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Publications

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

Author(s): Barbara Schormair, Chen Zhao, Steven Bell, Erik Tilch, Aaro V Salminen, Benno Pütz, Yves Dauvilliers, Ambra Stefani, Birgit Högl, Werner Poewe, David Kemlink, Karel Sonka, Cornelius G Bachmann, Walter Paulus, Claudia Trenkwalder, Wolfgang H Oertel, Magdolna Hornyak, Maris Teder-Laving, Andres Metspalu, Georgios M Hadjigeorgiou, Olli Polo, Ingo Fietze, Owen A Ross, Zbigniew Wszolek, Adam S Butter
Published in: The Lancet Neurology, Issue 16/11, 2017, Page(s) 898-907, ISSN 1474-4422
DOI: 10.1016/S1474-4422(17)30327-7

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Author(s): Linda M. Polfus, Rajiv K. Khajuria, Ursula M. Schick, Nathan Pankratz, Raha Pazoki, Jennifer A. Brody, Ming-Huei Chen, Paul L. Auer, James S. Floyd, Jie Huang, Leslie Lange, Frank J.A. van Rooij, Richard A. Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Klaudia Walter, Lu Chen, Lisa Yanek, Lewis C. Becker, Gina M. Peloso, Aoi Wakabayashi, Mart Kals, Andres Metspalu, Tõnu
Published in: The American Journal of Human Genetics, Issue 99/3, 2016, Page(s) 785, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2016.08.002

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Author(s): Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Cotton Seed, Jason Ernst, Mark Chaffin, Jesse Engreitz, Gina M. Peloso, Ani Manichaikul, Chaojie Yang, Kathleen A. Ryan, Mao Fu, W. Craig Johnson, Michael Tsai, Matthew Budoff, Ramachandran S. Vasan, L. Adrienne Cupples, Jerome I. Rotter, Stephen S. Rich, Wendy Post, Braxton D. Mitchell, Adol
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-04668-w

Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions

Author(s): Dmitry Shungin, Wei Q. Deng, Tibor V. Varga, Jian'an Luan, Evelin Mihailov, Andres Metspalu, Andrew P. Morris, Nita G. Forouhi, Cecilia Lindgren, Patrik K. E. Magnusson, Nancy L. Pedersen, Göran Hallmans, Audrey Y. Chu, Anne E. Justice, Mariaelisa Graff, Thomas W. Winkler, Lynda M. Rose, Claudia Langenberg, L. Adrienne Cupples, Paul M. Ridker, Nicholas J. Wareham, Ken K. Ong, Ruth J. F. Loos, Dan
Published in: PLOS Genetics, Issue 13/6, 2017, Page(s) e1006812, ISSN 1553-7390
DOI: 10.1371/journal.pgen.1006812

Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy

Author(s): Sean G. Byars, Qin Qin Huang, Lesley-Ann Gray, Andrew Bakshi, Samuli Ripatti, Gad Abraham, Stephen C. Stearns, Michael Inouye
Published in: PLOS Genetics, Issue 13/6, 2017, Page(s) e1006328, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1006328

Smoking-related general and cause-specific mortality in Estonia

Author(s): Gea Kõks, Krista Fischer, Sulev Kõks
Published in: BMC Public Health, Issue 18/1, 2018, ISSN 1471-2458
DOI: 10.1186/s12889-017-4590-3

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

Author(s): Laramie Duncan, Zeynep Yilmaz, Helena Gaspar, Raymond Walters, Jackie Goldstein, Verneri Anttila, Brendan Bulik-Sullivan, Stephan Ripke, Laura Thornton, Anke Hinney, Mark Daly, Patrick F. Sullivan, Eleftheria Zeggini, Gerome Breen, Cynthia M. Bulik, Laramie Duncan, Zeynep Yilmaz, Héléna Gaspar, Raymond Walters, Jackie Goldstein, Verneri Anttila, Brendan Bulik-Sullivan, Stephan Ripke, Roger Adan,
Published in: American Journal of Psychiatry, Issue 174/9, 2017, Page(s) 850-858, ISSN 0002-953X
DOI: 10.1176/appi.ajp.2017.16121402

C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis

Author(s): Kaido Lepik, Tarmo Annilo, Viktorija Kukuškina, Kai Kisand, Zoltán Kutalik, Pärt Peterson, Hedi Peterson
Published in: PLOS Computational Biology, Issue 13/9, 2017, Page(s) e1005766, ISSN 1553-7358
DOI: 10.1371/journal.pcbi.1005766

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

Author(s): Felix Day, Tugce Karaderi, Michelle R. Jones, Cindy Meun, Chunyan He, Alex Drong, Peter Kraft, Nan Lin, Hongyan Huang, Linda Broer, Reedik Magi, Richa Saxena, Triin Laisk, Margrit Urbanek, M. Geoffrey Hayes, Gudmar Thorleifsson, Juan Fernandez-Tajes, Anubha Mahajan, Benjamin H. Mullin, Bronwyn G. A. Stuckey, Timothy D. Spector, Scott G. Wilson, Mark O. Goodarzi, Lea Davis, Barbara Obermayer-Pietsc
Published in: PLOS Genetics, Issue 14/12, 2018, Page(s) e1007813, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1007813

An interaction map of circulating metabolites, immune gene networks, and their genetic regulation

Author(s): Artika P. Nath, Scott C. Ritchie, Sean G. Byars, Liam G. Fearnley, Aki S. Havulinna, Anni Joensuu, Antti J. Kangas, Pasi Soininen, Annika Wennerström, Lili Milani, Andres Metspalu, Satu Männistö, Peter Würtz, Johannes Kettunen, Emma Raitoharju, Mika Kähönen, Markus Juonala, Aarno Palotie, Mika Ala-Korpela, Samuli Ripatti, Terho Lehtimäki, Gad Abraham, Olli Raitakari, Veikko Salomaa, Markus
Published in: Genome Biology, Issue 18/1, 2017, ISSN 1474-760X
DOI: 10.1186/s13059-017-1279-y

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

Author(s): Reedik Mägi, Momoko Horikoshi, Tamar Sofer, Anubha Mahajan, Hidetoshi Kitajima, Nora Franceschini, Mark I. McCarthy, Andrew P. Morris
Published in: Human Molecular Genetics, Issue 26/18, 2017, Page(s) 3639-3650, ISSN 0964-6906
DOI: 10.1093/hmg/ddx280

Circulating metabolic biomarkers of renal function in diabetic and non-diabetic populations

Author(s): Clara Barrios, Jonas Zierer, Peter Würtz, Toomas Haller, Andres Metspalu, Christian Gieger, Barbara Thorand, Christa Meisinger, Melanie Waldenberger, Olli Raitakari, Terho Lehtimäki, Sol Otero, Eva Rodríguez, Juan Pedro-Botet, Mika Kähönen, Mika Ala-Korpela, Gabi Kastenmüller, Tim D. Spector, Julio Pascual, Cristina Menni
Published in: Scientific Reports, Issue 8/1, 2018, ISSN 2045-2322
DOI: 10.1038/s41598-018-33507-7

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Author(s): Evangelos Evangelou, Helen R. Warren, David Mosen-Ansorena, Borbala Mifsud, Raha Pazoki, He Gao, Georgios Ntritsos, Niki Dimou, Claudia P. Cabrera, Ibrahim Karaman, Fu Liang Ng, Marina Evangelou, Katarzyna Witkowska, Evan Tzanis, Jacklyn N. Hellwege, Ayush Giri, Digna R. Velez Edwards, Yan V. Sun, Kelly Cho, J. Michael Gaziano, Peter W. F. Wilson, Philip S. Tsao, Csaba P. Kovesdy, Tonu Esko, Reedi
Published in: Nature Genetics, Issue 50/10, 2018, Page(s) 1412-1425, ISSN 1061-4036
DOI: 10.1038/s41588-018-0205-x

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Author(s): Douglas M. Ruderfer, Stephan Ripke, Andrew McQuillin, James Boocock, Eli A. Stahl, Jennifer M. Whitehead Pavlides, Niamh Mullins, Alexander W. Charney, Anil P.S. Ori, Loes M. Olde Loohuis, Enrico Domenici, Arianna Di Florio, Sergi Papiol, Janos L. Kalman, Vassily Trubetskoy, Rolf Adolfsson, Ingrid Agartz, Esben Agerbo, Huda Akil, Diego Albani, Margot Albus, Martin Alda, Madeline Alexander, Ney All
Published in: Cell, Issue 173/7, 2018, Page(s) 1705-1715.e16, ISSN 0092-8674
DOI: 10.1016/j.cell.2018.05.046

Genetic risk scores and family history as predictors of schizophrenia in Nordic registers

Author(s): Y. Lu, J. G. Pouget, O. A. Andreassen, S. Djurovic, T. Esko, C. M. Hultman, A. Metspalu, L. Milani, T. Werge, P. F. Sullivan
Published in: Psychological Medicine, Issue 48/07, 2018, Page(s) 1201-1208, ISSN 0033-2917
DOI: 10.1017/s0033291717002665

GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia

Author(s): Joëlle A. Pasman, Karin J. H. Verweij, Zachary Gerring, Sven Stringer, Sandra Sanchez-Roige, Jorien L. Treur, Abdel Abdellaoui, Michel G. Nivard, Bart M. L. Baselmans, Jue-Sheng Ong, Hill F. Ip, Matthijs D. van der Zee, Meike Bartels, Felix R. Day, Pierre Fontanillas, Sarah L. Elson, Harriet de Wit, Lea K. Davis, James MacKillop, Jaime L. Derringer, Susan J. T. Branje, Catharina A. Hartman, Andre
Published in: Nature Neuroscience, Issue 21/9, 2018, Page(s) 1161-1170, ISSN 1097-6256
DOI: 10.1038/s41593-018-0206-1

Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length

Author(s): Triin Laisk, Viktorija Kukuškina, Duncan Palmer, Samantha Laber, Chia-Yen Chen, Teresa Ferreira, Nilufer Rahmioglu, Krina Zondervan, Christian Becker, Jordan W Smoller, Margaret Lippincott, Andres Salumets, Ingrid Granne, Stephanie Seminara, Benjamin Neale, Reedik Mägi, Cecilia M Lindgren
Published in: Human Molecular Genetics, Issue 27(24), 2018, Page(s) 4323-4332, ISSN 0964-6906
DOI: 10.1093/hmg/ddy317

