Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
Yin, Xianyong, Chan, Lap Sum, Bose, Debraj, Jackson, Anne U., VandeHaar, Peter, Locke, Adam E., Fuchsberger, Christian, Stringham, Heather M., Welch, Ryan, Yu, Ketian, Fernandes Silva, Lilian, Service, Susan K., Zhang, Daiwei, Hector, Emily C., Young, Erica, Ganel, Liron, Das, Indraniel, Abel, Haley, Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Wagner, Gregory R., Kang, Jian, Morrison, Jean, Burant, Charles F., Collins, Francis S., Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Mohlke, Karen L., Scott, Laura J., Wen, Xiaoquan, Fauman, Eric B., Laakso, Markku, Boehnke, Michael
Published in Nature communications (28.03.2022)
Published in Nature communications (28.03.2022)
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Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers
Mars, Nina, Koskela, Jukka T., Ripatti, Pietari, Kiiskinen, Tuomo T. J., Havulinna, Aki S., Lindbohm, Joni V., Ahola-Olli, Ari, Kurki, Mitja, Karjalainen, Juha, Palta, Priit, Neale, Benjamin M., Daly, Mark, Salomaa, Veikko, Palotie, Aarno, Widén, Elisabeth, Ripatti, Samuli
Published in Nature medicine (01.04.2020)
Published in Nature medicine (01.04.2020)
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Systematic comparison of family history and polygenic risk across 24 common diseases
Mars, Nina, Lindbohm, Joni V., della Briotta Parolo, Pietro, Widén, Elisabeth, Kaprio, Jaakko, Palotie, Aarno, Ripatti, Samuli
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
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Genomic prediction of coronary heart disease
Abraham, Gad, Havulinna, Aki S, Bhalala, Oneil G, Byars, Sean G, De Livera, Alysha M, Yetukuri, Laxman, Tikkanen, Emmi, Perola, Markus, Schunkert, Heribert, Sijbrands, Eric J, Palotie, Aarno, Samani, Nilesh J, Salomaa, Veikko, Ripatti, Samuli, Inouye, Michael
Published in European heart journal (14.11.2016)
Published in European heart journal (14.11.2016)
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Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
Bis, Joshua C., Jian, Xueqiu, Kunkle, Brian W., Chen, Yuning, Hamilton-Nelson, Kara L., Bush, William S., Salerno, William J., Lancour, Daniel, Ma, Yiyi, Renton, Alan E., Marcora, Edoardo, Farrell, John J., Zhao, Yi, Qu, Liming, Ahmad, Shahzad, Amin, Najaf, Amouyel, Philippe, Beecham, Gary W., Below, Jennifer E., Campion, Dominique, Cantwell, Laura, Charbonnier, Camille, Chung, Jaeyoon, Crane, Paul K., Cruchaga, Carlos, Cupples, L. Adrienne, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Fulton, Lucinda, Gabriel, Stacey B., Genin, Emmanuelle, Gibbs, Richard A., Goate, Alison, Grenier-Boley, Benjamin, Gupta, Namrata, Haines, Jonathan L., Havulinna, Aki S., Helisalmi, Seppo, Hiltunen, Mikko, Howrigan, Daniel P., Ikram, M. Arfan, Kaprio, Jaakko, Konrad, Jan, Kuzma, Amanda, Lander, Eric S., Lathrop, Mark, Lehtimäki, Terho, Lin, Honghuang, Mattila, Kari, Mayeux, Richard, Muzny, Donna M., Nasser, Waleed, Neale, Benjamin, Nho, Kwangsik, Nicolas, Gaël, Patel, Devanshi, Pericak-Vance, Margaret A., Perola, Markus, Psaty, Bruce M., Quenez, Olivier, Rajabli, Farid, Redon, Richard, Reitz, Christiane, Remes, Anne M., Salomaa, Veikko, Sarnowski, Chloe, Schmidt, Helena, Schmidt, Michael, Schmidt, Reinhold, Soininen, Hilkka, Thornton, Timothy A., Tosto, Giuseppe, Tzourio, Christophe, van der Lee, Sven J., van Duijn, Cornelia M., Valladares, Otto, Vardarajan, Badri, Wang, Li-San, Wang, Weixin, Wijsman, Ellen, Wilson, Richard K., Witten, Daniela, Worley, Kim C., Zhang, Xiaoling, Bellenguez, Celine, Lambert, Jean-Charles, Kurki, Mitja I., Palotie, Aarno, Daly, Mark, Boerwinkle, Eric, Lunetta, Kathryn L., Destefano, Anita L., Dupuis, Josée, Martin, Eden R., Schellenberg, Gerard D., Seshadri, Sudha, Naj, Adam C., Fornage, Myriam, Farrer, Lindsay A.
