, W., Palmer, C., Pasterkamp, G. G., Patin, E., Pennell, C. E., Perusse, L., Peyser, P. A., Pirastu, M., Polderman, T. J. C., Porteous, D. J., Posthuma, D., Psaty, B. M., Rioux, J. D., Rivadeneira, F., Rotimi, C., Rotter, J. I., Rudan, I., Den Ruijter, H. M., Sanghera, D. K., Sattar, N., Schmidt, R., Schulze, M. B., Schunkert, H., Scott, R. A., Shuldiner, A. R., Sim, X., Small, N., Smith, J. A., Sotoodehnia, N., Tai, E-S., Teumer, A., Timpson, N. J., Toniolo, D., Tregouet, D-A., Tuomi, T., Vollenweider, P., Wang, C. A., Weir, D. R., Whitfield, J. B., Wijmenga, C., Wong, T-Y., Wright, J., Yang, J., Yu, L., Zemel, B. S., Zonderman, A. B., Perola, M., Magnusson, P. K. E., Uitterlinden, A. G., Kooner, J. S., Chasman, D. I., Loos, R. J. F., Franceschini, N., Franke, L., Haley, C. S., Hayward, C., Walters, R. G., Perry, J. R. B., Esko, T., Helgason, A., Stefansson, K., Joshi, P. K., Kubo, M. & Wilson, J. F., 31 Oct 2019, In : Nature Communications. 10, 17 p., 4957.

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A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Intl Multiple Sclerosis Genetics, Madireddy, L., Patsopoulos, N. A. & Palotie, A., 20 May 2019, In : Nature Communications. 10, 12 p., 2236.

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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.

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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Rahikkala, E., Myllykoski, M., Hinttala, R., Vieira, P., Nayebzadeh, N., Weiss, S., Plomp, A. S., Bittner, R. E., Kurki, M. I., Kuismin, O., Lewis, A. M., Väisänen, M-L., Kokkonen, H., Westermann, J., Bernert, G., Tuominen, H., Palotie, A., Aaltonen, L., Yang, Y., Potocki, L. & 6 others, Moilanen, J., van Koningsbruggen, S., Wang, X., Schmidt, W. M., Koivunen, P. & Uusimaa, J., Oct 2019, In : Genetics In Medicine. 21, 10, p. 2355-2363 9 p.

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Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

Artomov, M., Joseph, V., Tiao, G., Thomas, T., Schrader, K., Klein, R. J., Kiezun, A., Gupta, N., Margolin, L., Stratigos, A. J., Kim, I., Shannon, K., Ellisen, L. W., Haber, D., Getz, G., Tsao, H., Lipkin, S. M., Altshuler, D., Offit, K. & Daly, M. J., May 2019, In : European Journal of Human Genetics. 27, 5, p. 824-828 5 p.

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Clinical use of current polygenic risk scores may exacerbate health disparities

Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M. & Daly, M. J., Apr 2019, In : Nature Genetics. 51, 4, p. 584-591 8 p.

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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Kurki, M. I., Saarentaus, E. C., Pietiläinen, O., Gormley, P., Lal, D., Kerminen, S., Torniainen-Holm, M., Hämäläinen, E., Rahikkala, E., Keski-Filppula, R., Rauhala, M., Korpi-Heikkila, S., Komulainen-Ebrahim, J., Helander, H., Vieira, P., Männikkö, M., Peltonen, M., Havulinna, A., Salomaa, V., Pirinen, M. & 6 others, Suvisaari, J., Moilanen, J. S., Körkkö, J., Kuismin, O., Daly, M. & Palotie, A., 24 Jan 2019, In : Nature Communications. 10, 1, 15 p., 410.

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Coronary Artery Disease Risk and Lipidomic Profiles Are Similar in Hyperlipidemias With Family History and Population-Ascertained Hyperlipidemias

Ramo, J. T., Ripatti, P., Tabassum, R., Soderlund, S., Matikainen, N., Gerl, M. J., Klose, C., Surma, M. A., Stitziel, N. O., Havulinna, A. S., Pirinen, M., Salomaa, V., Freimer, N. B., Jauhiainen, M., Palotie, A., Taskinen, M-R., Simons, K. & Ripatti, S., 2 Jul 2019, In : Journal of the American Heart Association. 8, 13, 38 p., 012415.