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

Author(s): James J. Lee, Robbee Wedow, Aysu Okbay, Edward Kong, Omeed Maghzian, Meghan Zacher, Tuan Anh Nguyen-Viet, Peter Bowers, Julia Sidorenko, Richard Karlsson Linnér, Mark Alan Fontana, Tushar Kundu, Chanwook Lee, Hui Li, Ruoxi Li, Rebecca Royer, Pascal N. Timshel, Raymond K. Walters, Emily A. Willoughby, Loïc Yengo, Maris Alver, Yanchun Bao, David W. Clark, Felix R. Day, Nicholas A. Furlotte, Peter
Published in: Nature Genetics, Issue 50/8, 2018, Page(s) 1112-1121, ISSN 1061-4036
DOI: 10.1038/s41588-018-0147-3

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Author(s): Symen Ligthart, Ahmad Vaez, Urmo Võsa, Maria G. Stathopoulou, Paul S. de Vries, Bram P. Prins, Peter J. Van der Most, Toshiko Tanaka, Elnaz Naderi, Lynda M. Rose, Ying Wu, Robert Karlsson, Maja Barbalic, Honghuang Lin, René Pool, Gu Zhu, Aurélien Macé, Carlo Sidore, Stella Trompet, Massimo Mangino, Maria Sabater-Lleal, John P. Kemp, Ali Abbasi, Tim Kacprowski, Niek Verweij, Albert V. Smith, Ta
Published in: The American Journal of Human Genetics, Issue 103/5, 2018, Page(s) 691-706, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2018.09.009

Genome-wide analysis of nuclear magnetic resonance metabolites revealed parent-of-origin effect on triglycerides in medium very low-density lipoprotein in PTPRD gene

Author(s): N Pervjakova, V Kukushkina, T Haller, S Kasela, A Joensuu, K Kristiansson, T Annilo, M Perola, V Salomaa, P Jousilahti, A Metspalu, R Mägi
Published in: Biomarkers in Medicine, Issue 12/5, 2018, Page(s) 439-446, ISSN 1752-0363
DOI: 10.2217/bmm-2018-0020

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

Author(s): Pradeep Natarajan, Gina M. Peloso, Seyedeh Maryam Zekavat, May Montasser, Andrea Ganna, Mark Chaffin, Amit V. Khera, Wei Zhou, Jonathan M. Bloom, Jesse M. Engreitz, Jason Ernst, Jeffrey R. O’Connell, Sanni E. Ruotsalainen, Maris Alver, Ani Manichaikul, W. Craig Johnson, James A. Perry, Timothy Poterba, Cotton Seed, Ida L. Surakka, Tonu Esko, Samuli Ripatti, Veikko Salomaa, Adolfo Correa, Ramacha
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-05747-8

The risk-treatment paradox in non-ST-elevation myocardial infarction patients according to their estimated GRACE risk

Author(s): Aet Saar, Toomas Marandi, Tiia Ainla, Krista Fischer, Mai Blöndal, Jaan Eha
Published in: International Journal of Cardiology, Issue 272, 2018, Page(s) 26-32, ISSN 0167-5273
DOI: 10.1016/j.ijcard.2018.08.015

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries

Author(s): Mary F. Feitosa, Aldi T. Kraja, Daniel I. Chasman, Yun J. Sung, Thomas W. Winkler, Ioanna Ntalla, Xiuqing Guo, Nora Franceschini, Ching-Yu Cheng, Xueling Sim, Dina Vojinovic, Jonathan Marten, Solomon K. Musani, Changwei Li, Amy R. Bentley, Michael R. Brown, Karen Schwander, Melissa A. Richard, Raymond Noordam, Hugues Aschard, Traci M. Bartz, Lawrence F. Bielak, Rajkumar Dorajoo, Virginia Fisher, F
Published in: PLOS ONE, Issue 13/6, 2018, Page(s) e0198166, ISSN 1932-6203
DOI: 10.1371/journal.pone.0198166

GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk

Author(s): Nicola Pirastu, Peter K. Joshi, Paul S. de Vries, Marilyn C. Cornelis, Paul M. McKeigue, NaNa Keum, Nora Franceschini, Marco Colombo, Edward L. Giovannucci, Athina Spiliopoulou, Lude Franke, Kari E. North, Peter Kraft, Alanna C. Morrison, Tõnu Esko, James F. Wilson
Published in: Nature Communications, Issue 8/1, 2017, ISSN 2041-1723
DOI: 10.1038/s41467-017-01490-8

Multi-ethnic genome-wide association study for atrial fibrillation

Author(s): Carolina Roselli, Mark D. Chaffin, Lu-Chen Weng, Stefanie Aeschbacher, Gustav Ahlberg, Christine M. Albert, Peter Almgren, Alvaro Alonso, Christopher D. Anderson, Krishna G. Aragam, Dan E. Arking, John Barnard, Traci M. Bartz, Emelia J. Benjamin, Nathan A. Bihlmeyer, Joshua C. Bis, Heather L. Bloom, Eric Boerwinkle, Erwin B. Bottinger, Jennifer A. Brody, Hugh Calkins, Archie Campbell, Thomas P. Ca
Published in: Nature Genetics, Issue 50/9, 2018, Page(s) 1225-1233, ISSN 1061-4036
DOI: 10.1038/s41588-018-0133-9

Pharmacogenomic Biomarkers for Improved Drug Therapy—Recent Progress and Future Developments

Author(s): Volker M. Lauschke, Lili Milani, Magnus Ingelman-Sundberg
Published in: The AAPS Journal, Issue 20/1, 2018, Page(s) 1-16, ISSN 1550-7416
DOI: 10.1208/s12248-017-0161-x

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

Author(s): Alicia R. Martin, Konrad J. Karczewski, Sini Kerminen, Mitja I. Kurki, Antti-Pekka Sarin, Mykyta Artomov, Johan G. Eriksson, Tõnu Esko, Giulio Genovese, Aki S. Havulinna, Jaakko Kaprio, Alexandra Konradi, László Korányi, Anna Kostareva, Minna Männikkö, Andres Metspalu, Markus Perola, Rashmi B. Prasad, Olli Raitakari, Oxana Rotar, Veikko Salomaa, Leif Groop, Aarno Palotie, Benjamin M. Neale,
Published in: The American Journal of Human Genetics, Issue 102/5, 2018, Page(s) 760-775, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2018.03.003

Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients

Author(s): Matthew T. Patrick, Philip E. Stuart, Kalpana Raja, Johann E. Gudjonsson, Trilokraj Tejasvi, Jingjing Yang, Vinod Chandran, Sayantan Das, Kristina Callis-Duffin, Eva Ellinghaus, Charlotta Enerbäck, Tõnu Esko, Andre Franke, Hyun M. Kang, Gerald G. Krueger, Henry W. Lim, Proton Rahman, Cheryl F. Rosen, Stephan Weidinger, Michael Weichenthal, Xiaoquan Wen, John J. Voorhees, Gonçalo R. Abecasis, Da
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-06672-6

Genetic influence on social outcomes during and after the Soviet era in Estonia

Author(s): Kaili Rimfeld, Eva Krapohl, Maciej Trzaskowski, Jonathan R. I. Coleman, Saskia Selzam, Philip S. Dale, Tonu Esko, Andres Metspalu, Robert Plomin
Published in: Nature Human Behaviour, Issue 2/4, 2018, Page(s) 269-275, ISSN 2397-3374
DOI: 10.1038/s41562-018-0332-5

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Author(s): Anubha Mahajan, Jennifer Wessel, Sara M. Willems, Wei Zhao, Neil R. Robertson, Audrey Y. Chu, Wei Gan, Hidetoshi Kitajima, Daniel Taliun, N. William Rayner, Xiuqing Guo, Yingchang Lu, Man Li, Richard A. Jensen, Yao Hu, Shaofeng Huo, Kurt K. Lohman, Weihua Zhang, James P. Cook, Bram Peter Prins, Jason Flannick, Niels Grarup, Vassily Vladimirovich Trubetskoy, Jasmina Kravic, Young Jin Kim, Denis V.
Published in: Nature Genetics, Issue 50/4, 2018, Page(s) 559-571, ISSN 1061-4036
DOI: 10.1038/s41588-018-0084-1

Reply to ‘Misestimation of heritability and prediction accuracy of male-pattern baldness’

Author(s): Nicola Pirastu, Peter K. Joshi, Paul S. de Vries, Marilyn C. Cornelis, NaNa Keum, Nora Franceschini, Marco Colombo, Edward L. Giovannucci, Athina Spiliopoulou, Lude Franke, Kari E. North, Peter Kraft, Alanna C. Morrison, Tõnu Esko, James F. Wilson
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-04808-2

Age at first birth in women is genetically associated with increased risk of schizophrenia

Author(s): Guiyan Ni, Jacob Gratten, Naomi R. Wray, Sang Hong Lee
Published in: Scientific Reports, Issue 8/1, 2018, ISSN 2045-2322
DOI: 10.1038/s41598-018-28160-z

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

Author(s): Guiyan Ni, Gerhard Moser, Naomi R. Wray, S. Hong Lee, Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T.R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A. Belliveau, Judit Bene, Sarah E. Bergen, El
Published in: The American Journal of Human Genetics, Issue 102/6, 2018, Page(s) 1185-1194, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2018.03.021

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Author(s): Priyanka Parmar, Estelle Lowry, Giovanni Cugliari, Matthew Suderman, Rory Wilson, Ville Karhunen, Toby Andrew, Petri Wiklund, Matthias Wielscher, Simonetta Guarrera, Alexander Teumer, Benjamin Lehne, Lili Milani, Niek de Klein, Pashupati P. Mishra, Phillip E. Melton, Pooja R. Mandaviya, Silva Kasela, Jana Nano, Weihua Zhang, Yan Zhang, Andre G. Uitterlinden, Annette Peters, Ben Schöttker, Christi
Published in: EBioMedicine, Issue 38, 2018, Page(s) 206-216, ISSN 2352-3964
DOI: 10.1016/j.ebiom.2018.10.066

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Author(s): Anubha Mahajan, Daniel Taliun, Matthias Thurner, Neil R. Robertson, Jason M. Torres, N. William Rayner, Anthony J. Payne, Valgerdur Steinthorsdottir, Robert A. Scott, Niels Grarup, James P. Cook, Ellen M. Schmidt, Matthias Wuttke, Chloé Sarnowski, Reedik Mägi, Jana Nano, Christian Gieger, Stella Trompet, Cécile Lecoeur, Michael H. Preuss, Bram Peter Prins, Xiuqing Guo, Lawrence F. Bielak, Jenni
Published in: Nature Genetics, Issue 50/11, 2018, Page(s) 1505-1513, ISSN 1061-4036
DOI: 10.1038/s41588-018-0241-6

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

Author(s): Ting Qi, Yang Wu, Jian Zeng, Futao Zhang, Angli Xue, Longda Jiang, Zhihong Zhu, Kathryn Kemper, Loic Yengo, Zhili Zheng, Riccardo E. Marioni, Grant W. Montgomery, Ian J. Deary, Naomi R. Wray, Peter M. Visscher, Allan F. McRae, Jian Yang
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-04558-1