Published in Molecular psychiatry (01.08.2020)
Published in Molecular psychiatry (01.08.2020)
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Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
Zhang, Ge, Feenstra, Bjarke, Bacelis, Jonas, Liu, Xueping, Muglia, Lisa M, Juodakis, Julius, Miller, Daniel E, Litterman, Nadia, Jiang, Pan-Pan, Russell, Laura, Hinds, David A, Hu, Youna, Weirauch, Matthew T, Chen, Xiaoting, Chavan, Arun R, Wagner, Günter P, Pavličev, Mihaela, Nnamani, Mauris C, Maziarz, Jamie, Karjalainen, Minna K, Rämet, Mika, Sengpiel, Verena, Geller, Frank, Boyd, Heather A, Palotie, Aarno, Momany, Allison, Bedell, Bruce, Ryckman, Kelli K, Huusko, Johanna M, Forney, Carmy R, Kottyan, Leah C, Hallman, Mikko, Teramo, Kari, Nohr, Ellen A, Davey Smith, George, Melbye, Mads, Jacobsson, Bo, Muglia, Louis J
Published in The New England journal of medicine (21.09.2017)
Published in The New England journal of medicine (21.09.2017)
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Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland
Kerminen, Sini, Martin, Alicia R., Koskela, Jukka, Ruotsalainen, Sanni E., Havulinna, Aki S., Surakka, Ida, Palotie, Aarno, Perola, Markus, Salomaa, Veikko, Daly, Mark J., Ripatti, Samuli, Pirinen, Matti
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
Mitt, Mario, Kals, Mart, Pärn, Kalle, Gabriel, Stacey B, Lander, Eric S, Palotie, Aarno, Ripatti, Samuli, Morris, Andrew P, Metspalu, Andres, Esko, Tõnu, Mägi, Reedik, Palta, Priit
Published in European journal of human genetics : EJHG (01.06.2017)
Published in European journal of human genetics : EJHG (01.06.2017)
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Integrating common and rare genetic variation in diverse human populations
Altshuler, David M, Gibbs, Richard A, Peltonen, Leena, Dermitzakis, Emmanouil, Schaffner, Stephen F, Yu, Fuli, Bonnen, Penelope E, de Bakker, Paul I W, Deloukas, Panos, Gabriel, Stacey B, Gwilliam, Rhian, Hunt, Sarah, Inouye, Michael, Jia, Xiaoming, Palotie, Aarno, Parkin, Melissa, Whittaker, Pamela, Chang, Kyle, Hawes, Alicia, Lewis, Lora R, Ren, Yanru, Wheeler, David, Muzny, Donna Marie, Barnes, Chris, Darvishi, Katayoon, Hurles, Matthew, Korn, Joshua M, Kristiansson, Kati, Lee, Charles, McCarrol, Steven A, Nemesh, James, Keinan, Alon, Montgomery, Stephen B, Pollack, Samuela, Price, Alkes L, Soranzo, Nicole, Gonzaga-Jauregui, Claudia, Anttila, Verneri, Brodeur, Wendy, Daly, Mark J, Leslie, Stephen, McVean, Gil, Moutsianas, Loukas, Nguyen, Huy, Zhang, Qingrun, Ghori, Mohammed J R, McGinnis, Ralph, McLaren, William, Takeuchi, Fumihiko, Grossman, Sharon R, Shlyakhter, Ilya, Hostetter, Elizabeth B, Sabeti, Pardis C, Adebamowo, Clement A, Foster, Morris W, Gordon, Deborah R, Licinio, Julio, Manca, Maria Cristina, Marshall, Patricia A, Matsuda, Ichiro, Ngare, Duncan, Wang, Vivian Ota, Reddy, Deepa, Rotimi, Charles N, Royal, Charmaine D, Sharp, Richard R, Zeng, Changqing, Brooks, Lisa D, McEwen, Jean E
Published in Nature (London) (02.09.2010)
Published in Nature (London) (02.09.2010)
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Biomarker profiling by nuclear magnetic resonance spectroscopy for the prediction of all-cause mortality: an observational study of 17,345 persons
Fischer, Krista, Kettunen, Johannes, Würtz, Peter, Haller, Toomas, Havulinna, Aki S, Kangas, Antti J, Soininen, Pasi, Esko, Tõnu, Tammesoo, Mari-Liis, Mägi, Reedik, Smit, Steven, Palotie, Aarno, Ripatti, Samuli, Salomaa, Veikko, Ala-Korpela, Mika, Perola, Markus, Metspalu, Andres
Published in PLoS medicine (01.02.2014)
Published in PLoS medicine (01.02.2014)
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Exome sequencing of Finnish isolates enhances rare-variant association power
Locke, Adam E., Steinberg, Karyn Meltz, Chiang, Charleston W. K., Service, Susan K., Havulinna, Aki S., Stell, Laurel, Pirinen, Matti, Abel, Haley J., Chiang, Colby C., Fulton, Robert S., Jackson, Anne U., Kang, Chul Joo, Kanchi, Krishna L., Koboldt, Daniel C., Larson, David E., Nelson, Joanne, Nicholas, Thomas J., Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J., Stringham, Heather M., Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G., Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K., Stitziel, Nathan O., Wilson, Richard K., Hall, Ira M., Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B.