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Diagnostic implications of genetic copy number variation in epilepsy plus

EuroEPINOMICS- RES Consortium, EpiCNV Consortium, Coppola, A., Cellini, E., Saarentaus, E., Palotie, A., Lehesjioki, A-E. & von Spiczak, S., Apr 2019, In : Epilepsia. 60, 4, p. 689-706 18 p.

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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

ADHD Working Grp Psychiat Genomics, Early Lifecourse Genetic & 23andMe Res Team, Jan 2019, In : Nature Genetics. 51, 1, p. 63-+ 16 p.

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Disentangling the genetics of lean mass

Karasik, D., Zillikens, M. C., Hsu, Y-H., Aghdassi, A., Akesson, K., Amin, N., Barroso, I., Bennett, D. A., Bertram, L., Bochud, M., Borecki, I. B., Broer, L., Buchman, A. S., Byberg, L., Campbell, H., Campos-Obando, N., Cauley, J. A., Cawthon, P. M., Chambers, J. C., Chen, Z. & 137 others, Cho, N. H., Choi, H. J., Chou, W-C., Cummings, S. R., de Groot, L. C. P. G. M., De Jager, P. L., Demuth, I., Diatchenko, L., Econs, M. J., Eiriksdottir, G., Enneman, A. W., Eriksson, J., Eriksson, J. G., Estrada, K., Evans, D. S., Feitosa, M. F., Fu, M., Gieger, C., Grallert, H., Gudnason, V., Lenore, L. J., Hayward, C., Hofman, A., Homuth, G., Huffman, K. M., Husted, L. B., Illig, T., Ingelsson, E., Ittermann, T., Jansson, J-O., Johnson, T., Biffar, R., Jordan, J. M., Jula, A., Karlsson, M., Khaw, K-T., Kilpelainen, T. O., Klopp, N., Kloth, J. S. L., Koller, D. L., Kooner, J. S., Kraus, W. E., Kritchevsky, S., Kutalik, Z., Kuulasmaa, T., Kuusisto, J., Laakso, M., Lahti, J., Lang, T., Langdahl, B. L., Lerch, M. M., Lewis, J. R., Lill, C., Lind, L., Lindgren, C., Liu, Y., Livshits, G., Ljunggren, O., Loos, R. J. F., Lorentzon, M., Luan, J., Luben, R. N., Malkin, I., McGuigan, F. E., Medina-Gomez, C., Meitinger, T., Melhus, H., Mellstrom, D., Michaelsson, K., Mitchell, B. D., Morris, A. P., Mosekilde, L., Nethander, M., Newman, A. B., O'Connell, J. R., Oostra, B. A., Orwoll, E. S., Palotie, A., Peacock, M., Perola, M., Peters, A., Prince, R. L., Psaty, B. M., Räikkönen, K., Ralston, S. H., Ripatti, S., Rivadeneira, F., Robbins, J. A., Rotter, J. I., Rudan, I., Salomaa, V., Satterfield, S., Schipf, S., Shin, C. S., Smith, A. V., Smith, S. B., Soranzo, N., Spector, T. D., Stancakova, A., Stefansson, K., Steinhagen-Thiessen, E., Stolk, L., Streeten, E. A., Styrkarsdottir, U., Swart, K. M. A., Thompson, P., Thomson, C. A., Thorleifsson, G., Thorsteinsdottir, U., Tikkanen, E., Tranah, G. J., Uitterlinden, A. G., van Duijn, C. M., van Schoor, N. M., Vandenput, L., Vollenweider, P., Volzke, H., Wactawski-Wende, J., Walker, M., Wareham, N. J., Waterworth, D., Weedon, M. N., Wichmann, H-E., Widen, E., Williams, F. M. K., Wilson, J. F., Wright, N. C., Yerges-Armstrong, L. M., Yu, L., Zhang, W., Zhao, J. H., Zhou, Y., Nielson, C. M., Harris, T. B., Demissie, S., Kiel, D. P. & Ohlsson, C., Feb 2019, In : American Journal of Clinical Nutrition. 109, 2, p. 276-287 12 p.