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

Author(s): Martin Sauk, Olga Žilina, Ants Kurg, Eva-Liina Ustav, Maire Peters, Priit Paluoja, Anne Mari Roost, Hindrek Teder, Priit Palta, Nathalie Brison, Joris R. Vermeesch, Kaarel Krjutškov, Andres Salumets, Lauris Kaplinski
Published in: Scientific Reports, Issue 8/1, 2018, ISSN 2045-2322
DOI: 10.1038/s41598-018-23589-8

Molecular genetic overlap between migraine and major depressive disorder

Author(s): Yuanhao Yang, Huiying Zhao, Dorret I Boomsma, Lannie Ligthart, Andrea C. Belin, George Davey Smith, Tonu Esko, Tobias M. Freilinger, Thomas Folkmann Hansen, M. Arfan Ikram, Mikko Kallela, Christian Kubisch, Christofidou Paraskevi, David P. Strachan, Maija Wessman, Arn M. J. M. van den Maagdenberg, Gisela M. Terwindt, Dale R. Nyholt
Published in: European Journal of Human Genetics, Issue 26/8, 2018, Page(s) 1202-1216, ISSN 1018-4813
DOI: 10.1038/s41431-018-0150-2

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk

Author(s): Yitian Zhou, Reedik Mägi, Lili Milani, Volker M. Lauschke
Published in: Journal of Lipid Research, Issue 59/10, 2018, Page(s) 1987-2000, ISSN 0022-2275
DOI: 10.1194/jlr.p086710

Hidden heritability due to heterogeneity across seven populations

Author(s): Felix C. Tropf, S. Hong Lee, Renske M. Verweij, Gert Stulp, Peter J. van der Most, Ronald de Vlaming, Andrew Bakshi, Daniel A. Briley, Charles Rahal, Robert Hellpap, Anastasia N. Iliadou, Tõnu Esko, Andres Metspalu, Sarah E. Medland, Nicholas G. Martin, Nicola Barban, Harold Snieder, Matthew R. Robinson, Melinda C. Mills
Published in: Nature Human Behaviour, Issue 1/10, 2017, Page(s) 757-765, ISSN 2397-3374
DOI: 10.1038/s41562-017-0195-1

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

Author(s): Angli Xue, Yang Wu, Zhihong Zhu, Futao Zhang, Kathryn E. Kemper, Zhili Zheng, Loic Yengo, Luke R. Lloyd-Jones, Julia Sidorenko, Yeda Wu, Allan F. McRae, Peter M. Visscher, Jian Zeng, Jian Yang
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-04951-w

Signatures of negative selection in the genetic architecture of human complex traits

Author(s): Jian Zeng, Ronald de Vlaming, Yang Wu, Matthew R. Robinson, Luke R. Lloyd-Jones, Loic Yengo, Chloe X. Yap, Angli Xue, Julia Sidorenko, Allan F. McRae, Joseph E. Powell, Grant W. Montgomery, Andres Metspalu, Tonu Esko, Greg Gibson, Naomi R. Wray, Peter M. Visscher, Jian Yang
Published in: Nature Genetics, Issue 50/5, 2018, Page(s) 746-753, ISSN 1061-4036
DOI: 10.1038/s41588-018-0101-4

IgG glycosylation and DNA methylation are interconnected with smoking

Author(s): Annika Wahl, Silva Kasela, Elena Carnero-Montoro, Maarten van Iterson, Jerko Štambuk, Sapna Sharma, Erik van den Akker, Lucija Klaric, Elisa Benedetti, Genadij Razdorov, Irena Trbojević-Akmačić, Frano Vučković, Ivo Ugrina, Marian Beekman, Joris Deelen, Diana van Heemst, Bastiaan T. Heijmans, B.I.O.S. Consortium, Manfred Wuhrer, Rosina Plomp, Toma Keser, Mirna Šimurina, Tamara Pavić, Ivan
Published in: Biochimica et Biophysica Acta (BBA) - General Subjects, Issue 1862/3, 2018, Page(s) 637-648, ISSN 0304-4165
DOI: 10.1016/j.bbagen.2017.10.012

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

Author(s): Valtter B. Virtanen, Perttu P. Salo, Jia Cao, Anna Löf-Granström, Lili Milani, Andres Metspalu, Risto J. Rintala, Outi Saarenpää-Heikkilä, Tiina Paunio, Tomas Wester, Agneta Nordenskjöld, Markus Perola, Mikko P. Pakarinen
Published in: European Journal of Medical Genetics, 2018, ISSN 1769-7212
DOI: 10.1016/j.ejmg.2018.07.019

Interethnic analyses of blood pressure loci in populations of East Asian and European descent

Author(s): Fumihiko Takeuchi, Masato Akiyama, Nana Matoba, Tomohiro Katsuya, Masahiro Nakatochi, Yasuharu Tabara, Akira Narita, Woei-Yuh Saw, Sanghoon Moon, Cassandra N. Spracklen, Jin-Fang Chai, Young-Jin Kim, Liang Zhang, Chaolong Wang, Huaixing Li, Honglan Li, Jer-Yuarn Wu, Rajkumar Dorajoo, Jovia L. Nierenberg, Ya Xing Wang, Jing He, Derrick A. Bennett, Atsushi Takahashi, Yukihide Momozawa, Makoto Hirata
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-07345-0

Endometrial receptivity revisited: endometrial transcriptome adjusted for tissue cellular heterogeneity

Author(s): Marina Suhorutshenko, Viktorija Kukushkina, Agne Velthut-Meikas, Signe Altmäe, Maire Peters, Reedik Mägi, Kaarel Krjutškov, Mariann Koel, Francisco M Codoñer, Juan Fco Martinez-Blanch, Felipe Vilella, Carlos Simón, Andres Salumets, Triin Laisk
Published in: Human Reproduction, Issue 33/11, 2018, Page(s) 2074-2086, ISSN 0268-1161
DOI: 10.1093/humrep/dey301

Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: a pooled analysis of 1018 population-based measurement studies with 88.6 million participants

Author(s): Bin Zhou, James Bentham, Mariachiara Di Cesare, Honor Bixby, Goodarz Danaei, Kaveh Hajifathalian, Cristina Taddei, Rodrigo M Carrillo-Larco, Shirin Djalalinia, Shahab Khatibzadeh, Charles Lugero, Niloofar Peykari, Wan Zhu Zhang, James Bennett, Ver Bilano, Gretchen A Stevens, Melanie J Cowan, Leanne M Riley, Zhengming Chen, Ian R Hambleton, Rod T Jackson, Andre Pascal Kengne, Young-Ho Khang, Avula
Published in: International Journal of Epidemiology, Issue 47/3, 2018, Page(s) 872-883i, ISSN 0300-5771
DOI: 10.1093/ije/dyy016

Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations

Author(s): Kristiina Tambets, Bayazit Yunusbayev, Georgi Hudjashov, Anne-Mai Ilumäe, Siiri Rootsi, Terhi Honkola, Outi Vesakoski, Quentin Atkinson, Pontus Skoglund, Alena Kushniarevich, Sergey Litvinov, Maere Reidla, Ene Metspalu, Lehti Saag, Timo Rantanen, Monika Karmin, Jüri Parik, Sergey I. Zhadanov, Marina Gubina, Larisa D. Damba, Marina Bermisheva, Tuuli Reisberg, Khadizhat Dibirova, Irina Evseeva, Ma
Published in: Genome Biology, Issue 19/1, 2018, Page(s) 1-20, ISSN 1474-760X
DOI: 10.1186/s13059-018-1522-1

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Author(s): Milly S. Tedja, Robert Wojciechowski, Pirro G. Hysi, Nicholas Eriksson, Nicholas A. Furlotte, Virginie J. M. Verhoeven, Adriana I. Iglesias, Magda A. Meester-Smoor, Stuart W. Tompson, Qiao Fan, Anthony P. Khawaja, Ching-Yu Cheng, René Höhn, Kenji Yamashiro, Adam Wenocur, Clare Grazal, Toomas Haller, Andres Metspalu, Juho Wedenoja, Jost B. Jonas, Ya Xing Wang, Jing Xie, Paul Mitchell, Paul J. Fos
Published in: Nature Genetics, Issue 50/6, 2018, Page(s) 834-848, ISSN 1061-4036
DOI: 10.1038/s41588-018-0127-7

Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study

Author(s): Katerina Trajanoska, John A Morris, Ling Oei, Hou-Feng Zheng, David M Evans, Douglas P Kiel, Claes Ohlsson, J Brent Richards, Fernando Rivadeneira
Published in: BMJ, Issue BMJ 2018; 362, 2018, Page(s) k3225, ISSN 0959-8138
DOI: 10.1136/bmj.k3225

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author(s): Valérie Turcot, Yingchang Lu, Heather M. Highland, Claudia Schurmann, Anne E. Justice, Rebecca S. Fine, Jonathan P. Bradfield, Tõnu Esko, Ayush Giri, Mariaelisa Graff, Xiuqing Guo, Audrey E. Hendricks, Tugce Karaderi, Adelheid Lempradl, Adam E. Locke, Anubha Mahajan, Eirini Marouli, Suthesh Sivapalaratnam, Kristin L. Young, Tamuno Alfred, Mary F. Feitosa, Nicholas G. D. Masca, Alisa K. Manning,
Published in: Nature Genetics, Issue 50/1, 2018, Page(s) 26-41, ISSN 1061-4036
DOI: 10.1038/s41588-017-0011-x

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Author(s): Naomi R. Wray, Stephan Ripke, Manuel Mattheisen, Maciej Trzaskowski, Enda M. Byrne, Abdel Abdellaoui, Mark J. Adams, Esben Agerbo, Tracy M. Air, Till M. F. Andlauer, Silviu-Alin Bacanu, Marie Bækvad-Hansen, Aartjan F. T. Beekman, Tim B. Bigdeli, Elisabeth B. Binder, Douglas R. H. Blackwood, Julien Bryois, Henriette N. Buttenschøn, Jonas Bybjerg-Grauholm, Na Cai, Enrique Castelao, Jane Hvarregaar
Published in: Nature Genetics, Issue 50/5, 2018, Page(s) 668-681, ISSN 1061-4036
DOI: 10.1038/s41588-018-0090-3

TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting

Author(s): Hindrek Teder, Mariann Koel, Priit Paluoja, Tatjana Jatsenko, Kadri Rekker, Triin Laisk-Podar, Viktorija Kukuškina, Agne Velthut-Meikas, Olga Fjodorova, Maire Peters, Juha Kere, Andres Salumets, Priit Palta, Kaarel Krjutškov
Published in: npj Genomic Medicine, Issue 3/1, 2018, ISSN 2056-7944
DOI: 10.1038/s41525-018-0072-5