Published in Nature (London) (15.08.2019)
Published in Nature (London) (15.08.2019)
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R
Published in Nature genetics (01.04.2015)
Published in Nature genetics (01.04.2015)
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ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease
Helkkula, Pyry, Kiiskinen, Tuomo, Havulinna, Aki S, Karjalainen, Juha, Koskinen, Seppo, Salomaa, Veikko, Daly, Mark J, Palotie, Aarno, Surakka, Ida, Ripatti, Samuli
Published in PLoS genetics (28.04.2021)
Published in PLoS genetics (28.04.2021)
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A genetic study of Wilson's disease in the United Kingdom
COFFEY, Alison J, DURKIE, Miranda, MIELI-VERGANI, Giorgina, KIRK, Richard, ELIZABETH ALLEN, K, NICHOLL, David, WONG, Siew, GRIFFITHS, William, SMITHSON, Sarah, GIFFIN, Nicola, TAHA, Ali, CONNOLLY, Sally, HAGUE, Stephen, GILLETT, Godfrey T, TANNER, Stuart, BONHAM, Jim, SHARRACK, Basil, PALOTIE, Aarno, RATTRAY, Magnus, DALTON, Ann, BANDMANN, Oliver, MCLAY, Kirsten, EMMERSON, Jennifer, LO, Christine, KLAFFKE, Stefanie, JOYCE, Christopher J, DHAWAN, Anil, HADZIC, Nedim
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Phenome-wide association studies across large population cohorts support drug target validation
Diogo, Dorothée, Tian, Chao, Franklin, Christopher S., Alanne-Kinnunen, Mervi, March, Michael, Spencer, Chris C. A., Vangjeli, Ciara, Weale, Michael E., Mattsson, Hannele, Kilpeläinen, Elina, Sleiman, Patrick M. A., Reilly, Dermot F., McElwee, Joshua, Maranville, Joseph C., Chatterjee, Arnaub K., Bhandari, Aman, Nguyen, Khanh-Dung H., Estrada, Karol, Reeve, Mary-Pat, Hutz, Janna, Bing, Nan, John, Sally, MacArthur, Daniel G., Salomaa, Veikko, Ripatti, Samuli, Hakonarson, Hakon, Daly, Mark J., Palotie, Aarno, Hinds, David A., Donnelly, Peter, Fox, Caroline S., Day-Williams, Aaron G., Plenge, Robert M., Runz, Heiko
Published in Nature communications (16.10.2018)
Published in Nature communications (16.10.2018)
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Identification of pathogenic variant enriched regions across genes and gene families
Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O, Castrillon, Jessica A, O'Donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
Published in Genome research (01.01.2020)
Published in Genome research (01.01.2020)
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Genome-wide association analysis identifies susceptibility loci for migraine without aura
Freilinger, Tobias, Anttila, Verneri, de Vries, Boukje, Malik, Rainer, Kallela, Mikko, Terwindt, Gisela M, Pozo-Rosich, Patricia, Winsvold, Bendik, Nyholt, Dale R, van Oosterhout, Willebrordus P J, Artto, Ville, Todt, Unda, Hämäläinen, Eija, Fernández-Morales, Jèssica, Louter, Mark A, Kaunisto, Mari A, Schoenen, Jean, Raitakari, Olli, Lehtimäki, Terho, Vila-Pueyo, Marta, Göbel, Hartmut, Wichmann, Erich, Sintas, Cèlia, Uitterlinden, Andre G, Hofman, Albert, Rivadeneira, Fernando, Heinze, Axel, Tronvik, Erling, van Duijn, Cornelia M, Kaprio, Jaakko, Cormand, Bru, Wessman, Maija, Frants, Rune R, Meitinger, Thomas, Müller-Myhsok, Bertram, Zwart, John-Anker, Färkkilä, Markus, Macaya, Alfons, Ferrari, Michel D, Kubisch, Christian, Palotie, Aarno, Dichgans, Martin, van den Maagdenberg, Arn M J M
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events
Heyne, Henrike O., Pajuste, Fanny-Dhelia, Wanner, Julian, Daniel Onwuchekwa, Jennifer I., Mägi, Reedik, Palotie, Aarno, Kälviainen, Reetta, Daly, Mark J.
Published in Nature communications (25.07.2024)
Published in Nature communications (25.07.2024)
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Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
Kaasinen, Eevi, Kuismin, Outi, Rajamäki, Kristiina, Ristolainen, Heikki, Aavikko, Mervi, Kondelin, Johanna, Saarinen, Silva, Berta, Davide G., Katainen, Riku, Hirvonen, Elina A. M., Karhu, Auli, Taira, Aurora, Tanskanen, Tomas, Alkodsi, Amjad, Taipale, Minna, Morgunova, Ekaterina, Franssila, Kaarle, Lehtonen, Rainer, Mäkinen, Markus, Aittomäki, Kristiina, Palotie, Aarno, Kurki, Mitja I., Pietiläinen, Olli, Hilpert, Morgane, Saarentaus, Elmo, Niinimäki, Jaakko, Junttila, Juhani, Kaikkonen, Kari, Vahteristo, Pia, Skoda, Radek C., Seppänen, Mikko R. J., Eklund, Kari K., Taipale, Jussi, Kilpivaara, Outi, Aaltonen, Lauri A.
Published in Nature communications (19.03.2019)
Published in Nature communications (19.03.2019)
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