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Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Spracklen, C. N., Karaderi, T., Yaghootkar, H., Schurmann, C., Fine, R. S., Kutalik, Z., Preuss, M. H., Lu, Y., Wittemans, L. B. L., Adair, L. S., Allison, M., Amin, N., Auer, P. L., Bartz, T. M., Blueher, M., Boehnke, M., Borja, J. B., Bork-Jensen, J., Broer, L., Chasman, D. I. & 84 others, Chen, Y-D. I., Chirstofidou, P., Demirkan, A., van Duijn, C. M., Feitosa, M. F., Garcia, M. E., Graff, M., Grallert, H., Grarup, N., Guo, X., Haesser, J., Hansen, T., Harris, T. B., Highland, H. M., Hong, J., Ikram, M. A., Ingelsson, E., Jackson, R., Jousilahti, P., Kahonen, M., Kizer, J. R., Kovacs, P., Kriebel, J., Laakso, M., Lange, L. A., Lehtimaki, T., Li, J., Ruifang Li-Gao, Lind, L., Luan, J., Lyytikainen, L-P., MacGregor, S., Mackey, D. A., Mahajan, A., Mangino, M., Männistö, S., McCarthy, M. I., McKnight, B., Medina-Gomez, C., Meigs, J. B., Molnos, S., Mook-Kanamori, D., Morris, A. P., de Mutsert, R., Nalls, M. A., Nedeljkovic, I., North, K. E., Pennell, C. E., Pradhan, A. D., Province, M. A., Raitakari, O. T., Raulerson, C. K., Reiner, A. P., Ridker, P. M., Ripatti, S., Roberston, N., Rotter, J. I., Salomaa, V., Sandoval-Zarate, A. A., Sitlani, C. M., Spector, T. D., Strauch, K., Stumvoll, M., Taylor, K. D., Thuesen, B., Toenjes, A., Uitterlinden, A. G., Venturini, C., Walker, M., Wang, C. A., Wang, S., Wareham, N. J., Willems, S. M., van Dijk, K. W., Wilson, J. G., Wu, Y., Yao, J., Young, K. L., Langenberg, C., Frayling, T. M., Kilpelainen, T. O., Lindgren, C. M., Loos, R. J. F. & Mohlke, K. L., 3 Jul 2019, In : American Journal of Human Genetics. 105, 1, p. 15-28 14 p.

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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Broad Genomics Platform, DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, AMP-T2D-GENES, Flannick, J., Mercader, J. M., Koistinen, H. A., Kuusisto, J., Groop, L., Tuomi, T., Tuomilehto, J. & Boehnke, M., 6 Jun 2019, In : Nature. 570, 7759, p. 71-+ 24 p.

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Exome sequencing of Finnish isolates enhances rare-variant association power

FinnGen Project, Locke, A. E., Havulinna, A. S., Pirinen, M., Eriksson, J. G., Ala-Korpela, M., Järvelin, M-R., Männikkö, M., Laivuori, H., Palotie, A., Salomaa, V., Laakso, M. & Ripatti, S., 15 Aug 2019, In : Nature. 572, 7769, p. 323–+ 21 p.

Research output: Contribution to journalArticleScientificpeer-review

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

CommonMind Consortium, Psychiat Genomics Consortium, iPSYCH-GEMS Schizophrenia Working, Huckins, L. M., Dobbyn, A., Ruderfer, D. M., Eriksson, J., Karjalainen, J., Lönnqvist, J., Paunio, T., Pietiläinen, O., Suvisaari, J., Palotie, A., Daly, M. J. & Salomaa, V., Apr 2019, In : Nature Genetics. 51, 4, p. 659-+ 18 p.

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Genetic and lifestyle risk factors for advanced liver disease among men and women

Sahlman, P., Nissinen, M., Puukka, P., Jula, A., Salomaa, V., Männistö, S., Lundqvist, A., Valsta, L., Perola, M., Färkkilä, M. & Åberg, F., 28 Jul 2019, In : Journal of Gastroenterology and Hepatology. 8 p.

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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

23and Me Res Team, eQTLGen Consortium, Int Cannabis Consortium, Soc Sci Genetic Association Con, Linner, R. K., Perola, M., Ripatti, S., Gupta, R., Lahti, J., Eklund, N., Koskinen, S., Latvala, A., Loukola, A., Mäki-Opas, T., Palotie, A., Sarin, A-P., Räikkönen, K., Eriksson, J. G., Kaprio, J., Perola, M. & 3 others, Salomaa, V., Kaasik, K. & Keltikangas-Järvinen, L., Feb 2019, In : Nature Genetics. 51, 2, p. 245-+ 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Anorexia Nervosa Genetics Initiati, Psychiat Genomics Consortium, Watson, H. J., Yilmaz, Z., Kaprio, J., Keski-Rahkonen, A., Palotie, A., Raevuori, A., Ripatti, S. & Widen, E., Aug 2019, In : Nature Genetics. 51, 8, p. 1207-+ 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Genome-wide association study in Finnish twins highlights the connection between nicotine addiction and neurotrophin signaling pathway

Hällfors, J., Palviainen, T., Surakka, I., Gupta, R., Buchwald, J., Raevuori, A., Ripatti, S., Korhonen, T., Jousilahti, P., Madden, P. A. F., Kaprio, J. & Loukola, A., May 2019, In : Addiction Biology. 24, 3, p. 549-561 13 p.