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

Author(s): Yun J. Sung, Thomas W. Winkler, Lisa de las Fuentes, Amy R. Bentley, Michael R. Brown, Aldi T. Kraja, Karen Schwander, Ioanna Ntalla, Xiuqing Guo, Nora Franceschini, Yingchang Lu, Ching-Yu Cheng, Xueling Sim, Dina Vojinovic, Jonathan Marten, Solomon K. Musani, Changwei Li, Mary F. Feitosa, Tuomas O. Kilpeläinen, Melissa A. Richard, Raymond Noordam, Stella Aslibekyan, Hugues Aschard, Traci M. Bart
Published in: The American Journal of Human Genetics, Issue 102/3, 2018, Page(s) 375-400, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2018.01.015

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

Author(s): Nathalie Chami, Ming-Huei Chen, Andrew J. Slater, John D. Eicher, Evangelos Evangelou, Salman M. Tajuddin, Latisha Love-Gregory, Tim Kacprowski, Ursula M. Schick, Akihiro Nomura, Ayush Giri, Samuel Lessard, Jennifer A. Brody, Claudia Schurmann, Nathan Pankratz, Lisa R. Yanek, Ani Manichaikul, Raha Pazoki, Evelin Mihailov, W. David Hill, Laura M. Raffield, Amber Burt, Traci M. Bartz, Diane
Published in: The American Journal of Human Genetics, Issue 99/1, 2016, Page(s) 8-21, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2016.05.007

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

Author(s): John D. Eicher, Nathalie Chami, Tim Kacprowski, Akihiro Nomura, Ming-Huei Chen, Lisa R. Yanek, Salman M. Tajuddin, Ursula M. Schick, Andrew J. Slater, Nathan Pankratz, Linda Polfus, Claudia Schurmann, Ayush Giri, Jennifer A. Brody, Leslie A. Lange, Ani Manichaikul, W. David Hill, Raha Pazoki, Paul Elliot, Evangelos Evangelou, Ioanna Tzoulaki, He Gao, Anne-Claire Vergnaud, Rasika A. Mathia
Published in: The American Journal of Human Genetics, Issue 99/1, 2016, Page(s) 40-55, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2016.05.005

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Author(s): Andrea Ganna, Giulio Genovese, Daniel P Howrigan, Andrea Byrnes, Mitja I Kurki, Seyedeh M Zekavat, Christopher W Whelan, Mart Kals, Michel G Nivard, Alex Bloemendal, Jonathan M Bloom, Jacqueline I Goldstein, Timothy Poterba, Cotton Seed, Robert E Handsaker, Pradeep Natarajan, Reedik Mägi, Diane Gage, Elise B Robinson, Andres Metspalu, Veikko Salomaa, Jaana Suvisaari, Shaun M Purcell, Pamela Sklar
Published in: Nature Neuroscience, Issue 19/12, 2016, Page(s) 1563-1565, ISSN 1097-6256
DOI: 10.1038/nn.4404

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Author(s): E. Mihailov, T. Nikopensius, A. Reigo, C. Nikkolo, M. Kals, K. Aruaas, L. Milani, H. Seepter, A. Metspalu
Published in: Hernia, Issue 21/1, 2017, Page(s) 95-100, ISSN 1265-4906
DOI: 10.1007/s10029-016-1491-9

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

Author(s): Praveen Surendran, Fotios Drenos, Robin Young, Helen Warren, James P Cook, Alisa K Manning, Niels Grarup, Xueling Sim, Daniel R Barnes, Kate Witkowska, James R Staley, Vinicius Tragante, Taru Tukiainen, Hanieh Yaghootkar, Nicholas Masca, Daniel F Freitag, Teresa Ferreira, Olga Giannakopoulou, Andrew Tinker, Magdalena Harakalova, Evelin Mihailov, Chunyu Liu, Aldi T Kraja, Sune Fallgaard Nielsen, As
Published in: Nature Genetics, Issue 48/10, 2016, Page(s) 1151-1161, ISSN 1061-4036
DOI: 10.1038/ng.3654

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

Author(s): Salman M. Tajuddin, Ursula M. Schick, John D. Eicher, Nathalie Chami, Ayush Giri, Jennifer A. Brody, W. David Hill, Tim Kacprowski, Jin Li, Leo-Pekka Lyytikäinen, Ani Manichaikul, Evelin Mihailov, Michelle L. O’Donoghue, Nathan Pankratz, Raha Pazoki, Linda M. Polfus, Albert Vernon Smith, Claudia Schurmann, Caterina Vacchi-Suzzi, Dawn M. Waterworth, Evangelos Evangelou, Lisa R. Yanek,
Published in: The American Journal of Human Genetics, Issue 99/1, 2016, Page(s) 22-39, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2016.05.003

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

Author(s): Michael H. Guo, Satish K. Nandakumar, Jacob C. Ulirsch, Seyedeh M. Zekavat, Jason D. Buenrostro, Pradeep Natarajan, Rany M. Salem, Roberto Chiarle, Mario Mitt, Mart Kals, Kalle Pärn, Krista Fischer, Lili Milani, Reedik Mägi, Priit Palta, Stacey B. Gabriel, Andres Metspalu, Eric S. Lander, Sekar Kathiresan, Joel N. Hirschhorn, Tõnu Esko, Vijay G. Sankaran
Published in: Proceedings of the National Academy of Sciences, Issue 114/3, 2017, Page(s) E327-E336, ISSN 0027-8424
DOI: 10.1073/pnas.1619052114

MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies

Author(s): Toomas Haller, Liis Leitsalu, Krista Fischer, Marja-Liisa Nuotio, Tõnu Esko, Dorothea Irene Boomsma, Kirsten Ohm Kyvik, Tim D. Spector, Markus Perola, Andres Metspalu
Published in: PLOS ONE, Issue 12/1, 2017, Page(s) e0170325, ISSN 1932-6203
DOI: 10.1371/journal.pone.0170325

Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells

Author(s): Silva Kasela, Kai Kisand, Liina Tserel, Epp Kaleviste, Anu Remm, Krista Fischer, Tõnu Esko, Harm-Jan Westra, Benjamin P. Fairfax, Seiko Makino, Julian C. Knight, Lude Franke, Andres Metspalu, Pärt Peterson, Lili Milani
Published in: PLOS Genetics, Issue 13/3, 2017, Page(s) e1006643, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1006643

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

Author(s): Nicola Barban, Rick Jansen, Ronald de Vlaming, Ahmad Vaez, Jornt J Mandemakers, Felix C Tropf, Xia Shen, James F Wilson, Daniel I Chasman, Ilja M Nolte, Vinicius Tragante, Sander W van der Laan, John R B Perry, Augustine Kong, Tarunveer S Ahluwalia, Eva Albrecht, Laura Yerges-Armstrong, Gil Atzmon, Kirsi Auro, Kristin Ayers, Andrew Bakshi, Danny Ben-Avraham, Klaus Berger, Aviv Bergman, Lars Bertra
Published in: Nature Genetics, Issue 48/12, 2016, Page(s) 1462-1472, ISSN 1061-4036
DOI: 10.1038/ng.3698

Genetic variants in RBFOX3 are associated with sleep latency

Author(s): Najaf Amin, Karla V Allebrandt, Ashley van der Spek, Bertram Müller-Myhsok, Karin Hek, Maris Teder-Laving, Caroline Hayward, Tõnu Esko, Josine G van Mill, Hamdi Mbarek, Nathaniel F Watson, Scott A Melville, Fabiola M Del Greco, Enda M Byrne, Edwin Oole, Ivana Kolcic, Ting-hsu Chen, Daniel S Evans, Josef Coresh, Nicole Vogelzangs, Juha Karjalainen, Gonneke Willemsen, Sina A Gharib, Lina Zgaga, Ev
Published in: European Journal of Human Genetics, Issue 24/10, 2016, Page(s) 1488-1495, ISSN 1018-4813
DOI: 10.1038/ejhg.2016.31

Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness

Author(s): Tim B. Bigdeli, Stephan Ripke, Silviu-Alin Bacanu, Sang Hong Lee, Naomi R. Wray, Pablo V. Gejman, Marcella Rietschel, Sven Cichon, David St Clair, Aiden Corvin, George Kirov, Andrew McQuillin, Hugh Gurling, Dan Rujescu, Ole A. Andreassen, Thomas Werge, Douglas H. R. Blackwood, Carlos N. Pato, Michele T. Pato, Anil K. Malhotra, Michael C. O'Donovan, Kenneth S. Kendler, Ayman H. Fanous
Published in: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Issue 171/2, 2016, Page(s) 276-289, ISSN 1552-4841
DOI: 10.1002/ajmg.b.32402

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

Author(s): Alejandro Cáceres, Tõnu Esko, Irene Pappa, Armand Gutiérrez, Maria-Jose Lopez-Espinosa, Sabrina Llop, Mariona Bustamante, Henning Tiemeier, Andres Metspalu, Peter K. Joshi, James F. Wilsonx, Judith Reina-Castillón, Jean Shin, Zdenka Pausova, Tomáš Paus, Jordi Sunyer, Luis A. Pérez-Jurado, Juan R. González
Published in: PLOS ONE, Issue 11/6, 2016, Page(s) e0157739, ISSN 1932-6203
DOI: 10.1371/journal.pone.0157739

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Author(s): Debra D’Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M. Maillard, W. Andrew Faucett, Aurélien Macé, Aurélie Pain, Raphael Bernier, Samuel J. R. A. Chawner, Albert David, Joris Andrieux, Elizabeth Aylward, Genevieve Baujat, Ines Caldeira, Philippe Conus, Carrina Ferrari, Francesca Forzano, Marion Gérard, Robin P. Goin-K
Published in: JAMA Psychiatry, Issue 73/1, 2016, Page(s) 20, ISSN 2168-622X
DOI: 10.1001/jamapsychiatry.2015.2123

Trends in adult body-mass index in 200 countries from 1975 to 2014: a pooled analysis of 1698 population-based measurement studies with 19·2 million participants

Author(s): NCD Risk Factor Collaboration (NCD-RisC)
Published in: The Lancet, Issue 387/10026, 2016, Page(s) 1377-1396, ISSN 0140-6736
DOI: 10.1016/S0140-6736(16)30054-X

Genome-wide association study of serum coenzyme Q 10 levels identifies susceptibility loci linked to neuronal diseases

Author(s): Frauke Degenhardt, Petra Niklowitz, Silke Szymczak, Gunnar Jacobs, Wolfgang Lieb, Thomas Menke, Matthias Laudes, Tõnu Esko, Stephan Weidinger, Andre Franke, Frank Döring, Simone Onur
Published in: Human Molecular Genetics, 2016, Page(s) ddw134, ISSN 0964-6906
DOI: 10.1093/hmg/ddw134

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Author(s): Georg B Ehret, Teresa Ferreira, Daniel I Chasman, Anne U Jackson, Ellen M Schmidt, Toby Johnson, Gudmar Thorleifsson, Jian'an Luan, Louise A Donnelly, Stavroula Kanoni, Ann-Kristin Petersen, Vasyl Pihur, Rona J Strawbridge, Dmitry Shungin, Maria F Hughes, Osorio Meirelles, Marika Kaakinen, Nabila Bouatia-Naji, Kati Kristiansson, Sonia Shah, Marcus E Kleber, Xiuqing Guo, Leo-Pekka Lyytikäinen, Cri
Published in: Nature Genetics, Issue 48/10, 2016, Page(s) 1171-1184, ISSN 1061-4036
DOI: 10.1038/ng.3667

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

Author(s): David Ellinghaus, Luke Jostins, Sarah L Spain, Adrian Cortes, Jörn Bethune, Buhm Han, Yu Rang Park, Soumya Raychaudhuri, Jennie G Pouget, Matthias Hübenthal, Trine Folseraas, Yunpeng Wang, Tonu Esko, Andres Metspalu, Harm-Jan Westra, Lude Franke, Tune H Pers, Rinse K Weersma, Valerie Collij, Mauro D'Amato, Jonas Halfvarson, Anders Boeck Jensen, Wolfgang Lieb, Franziska Degenhardt, Andreas J Fors
Published in: Nature Genetics, Issue 48/5, 2016, Page(s) 510-518, ISSN 1061-4036
DOI: 10.1038/ng.3528

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Author(s): Qiao Fan, Xiaobo Guo, J. Willem L. Tideman, Katie M. Williams, Seyhan Yazar, S. Mohsen Hosseini, Laura D. Howe, Beaté St Pourcain, David M. Evans, Nicholas J. Timpson, George McMahon, Pirro G. Hysi, Eva Krapohl, Ya Xing Wang, Jost B. Jonas, Paul Nigel Baird, Jie Jin Wang, Ching-Yu Cheng, Yik-Ying Teo, Tien-Yin Wong, Xiaohu Ding, Robert Wojciechowski, Terri L. Young, Olavi Pärssinen, Konrad Oexle
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep25853

Cardiovascular Risk Factors and Ischemic Heart DiseaseCLINICAL PERSPECTIVE


Published in: ISSN 1942-3268
DOI: 10.1161/CIRCGENETICS.115.001255

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Author(s): Padhraig Gormley, Verneri Anttila, Bendik S Winsvold, Priit Palta, Tonu Esko, Tune H Pers, Kai-How Farh, Ester Cuenca-Leon, Mikko Muona, Nicholas A Furlotte, Tobias Kurth, Andres Ingason, George McMahon, Lannie Ligthart, Gisela M Terwindt, Mikko Kallela, Tobias M Freilinger, Caroline Ran, Scott G Gordon, Anine H Stam, Stacy Steinberg, Guntram Borck, Markku Koiranen, Lydia Quaye, Hieab H H Adams, T
Published in: Nature Genetics, Issue 48/8, 2016, Page(s) 856-866, ISSN 1061-4036
DOI: 10.1038/ng.3598

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Author(s): Kyle J Gaulton, Teresa Ferreira, Yeji Lee, Anne Raimondo, Reedik Mägi, Michael E Reschen, Anubha Mahajan, Adam Locke, N William Rayner, Neil Robertson, Robert A Scott, Inga Prokopenko, Laura J Scott, Todd Green, Thomas Sparso, Dorothee Thuillier, Loic Yengo, Harald Grallert, Simone Wahl, Mattias Frånberg, Rona J Strawbridge, Hans Kestler, Himanshu Chheda, Lewin Eisele, Stefan Gustafsson, Valgerd
Published in: Nature Genetics, Issue 47/12, 2015, Page(s) 1415-1425, ISSN 1061-4036
DOI: 10.1038/ng.3437

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Author(s): Loyse Hippolyte, Anne M. Maillard, Borja Rodriguez-Herreros, Aurélie Pain, Sandra Martin-Brevet, Carina Ferrari, Philippe Conus, Aurélien Macé, Nouchine Hadjikhani, Andres Metspalu, Anu Reigo, Anneli Kolk, Katrin Männik, Mandy Barker, Bertrand Isidor, Cédric Le Caignec, Cyril Mignot, Laurence Schneider, Laurent Mottron, Boris Keren, Albert David, Martine Doco-Fenzy, Marion Gérard, Raphael Be
Published in: Biological Psychiatry, Issue 80/2, 2016, Page(s) 129-139, ISSN 0006-3223
DOI: 10.1016/j.biopsych.2015.10.021

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

Author(s): Barbara Franke, Jason L Stein, Stephan Ripke, Verneri Anttila, Derrek P Hibar, Kimm J E van Hulzen, Alejandro Arias-Vasquez, Jordan W Smoller, Thomas E Nichols, Michael C Neale, Andrew M McIntosh, Phil Lee, Francis J McMahon, Andreas Meyer-Lindenberg, Manuel Mattheisen, Ole A Andreassen, Oliver Gruber, Perminder S Sachdev, Roberto Roiz-Santiañez, Andrew J Saykin, Stefan Ehrlich, Karen A Mather, J
Published in: Nature Neuroscience, Issue 19/3, 2016, Page(s) 420-431, ISSN 1097-6256
DOI: 10.1038/nn.4228

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells

Author(s): Felix C. Giani, Claudia Fiorini, Aoi Wakabayashi, Leif S. Ludwig, Rany M. Salem, Chintan D. Jobaliya, Stephanie N. Regan, Jacob C. Ulirsch, Ge Liang, Orna Steinberg-Shemer, Michael H. Guo, Tõnu Esko, Wei Tong, Carlo Brugnara, Joel N. Hirschhorn, Mitchell J. Weiss, Leonard I. Zon, Stella T. Chou, Deborah L. French, Kiran Musunuru, Vijay G. Sankaran
Published in: Cell Stem Cell, Issue 18/1, 2016, Page(s) 73-78, ISSN 1934-5909
DOI: 10.1016/j.stem.2015.09.015

Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error

Author(s): Qiao Fan, Virginie J. M. Verhoeven, Robert Wojciechowski, Veluchamy A. Barathi, Pirro G. Hysi, Jeremy A. Guggenheim, René Höhn, Veronique Vitart, Anthony P. Khawaja, Kenji Yamashiro, S Mohsen Hosseini, Terho Lehtimäki, Yi Lu, Toomas Haller, Jing Xie, Cécile Delcourt, Mario Pirastu, Juho Wedenoja, Puya Gharahkhani, Cristina Venturini, Masahiro Miyake, Alex W. Hewitt, Xiaobo Guo, Johanna Mazur,
Published in: Nature Communications, Issue 7, 2016, Page(s) 11008, ISSN 2041-1723
DOI: 10.1038/ncomms11008

Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

Author(s): A Hinney, M Kesselmeier, S Jall, A-L Volckmar, M Föcker, J Antel, Vesna Boraska Perica, Christopher S Franklin, James A B Floyd, Laura M Thornton, Laura M Huckins, Lorraine Southam, N William Rayner, Ioanna Tachmazidou, Kelly L Klump, Janet Treasure, Cathryn M Lewis, Ulrike Schmidt, Federica Tozzi, Kirsty iezebrink, Johannes Hebebrand, Philip Gorwood, Roger A H Adan, Martien J H Kas, Angela Favar
Published in: Molecular Psychiatry, Issue 22/2, 2016, Page(s) 192-201, ISSN 1359-4184
DOI: 10.1038/mp.2016.71

The genetic architecture of type 2 diabetes

Author(s): Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton, Clement Ma, Pierre Fontanillas, Loukas Moutsianas, Davis J. McCarthy, Manuel A. Rivas, John R. B. Perry, Xueling Sim, Thomas W. Blackwell, Neil R. Robertson, N. William Rayner, Pablo Cingolani, Adam E. Locke, Juan Fernandez Tajes, Heather M. Highland, Josee Dupuis, Peter S. Chines, Cecilia
Published in: Nature, Issue 536/7614, 2016, Page(s) 41-47, ISSN 0028-0836
DOI: 10.1038/nature18642

A Whole-Blood Transcriptome Meta-Analysis Identifies Gene Expression Signatures of Cigarette Smoking

Author(s): Tianxiao Huan, Roby Joehanes, Claudia Schurmann, Katharina Schramm, Luke C. Pilling, Marjolein J. Peters, Reedik Mägi, Dawn DeMeo, George T O'Connor, Luigi Ferrucci, Alexander Teumer, Georg Homuth, Reiner Biffar, Uwe Völker, Christian Herder, Melanie Waldenberger, Annette Peters, Sonja Zeilinger, Andres Metspalu, Albert Hofman, André G. Uitterlinden, Dena G. Hernandez, Andrew B. Singleton, Stef
Published in: Human Molecular Genetics, Issue 25 (21): 4611-4623., 2016, Page(s) ddw288, ISSN 0964-6906
DOI: 10.1093/hmg/ddw288

Selective sweep on human amylase genes postdates the split with Neanderthals

Author(s): Charlotte E. Inchley, Cynthia D. A. Larbey, Nzar A. A. Shwan, Luca Pagani, Lauri Saag, Tiago Antão, Guy Jacobs, Georgi Hudjashov, Ene Metspalu, Mario Mitt, Christina A. Eichstaedt, Boris Malyarchuk, Miroslava Derenko, Joseph Wee, Syafiq Abdullah, François-Xavier Ricaut, Maru Mormina, Reedik Mägi, Richard Villems, Mait Metspalu, Martin K. Jones, John A. L. Armour, Toomas Kivisild
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep37198

Autosomal genetic control of human gene expression does not differ across the sexes

Author(s): Irfahan Kassam, Luke Lloyd-Jones, Alexander Holloway, Kerrin S. Small, Biao Zeng, Andrew Bakshi, Andres Metspalu, Greg Gibson, Tim D. Spector, Tonu Esko, Grant W. Montgomery, Joseph E. Powell, Jian Yang, Peter M. Visscher, Allan F. McRae
Published in: Genome Biology, Issue 17/1, 2016, ISSN 1474-760X
DOI: 10.1186/s13059-016-1111-0

Single base resolution analysis of 5-hydroxymethylcytosine in 188 human genes: implications for hepatic gene expression