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Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

SUMMIT Consortium, DCCT EDIC Res Grp, GENIE Consortium, Salem, R. M., Todd, J. N., Sandholm, N., Valo, E., Haukka, J. K., Harjutsalo, V., Groop, L. C., Forsblom, C., Groop, P-H., Florez, J. C. & Panduru, N. M., Oct 2019, In : Journal of the American Society of Nephrology. 30, 10, p. 2000-2016 17 p.

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Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

eQTLGen Consortium, Timmers, P. R. H. J., Kettunen, J., Perola, M. & Ripatti, S., 15 Jan 2019, In : eLife. 8, 40 p., 39856.

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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

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

BIOS Consortium, Early Growth Genetics EGG Conso, Alves, A. C., De Silva, N. M. G., Cousminer, D. L., Eriksson, J. G. & Widen, E., Sep 2019, In : Science Advances. 5, 9, 17 p., 3095.

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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

Heterogeneity of diabetes - An Indian perspective

Prasad, R. B., Ahlqvist, E. & Groop, L., 2019, In : Diabetes & Metabolic Syndrome: clinical research & reviews.. 13, 5, p. 3065-3067 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., Karhu, A., Taira, A., Tanskanen, T., Alkodsi, A., Taipale, M., Morgunova, E., Franssila, K., Lehtonen, R., Mäkinen, M., Aittomäki, K. & 15 others, Palotie, A., Kurki, M., Pietiläinen, O., Hilpert, M., Saarentaus, E., Niinimäki, J., Junttila, J., Kaikkonen, K., Vahteristo, P., Skoda, R. C., Seppänen, M. R. J., Eklund, K. K., Taipale, J., Kilpivaara, O. & Aaltonen, L. A., 19 Mar 2019, In : Nature Communications. 10, 17 p., 1252.

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Interaction Between Overweight and Genotypes of HLA, TCF7L2, and FTO in Relation to the Risk of Latent Autoimmune Diabetes in Adults and Type 2 Diabetes

Hjort, R., Lofvenborg, J. E., Ahlqvist, E., Alfredsson, L., Andersson, T., Grill, V., Groop, L., Sorgjerd, E. P., Tuomi, T., Åsvold, B. O. & Carlsson, S., Oct 2019, In : Journal of Clinical Endocrinology and Metabolism. 104, 10, p. 4815-4826 12 p.

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Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Dwivedi, O. P., Lehtovirta, M., Hastoy, B., Chandra, V., Krentz, N. A. J., Kleiner, S., Jain, D., Richard, A-M., Abaitua, F., Beer, N. L., Grotz, A., Prasad, R. B., Hansson, O., Ahlqvist, E., Krus, U., Artner, I., Suoranta, A., Gomez, D., Baras, A., Champon, B. & 27 others, Payne, A. J., Moralli, D., Thomsen, S. K., Kramer, P., Spiliotis, I., Ramracheya, R., Chabosseau, P., Theodoulou, A., Cheung, R., van de Bunt, M., Flannick, J., Trombetta, M., Bonora, E., Wolheim, C. B., Sarelin, L., Bonadonna, R. C., Rorsman, P., Davies, B., Brosnan, J., McCarthy, M., Otonkoski, T., Lagerstedt, J. O., Rutter, G. A., Gromada, J., Gloyn, A. L., Tuomi, T. & Groop, L., Nov 2019, In : Nature Genetics. 51, 11, p. 1596-+ 22 p.

Research output: Contribution to journalArticleScientificpeer-review

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

UK10K Consortium, 21 Jan 2019, In : Nature Communications. 10, 16 p., 357.

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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

EGG Consortium, Warrington, N. M., Beaumont, R. N., Huikari, V., Lyytikainen, L-P., Pitkanen, N., Eriksson, J. G., Heikkinen, J., Sebert, S., Järvelin, M-R., Pahkala, K., Raitakari, O. T., Atalay, M., Eloranta, A-M., Lakka, T. A., Harri, N., Kähönen, M. & Viikari, J. S., May 2019, In : Nature Genetics. 51, 5, p. 804-+ 17 p.