Author(s): Maxim Ivanov, Mart Kals, Volker Lauschke, Isabel Barragan, Philip Ewels, Max Käller, Tomas Axelsson, Janne Lehtiö, Lili Milani, Magnus Ingelman-Sundberg
Published in: Nucleic Acids Research, Issue 44/14, 2016, Page(s) 6756-6769, ISSN 0305-1048
DOI: 10.1093/nar/gkw316

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

Author(s): Johannes Kettunen, Ayşe Demirkan, Peter Würtz, Harmen H.M. Draisma, Toomas Haller, Rajesh Rawal, Anika Vaarhorst, Antti J. Kangas, Leo-Pekka Lyytikäinen, Matti Pirinen, René Pool, Antti-Pekka Sarin, Pasi Soininen, Taru Tukiainen, Qin Wang, Mika Tiainen, Tuulia Tynkkynen, Najaf Amin, Tanja Zeller, Marian Beekman, Joris Deelen, Ko Willems van Dijk, Tõnu Esko, Jouke-Jan Hottenga, Elisabeth M van
Published in: Nature Communications, Issue 7, 2016, Page(s) 11122, ISSN 2041-1723
DOI: 10.1038/ncomms11122

Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan

Author(s): Peter K. Joshi, Krista Fischer, Katharina E. Schraut, Harry Campbell, Tõnu Esko, James F. Wilson
Published in: Nature Communications, Issue 7, 2016, Page(s) 11174, ISSN 2041-1723
DOI: 10.1038/ncomms11174

Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci

Author(s): Samuel E. Jones, Jessica Tyrrell, Andrew R. Wood, Robin N. Beaumont, Katherine S. Ruth, Marcus A. Tuke, Hanieh Yaghootkar, Youna Hu, Maris Teder-Laving, Caroline Hayward, Till Roenneberg, James F. Wilson, Fabiola Del Greco, Andrew A. Hicks, Chol Shin, Chang-Ho Yun, Seung Ku Lee, Andres Metspalu, Enda M. Byrne, Philip R. Gehrman, Henning Tiemeier, Karla V. Allebrandt, Rachel M. Freathy, Anna Murray
Published in: PLOS Genetics, Issue 12/8, 2016, Page(s) e1006125, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1006125

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

Author(s): Po-Ru Loh, Gaurav Bhatia, Alexander Gusev, Hilary K Finucane, Brendan K Bulik-Sullivan, Samuela J Pollack, Teresa R de Candia, Sang Hong Lee, Naomi R Wray, Kenneth S Kendler, Michael C O'Donovan, Benjamin M Neale, Nick Patterson, Alkes L Price
Published in: Nature Genetics, Issue 47/12, 2015, Page(s) 1385-1392, ISSN 1061-4036
DOI: 10.1038/ng.3431

No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis

Author(s): Christina Loley, Maris Alver, Themistocles L. Assimes, Andrew Bjonnes, Anuj Goel, Stefan Gustafsson, Jussi Hernesniemi, Jemma C. Hopewell, Stavroula Kanoni, Marcus E. Kleber, King Wai Lau, Yingchang Lu, Leo-Pekka Lyytikäinen, Christopher P. Nelson, Majid Nikpay, Liming Qu, Elias Salfati, Markus Scholz, Taru Tukiainen, Christina Willenborg, Hong-Hee Won, Lingyao Zeng, Weihua Zhang, Sonia S. Anand,
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep35278

Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond


Published in: ISSN 1043-2760
DOI: 10.1016/j.tem.2016.04.011

Testing the role of predicted gene knockouts in human anthropometric trait variation

Author(s): Samuel Lessard, Alisa K. Manning, Cécile Low-Kam, Paul L. Auer, Ayush Giri, Mariaelisa Graff, Claudia Schurmann, Hanieh Yaghootkar, Jian'an Luan, Tonu Esko, Tugce Karaderi, Erwin P. Bottinger, Yingchang Lu, Chris Carlson, Mark Caulfield, Marie-Pierre Dubé, Rebecca D. Jackson, Charles Kooperberg, Barbara McKnight, Ian Mongrain, Ulrike Peters, Alex P. Reiner, David Rhainds, Nona Sotoodehnia, Joel
Published in: Human Molecular Genetics, Issue 25/10, 2016, Page(s) 2082-2092, ISSN 0964-6906
DOI: 10.1093/hmg/ddw055

Epigenetic profiling in CD4+ and CD8+ T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling

Author(s): Maia Limbach, Mario Saare, Liina Tserel, Kai Kisand, Triin Eglit, Sascha Sauer, Tomas Axelsson, Ann-Christine Syvänen, Andres Metspalu, Lili Milani, Pärt Peterson
Published in: Journal of Autoimmunity, Issue 67, 2016, Page(s) 46-56, ISSN 0896-8411
DOI: 10.1016/j.jaut.2015.09.006

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

Author(s): Tuomas O. Kilpeläinen, Jayne F. Martin Carli, Alicja A. Skowronski, Qi Sun, Jennifer Kriebel, Mary F Feitosa, Åsa K. Hedman, Alexander W. Drong, James E. Hayes, Jinghua Zhao, Tune H. Pers, Ursula Schick, Niels Grarup, Zoltán Kutalik, Stella Trompet, Massimo Mangino, Kati Kristiansson, Marian Beekman, Leo-Pekka Lyytikäinen, Joel Eriksson, Peter Henneman, Jari Lahti, Toshiko Tanaka, Jian’an Lu
Published in: Nature Communications, Issue 7, 2016, Page(s) 10494, ISSN 2041-1723
DOI: 10.1038/ncomms10494

The Role of the Five-factor Personality Traits in General Self-rated Health


Published in: ISSN 0890-2070
DOI: 10.1002/per.2058

Ageing with elegans: a research proposal to map healthspan pathways

Author(s): Walter Luyten, Peter Antal, Bart P. Braeckman, Jake Bundy, Francesca Cirulli, Christopher Fang-Yen, Georg Fuellen, Armand Leroi, Qingfei Liu, Patricia Martorell, Andres Metspalu, Markus Perola, Michael Ristow, Nadine Saul, Liliane Schoofs, Karsten Siems, Liesbet Temmerman, Tina Smets, Alicja Wolk, Suresh I. S. Rattan
Published in: Biogerontology, Issue 17/4, 2016, Page(s) 771-782, ISSN 1389-5729
DOI: 10.1007/s10522-016-9644-x

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Author(s): Yingchang Lu, Felix R. Day, Stefan Gustafsson, Martin L. Buchkovich, Jianbo Na, Veronique Bataille, Diana L. Cousminer, Zari Dastani, Alexander W. Drong, Tõnu Esko, David M. Evans, Mario Falchi, Mary F. Feitosa, Teresa Ferreira, Åsa K. Hedman, Robin Haring, Pirro G. Hysi, Mark M. Iles, Anne E. Justice, Stavroula Kanoni, Vasiliki Lagou, Rui Li, Xin Li, Adam Locke, Chen Lu, Reedik Mägi, John R. B
Published in: Nature Communications, Issue 7, 2016, Page(s) 10495, ISSN 2041-1723
DOI: 10.1038/ncomms10495

Genome-Wide Meta-Analysis of Sciatica in Finnish Population

Author(s): Susanna Lemmelä, Svetlana Solovieva, Rahman Shiri, Christian Benner, Markku Heliövaara, Johannes Kettunen, Verneri Anttila, Samuli Ripatti, Markus Perola, Ilkka Seppälä, Markus Juonala, Mika Kähönen, Veikko Salomaa, Jorma Viikari, Olli T. Raitakari, Terho Lehtimäki, Aarno Palotie, Eira Viikari-Juntura, Kirsti Husgafvel-Pursiainen
Published in: PLOS ONE, Issue 11/10, 2016, Page(s) e0163877, ISSN 1932-6203
DOI: 10.1371/journal.pone.0163877

16p11.2 Locus modulates response to satiety before the onset of obesity

Author(s): A M Maillard, L Hippolyte, B Rodriguez-Herreros, S J R A Chawner, D Dremmel, Z Agüera, A B Fagundo, A Pain, S Martin-Brevet, A Hilbert, S Kurz, R Etienne, B Draganski, S Jimenez-Murcia, K Männik, A Metspalu, A Reigo, B Isidor, C Le Caignec, A David, C Mignot, B Keren, M B M van den Bree, S Munsch, F Fernandez-Aranda, J S Beckmann, A Reymond, S Jacquemont
Published in: International Journal of Obesity, Issue 40/5, 2015, Page(s) 870-876, ISSN 0307-0565
DOI: 10.1038/ijo.2015.247

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

Author(s): Divya Mehta, Felix C. Tropf, Jacob Gratten, Andrew Bakshi, Zhihong Zhu, Silviu-Alin Bacanu, Gibran Hemani, Patrik K. E. Magnusson, Nicola Barban, Tõnu Esko, Andres Metspalu, Harold Snieder, Bryan J. Mowry, Kenneth S. Kendler, Jian Yang, Peter M. Visscher, John J. McGrath, Melinda C. Mills, Naomi R. Wray, S. Hong Lee, Ole A. Andreassen, Elvira Bramon, Richard Bruggeman, Joseph D. Buxbaum, Murray J
Published in: JAMA Psychiatry, Issue 73/5, 2016, Page(s) 497, ISSN 2168-622X
DOI: 10.1001/jamapsychiatry.2016.0129

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

Author(s): Aysu Okbay, Bart M L Baselmans, Jan-Emmanuel De Neve, Patrick Turley, Michel G Nivard, Mark Alan Fontana, S Fleur W Meddens, Richard Karlsson Linnér, Cornelius A Rietveld, Jaime Derringer, Jacob Gratten, James J Lee, Jimmy Z Liu, Ronald de Vlaming, Tarunveer S Ahluwalia, Jadwiga Buchwald, Alana Cavadino, Alexis C Frazier-Wood, Nicholas A Furlotte, Victoria Garfield, Marie Henrike Geisel, Juan R G
Published in: Nature Genetics, Issue 48/6, 2016, Page(s) 624-633, ISSN 1061-4036
DOI: 10.1038/ng.3552

Genome-wide association study identifies 74 loci associated with educational attainment

Author(s): Aysu Okbay, Jonathan P. Beauchamp, Mark Alan Fontana, James J. Lee, Tune H. Pers, Cornelius A. Rietveld, Patrick Turley, Guo-Bo Chen, Valur Emilsson, S. Fleur W. Meddens, Sven Oskarsson, Joseph K. Pickrell, Kevin Thom, Pascal Timshel, Ronald de Vlaming, Abdel Abdellaoui, Tarunveer S. Ahluwalia, Jonas Bacelis, Clemens Baumbach, Gyda Bjornsdottir, Johannes H. Brandsma, Maria Pina Concas, Jaime Derri
Published in: Nature, Issue 533/7604, 2016, Page(s) 539-542, ISSN 0028-0836
DOI: 10.1038/nature17671

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Author(s): Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenberg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA,
Published in: New England Journal of Medicine, Issue 374/12, 2016, Page(s) 1134-1144, ISSN 0028-4793
DOI: 10.1056/NEJMoa1507652

Genetic variants linked to education predict longevity

Author(s): Riccardo E. Marioni, Stuart J. Ritchie, Peter K. Joshi, Saskia P. Hagenaars, Aysu Okbay, Krista Fischer, Mark J. Adams, W. David Hill, Gail Davies, Reka Nagy, Carmen Amador, Kristi Läll, Andres Metspalu, David C. Liewald, Archie Campbell, James F. Wilson, Caroline Hayward, Tõnu Esko, David J. Porteous, Catharine R. Gale, Ian J. Deary
Published in: Proceedings of the National Academy of Sciences, Issue 113/47, 2016, Page(s) 13366-13371, ISSN 0027-8424
DOI: 10.1073/pnas.1605334113

Genomic analyses inform on migration events during the peopling of Eurasia

Author(s): Luca Pagani, Daniel John Lawson, Evelyn Jagoda, Alexander Mörseburg, Anders Eriksson, Mario Mitt, Florian Clemente, Georgi Hudjashov, Michael DeGiorgio, Lauri Saag, Jeffrey D. Wall, Alexia Cardona, Reedik Mägi, Melissa A. Wilson Sayres, Sarah Kaewert, Charlotte Inchley, Christiana L. Scheib, Mari Järve, Monika Karmin, Guy S. Jacobs, Tiago Antao, Florin Mircea Iliescu, Alena Kushniarevich, Qasim
Published in: Nature, Issue 538/7624, 2016, Page(s) 238-242, ISSN 0028-0836
DOI: 10.1038/nature19792

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Author(s): Sander Pajusalu, Inga Talvik, Klari Noormets, Tiina Talvik, Haide Põder, Kairit Joost, Sanna Puusepp, Andres Piirsoo, Werner Stenzel, Hans H. Goebel, Tiit Nikopensius, Tarmo Annilo, Margit Nõukas, Andres Metspalu, Katrin Õunap, Tiia Reimand
Published in: Neuromuscular Disorders, Issue 26/3, 2016, Page(s) 236-239, ISSN 0960-8966
DOI: 10.1016/j.nmd.2015.11.011

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author(s): Janina S. Ried, Janina Jeff M., Audrey Y. Chu, Jennifer L. Bragg-Gresham, Jenny van Dongen, Jennifer E. Huffman, Tarunveer S. Ahluwalia, Gemma Cadby, Niina Eklund, Joel Eriksson, Tõnu Esko, Mary F. Feitosa, Anuj Goel, Mathias Gorski, Caroline Hayward, Nancy L. Heard-Costa, Anne U. Jackson, Eero Jokinen, Stavroula Kanoni, Kati Kristiansson, Zoltán Kutalik, Jari Lahti, Jian'an Luan, Reedik Mägi,
Published in: Nature Communications, Issue 7, 2016, Page(s) 13357, ISSN 2041-1723
DOI: 10.1038/ncomms13357

Metabolites of milk intake: a metabolomic approach in UK twins with findings replicated in two European cohorts

Author(s): Tess Pallister, Toomas Haller, Barbara Thorand, Elisabeth Altmaier, Aedin Cassidy, Tiphaine Martin, Amy Jennings, Robert P. Mohney, Christian Gieger, Alexander MacGregor, Gabi Kastenmüller, Andres Metspalu, Tim D. Spector, Cristina Menni
Published in: European Journal of Nutrition, 2016, Page(s) 1-13, ISSN 1436-6207
DOI: 10.1007/s00394-016-1278-x

Whole-genome expression analysis reveals genes associated with treatment response to escitalopram in major depression

Author(s): Kristi Pettai, Lili Milani, Anu Tammiste, Urmo Võsa, Raivo Kolde, Triin Eller, David Nutt, Andres Metspalu, Eduard Maron
Published in: European Neuropsychopharmacology, Issue 26/9, 2016, Page(s) 1475-1483, ISSN 0924-977X
DOI: 10.1016/j.euroneuro.2016.06.007

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Author(s): Cristian Pattaro, Alexander Teumer, Mathias Gorski, Audrey Y. Chu, Man Li, Vladan Mijatovic, Maija Garnaas, Adrienne Tin, Rossella Sorice, Yong Li, Daniel Taliun, Matthias Olden, Meredith Foster, Qiong Yang, Ming-Huei Chen, Tune H. Pers, Andrew D. Johnson, Yi-An Ko, Christian Fuchsberger, Bamidele Tayo, Michael Nalls, Mary F. Feitosa, Aaron Isaacs, Abbas Dehghan, Pio d’Adamo, Adebowale Adeyemo,
Published in: Nature Communications, Issue 7, 2016, Page(s) 10023, ISSN 2041-1723
DOI: 10.1038/ncomms10023

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Author(s): Linda M. Polfus, Rajiv K. Khajuria, Ursula M. Schick, Nathan Pankratz, Raha Pazoki, Jennifer A. Brody, Ming-Huei Chen, Paul L. Auer, James S. Floyd, Jie Huang, Leslie Lange, Frank J.A. van Rooij, Richard A. Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Klaudia Walter, Lu Chen, Lisa Yanek, Lewis C. Becker, Gina M. Peloso, Aoi Wakabayashi, Mart Kals, Andres Metspalu, Tõnu
Published in: The American Journal of Human Genetics, Issue 99/2, 2016, Page(s) 481-488, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2016.06.016

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

Author(s): Philip E. Stuart, Rajan P. Nair, Lam C. Tsoi, Trilokraj Tejasvi, Sayantan Das, Hyun Min Kang, Eva Ellinghaus, Vinod Chandran, Kristina Callis-Duffin, Robert Ike, Yanming Li, Xiaoquan Wen, Charlotta Enerbäck, Johann E. Gudjonsson, Sulev Kõks, Külli Kingo, Tõnu Esko, Ulrich Mrowietz, Andre Reis, H. Erich Wichmann, Christian Gieger, Per Hoffmann, Markus M. Nöthen, Juliane Winkelmann, Manf
Published in: The American Journal of Human Genetics, Issue 97/6, 2015, Page(s) 816-836, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2015.10.019

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

Author(s): Stéphanie M. van den Berg, Marleen H. M. de Moor, Karin J. H. Verweij, Robert F. Krueger, Michelle Luciano, Alejandro Arias Vasquez, Lindsay K. Matteson, Jaime Derringer, Tõnu Esko, Najaf Amin, Scott D. Gordon, Narelle K. Hansell, Amy B. Hart, Ilkka Seppälä, Jennifer E. Huffman, Bettina Konte, Jari Lahti, Minyoung Lee, Mike Miller, Teresa Nutile, Toshiko Tanaka, Alexander Teumer, Alexander Vik
Published in: Behavior Genetics, Issue 46/2, 2016, Page(s) 170-182, ISSN 0001-8244
DOI: 10.1007/s10519-015-9735-5

Schizophrenia risk from complex variation of complement component 4

Author(s): Aswin Sekar, Allison R. Bialas, Heather de Rivera, Avery Davis, Timothy R. Hammond, Nolan Kamitaki, Katherine Tooley, Jessy Presumey, Matthew Baum, Vanessa Van Doren, Giulio Genovese, Samuel A. Rose, Robert E. Handsaker, Mark J. Daly, Michael C. Carroll, Beth Stevens, Steven A. McCarroll
Published in: Nature, Issue 530/7589, 2016, Page(s) 177-183, ISSN 0028-0836
DOI: 10.1038/nature16549

Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota

Author(s): Jun Wang, Louise B Thingholm, Jurgita Skiecevičienė, Philipp Rausch, Martin Kummen, Johannes R Hov, Frauke Degenhardt, Femke-Anouska Heinsen, Malte C Rühlemann, Silke Szymczak, Kristian Holm, Tönu Esko, Jun Sun, Mihaela Pricop-Jeckstadt, Samer Al-Dury, Pavol Bohov, Jörn Bethune, Felix Sommer, David Ellinghaus, Rolf K Berge, Matthias Hübenthal, Manja Koch, Karin Schwarz, Gerald Rimbach, Patri
Published in: Nature Genetics, Issue 48/11, 2016, Page(s) 1396-1406, ISSN 1061-4036
DOI: 10.1038/ng.3695

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci

Author(s): Geoffrey A. Walford, Stefan Gustafsson, Denis Rybin, Alena Stančáková, Han Chen, Ching-Ti Liu, Jaeyoung Hong, Richard A. Jensen, Ken Rice, Andrew P. Morris, Reedik Mägi, Anke Tönjes, Inga Prokopenko, Marcus E. Kleber, Graciela Delgado, Günther Silbernagel, Anne U. Jackson, Emil V. Appel, Niels Grarup, Joshua P. Lewis, May E. Montasser, Claes Landenvall, Harald Staiger, Jian’an Luan, Timoth
Published in: Diabetes, Issue 65/10, 2016, Page(s) 3200-3211, ISSN 0012-1797
DOI: 10.2337/db16-0199

Characterization of the metabolic profile associated with serum 25-hydroxyvitamin D: a cross-sectional analysis in population-based data

Author(s): Susanne Vogt, Simone Wahl, Johannes Kettunen, Susanne Breitner, Gabi Kastenmüller, Christian Gieger, Karsten Suhre, Melanie Waldenberger, Jürgen Kratzsch, Markus Perola, Veikko Salomaa, Stefan Blankenberg, Tanja Zeller, Pasi Soininen, Antti J Kangas, Annette Peters, Harald Grallert, Mika Ala-Korpela, Barbara Thorand
Published in: International Journal of Epidemiology, Issue 45/5, 2016, Page(s) 1469-1481, ISSN 0300-5771
DOI: 10.1093/ije/dyw222

Identifying Cases of Type 2 Diabetes in Heterogeneous Data Sources: Strategy from the EMIF Project

Author(s): Giuseppe Roberto, Ingrid Leal, Naveed Sattar, A. Katrina Loomis, Paul Avillach, Peter Egger, Rients van Wijngaarden, David Ansell, Sulev Reisberg, Mari-Liis Tammesoo, Helene Alavere, Alessandro Pasqua, Lars Pedersen, James Cunningham, Lara Tramontan, Miguel A. Mayer, Ron Herings, Preciosa Coloma, Francesco Lapi, Miriam Sturkenboom, Johan van der Lei, Martijn J. Schuemie, Peter Rijnbeek, Rosa Gini
Published in: PLOS ONE, Issue 11/8, 2016, Page(s) e0160648, ISSN 1932-6203
DOI: 10.1371/journal.pone.0160648