Research output: Contribution to journalArticleScientificpeer-review

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

eQTLGen Consortium, BIOS Consortium, Porcu, E., Rüeger, S., Lepik, K. & Perola, M., 24 Jul 2019, In : Nature Communications. 10, 12 p., 3300.

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Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy

Nath, A. P., Ritchie, S. C., Grinberg, N. F., Tang, H. H-F., Huang, Q. Q., Teo, S. M., Ahola-Olli, A. V., Würtz, P., Havulinna, A. S., Santalahti, K., Pitkanen, N., Lehtimäki, T., Kähönen, M., Lyytikäinen, L-P., Raitoharju, E., Seppälä, I., Sarin, A-P., Ripatti, S., Palotie, A., Perola, M. & 10 others, Viikari, J. S., Jalkanen, S., Maksimow, M., Salmi, M., Wallace, C., Raitakari, O. T., Salomaa, V., Abraham, G., Kettunen, J. & Inouye, M., 5 Dec 2019, In : American Journal of Human Genetics. 105, 6, p. 1076-1090 15 p.

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Munuaispotilaiden diabeteksen glukoositasapainon hoito

Paajanen, H. & Tuomi, T., 2019, In : Duodecim. 135, 4, p. 385-391 7 p.

Research output: Contribution to journalArticleProfessional

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Spataro, R., Kousi, M., Farhan, S. M. K., Willer, J. R., Ross, J. P., Dion, P. A., Rouleau, G. A., Daly, M. J., Neale, B. M., La Bella, V. & Katsanis, N., 16 Apr 2019, In : Human Genomics. 13, 10 p., 19.

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Patients with rheumatic diseases share similar patterns of healthcare resource utilization

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

Research output: Contribution to journalArticleScientificpeer-review

Phenotypic and genotypic differences between Indian and Scandinavian women with gestational diabetes mellitus

Arora, G. P., Åkerlund, M., Brons, C., Moen, G-H., Wasenius, N. S., Sommer, C., Jenum, A. K., Almgren, P., Thaman, R. G., Orho-Melander, M., Eriksson, J., Qvigstad, E., Birkeland, K., Berntorp, K., Vaag, A. A., Groop, L. & Prasad, R. B., Aug 2019, In : Journal of internal medicine. 286, 2, p. 192-206 15 p.

Research output: Contribution to journalArticleScientificpeer-review

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Polla, D. L., Rahikkala, E., Bode, M. K., Määttä, T., Varilo, T., Loman, T., Philips, A. K., Kurki, M., Palotie, A., Körkkö, J., Avela, K., Jacquemin, V., Pirson, I., Abramowicz, M., de Brouwer, A. P. M., Kuismin, O., van Bokhoven, H. & Järvelä, I., Aug 2019, In : European Journal of Human Genetics. 27, 8, p. 1235-1243 9 p.

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Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways

Lam, M., Hill, W. D., Trampush, J. W., Yu, J., Knowles, E., Davies, G., Stahl, E., Huckins, L., Liewald, D. C., Djurovic, S., Melle, I., Sundet, K., Christoforou, A., Reinvang, I., DeRosse, P., Lundervold, A. J., Steen, V. M., Espeseth, T., Räikkönen, K., Widen, E. & 48 others, Palotie, A., Eriksson, J. G., Giegling, I., Konte, B., Hartmann, A. M., Roussos, P., Giakoumaki, S., Burdick, K. E., Payton, A., Ollier, W., Chiba-Falek, O., Attix, D. K., Need, A. C., Cirulli, E. T., Voineskos, A. N., Stefanis, N. C., Avramopoulos, D., Hatzimanolis, A., Arking, D. E., Smyrnis, N., Bilder, R. M., Freimer, N. A., Cannon, T. D., London, E., Poldrack, R. A., Sabb, F. W., Congdon, E., Conley, E. D., Scult, M. A., Dickinson, D., Straub, R. E., Donohoe, G., Morris, D., Corvin, A., Gill, M., Hariri, A. R., Weinberger, D. R., Pendleton, N., Bitsios, P., Rujescu, D., Lahti, J., Le Hellard, S., Keller, M. C., Andreassen, O. A., Deary, I. J., Glahn, D. C., Malhotra, A. K. & Lencz, T., Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 334-350 17 p.

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Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W. K., Hirschhorn, J., Daly, M. J., Patterson, N., Neale, B., Mathieson, I., Reich, D. & Sunyaev, S. R., 21 Mar 2019, In : eLife. 8, 17 p., 39702.

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