Sequence variation in nuclear ribosomal small subunit, internal transcribed spacer and large subunit regions of Rhizophagus irregularis and Gigaspora margarita is high and isolate-dependent

Author(s): Odile Thiéry, Martti Vasar, Teele Jairus, John Davison, Christophe Roux, Paula-Ann Kivistik, Andres Metspalu, Lili Milani, Ülle Saks, Mari Moora, Martin Zobel, Maarja Öpik
Published in: Molecular Ecology, Issue 25/12, 2016, Page(s) 2816-2832, ISSN 0962-1083
DOI: 10.1111/mec.13655

52 Genetic Loci Influencing Myocardial Mass

Author(s): Pim van der Harst, Jessica van Setten, Niek Verweij, Georg Vogler, Lude Franke, Matthew T. Maurano, Xinchen Wang, Irene Mateo Leach, Mark Eijgelsheim, Nona Sotoodehnia, Caroline Hayward, Rossella Sorice, Osorio Meirelles, Leo-Pekka Lyytikäinen, Ozren Polašek, Toshiko Tanaka, Dan E. Arking, Sheila Ulivi, Stella Trompet, Martina Müller-Nurasyid, Albert V. Smith, Marcus Dörr, Kathleen F. Kerr, Ja
Published in: Journal of the American College of Cardiology, Issue 68/13, 2016, Page(s) 1435-1448, ISSN 0735-1097
DOI: 10.1016/j.jacc.2016.07.729

Genome-wide genetic homogeneity between sexes and populations for human height and body mass index

Author(s): Jian Yang, Andrew Bakshi, Zhihong Zhu, Gibran Hemani, Anna A.E. Vinkhuyzen, Ilja M. Nolte, Jana V. van Vliet-Ostaptchouk, Harold Snieder, Tonu Esko, Lili Milani, Reedik Mägi, Andres Metspalu, Anders Hamsten, Patrik K.E. Magnusson, Nancy L. Pedersen, Erik Ingelsson, Peter M. Visscher
Published in: Human Molecular Genetics, Issue 24/25, 2015, Page(s) 7445-7449, ISSN 0964-6906
DOI: 10.1093/hmg/ddv443

Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2

Author(s): Jennifer J. Ware, Xiangning Chen, Jacqueline Vink, Anu Loukola, Camelia Minica, Rene Pool, Yuri Milaneschi, Massimo Mangino, Cristina Menni, Jingchun Chen, Roseann E. Peterson, Kirsi Auro, Leo-Pekka Lyytikäinen, Juho Wedenoja, Alexander I. Stiby, Gibran Hemani, Gonneke Willemsen, Jouke Jan Hottenga, Tellervo Korhonen, Markku Heliövaara, Markus Perola, Richard J. Rose, Lavinia Paternoster, Nic Ti
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep20092

Gut Microbial Metabolite TMAO Enhances Platelet Hyperreactivity and Thrombosis Risk

Author(s): Weifei Zhu, Jill C. Gregory, Elin Org, Jennifer A. Buffa, Nilaksh Gupta, Zeneng Wang, Lin Li, Xiaoming Fu, Yuping Wu, Margarete Mehrabian, R. Balfour Sartor, Thomas M. McIntyre, Roy L. Silverstein, W.H. Wilson Tang, Joseph A. DiDonato, J. Mark Brown, Aldons J. Lusis, Stanley L. Hazen
Published in: Cell, Issue 165/1, 2016, Page(s) 111-124, ISSN 0092-8674
DOI: 10.1016/j.cell.2016.02.011

KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference

Author(s): Gunter Schumann, Chunyu Liu, Paul O’Reilly, He Gao, Parkyong Song, Bing Xu, Barbara Ruggeri, Najaf Amin, Tianye Jia, Sarah Preis, Marcelo Segura Lepe, Shizuo Akira, Caterina Barbieri, Sebastian Baumeister, Stephane Cauchi, Toni-Kim Clarke, Stefan Enroth, Krista Fischer, Jenni Hällfors, Sarah E. Harris, Saskia Hieber, Edith Hofer, Jouke-Jan Hottenga, Åsa Johansson, Peter K. Joshi, Niina Kaartin
Published in: Proceedings of the National Academy of Sciences, Issue 113/50, 2016, Page(s) 14372-14377, ISSN 0027-8424
DOI: 10.1073/pnas.1611243113

Effect of characteristics of women on attendance in blind and non-blind randomised trials: analysis of recruitment data from the EPHT Trial

Author(s): Piret Veerus, Krista Fischer, Elina Hemminki, Sirpa-Liisa Hovi, Matti Hakama
Published in: BMJ Open, Issue 6/10, 2016, Page(s) e011099, ISSN 2044-6055
DOI: 10.1136/bmjopen-2016-011099

ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia


Published in: ISSN 2053-8871
DOI: 10.1186/s40673-016-0040-8

Metabolomic Profiling of Statin Use and Genetic Inhibition of HMG-CoA Reductase

Author(s): Peter Würtz, Qin Wang, Pasi Soininen, Antti J. Kangas, Ghazaleh Fatemifar, Tuulia Tynkkynen, Mika Tiainen, Markus Perola, Therese Tillin, Alun D. Hughes, Pekka Mäntyselkä, Mika Kähönen, Terho Lehtimäki, Naveed Sattar, Aroon D. Hingorani, Juan-Pablo Casas, Veikko Salomaa, Mika Kivimäki, Marjo-Riitta Järvelin, George Davey Smith, Mauno Vanhala, Debbie A. Lawlor, Olli T. Raitakari, Nish Chatu
Published in: Journal of the American College of Cardiology, Issue 67/10, 2016, Page(s) 1200-1210, ISSN 0735-1097
DOI: 10.1016/j.jacc.2015.12.060

C14orf132 gene is possibly related to extremely low birth weight

Author(s): Airi Tiirats, Triin Viltrop, Margit Nõukas, Ene Reimann, Andres Salumets, Sulev Kõks
Published in: BMC Genetics, Issue 17/1, 2016, ISSN 1471-2156
DOI: 10.1186/s12863-016-0439-5

Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits

Author(s): Alexander Teumer, Qibin Qi, Maria Nethander, Hugues Aschard, Stefania Bandinelli, Marian Beekman, Sonja I. Berndt, Martin Bidlingmaier, Linda Broer, Anne Cappola, Gian Paolo Ceda, Stephen Chanock, Ming-Huei Chen, Tai C. Chen, Yii-Der Ida Chen, Jonathan Chung, Fabiola Del Greco Miglianico, Joel Eriksson, Luigi Ferrucci, Nele Friedrich, Carsten Gnewuch, Mark O. Goodarzi, Niels Grarup, Tingwei Guo, E
Published in: Aging Cell, Issue 15/5, 2016, Page(s) 811-824, ISSN 1474-9718
DOI: 10.1111/acel.12490

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Author(s): P. Zanoni, S. A. Khetarpal, D. B. Larach, W. F. Hancock-Cerutti, J. S. Millar, M. Cuchel, S. DerOhannessian, A. Kontush, P. Surendran, D. Saleheen, S. Trompet, J. W. Jukema, A. De Craen, P. Deloukas, N. Sattar, I. Ford, C. Packard, A. a. S. Majumder, D. S. Alam, E. Di Angelantonio, G. Abecasis, R. Chowdhury, J. Erdmann, B. G. Nordestgaard, S. F. Nielsen, A. Tybjaerg-Hansen, R. F. Schmidt, K. Kuula
Published in: Science, Issue 351/6278, 2016, Page(s) 1166-1171, ISSN 0036-8075
DOI: 10.1126/science.aad3517

The Effects of Intensive Weight Reduction on Body Composition and Serum Hormones in Female Fitness Competitors

Author(s): Juha J. Hulmi, Ville Isola, Marianna Suonpää, Neea J. Järvinen, Marja Kokkonen, Annika Wennerström, Kai Nyman, Markus Perola, Juha P. Ahtiainen, Keijo Häkkinen
Published in: Frontiers in Physiology, Issue 7, 2017, Page(s) 1-16, ISSN 1664-042X
DOI: 10.3389/fphys.2016.00689

DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes

Author(s): Mithu Guha, Mario Saare, Julia Maslovskaja, Kai Kisand, Ingrid Liiv, Uku Haljasorg, Tõnis Tasa, Andres Metspalu, Lili Milani, Pärt Peterson
Published in: Journal of Biological Chemistry, Issue 292/16, 2017, Page(s) 6542-6554, ISSN 0021-9258
DOI: 10.1074/jbc.M116.764704

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Author(s): Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto, Madhusudan Gujral, William M Brandler, Dheeraj Malhotra, Zhouzhi Wang, Karin V Fuentes Fajarado, Michelle S Maile, Stephan Ripke, Ingrid Agartz, Margot Albus, Madeline Alexander, Farooq Amin, Joshua Atkins, Silviu A Bacanu, Ric
Published in: Nature Genetics, Issue 49/1, 2016, Page(s) 27-35, ISSN 1061-4036
DOI: 10.1038/ng.3725

The Genetic Architecture of Gene Expression in Peripheral Blood

Author(s): Luke R. Lloyd-Jones, Alexander Holloway, Allan McRae, Jian Yang, Kerrin Small, Jing Zhao, Biao Zeng, Andrew Bakshi, Andres Metspalu, Manolis Dermitzakis, Greg Gibson, Tim Spector, Grant Montgomery, Tonu Esko, Peter M. Visscher, Joseph E. Powell
Published in: The American Journal of Human Genetics, Issue 100/2, 2017, Page(s) 371, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2017.01.026

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

Author(s): Himanshu Chheda, Priit Palta, Matti Pirinen, Shane McCarthy, Klaudia Walter, Seppo Koskinen, Veikko Salomaa, Mark Daly, Richard Durbin, Aarno Palotie, Tero Aittokallio, Samuli Ripatti
Published in: European Journal of Human Genetics, Issue 25/4, 2017, Page(s) 477-484, ISSN 1018-4813
DOI: 10.1038/ejhg.2016.205

MARV: a tool for genome-wide multi-phenotype analysis of rare variants

Author(s): Marika Kaakinen, Reedik Mägi, Krista Fischer, Jani Heikkinen, Marjo-Riitta Järvelin, Andrew P. Morris, Inga Prokopenko
Published in: BMC Bioinformatics, Issue 18/1, 2017, Page(s) 1-8, ISSN 1471-2105
DOI: 10.1186/s12859-017-1530-2

Metabolomic profiles as reliable biomarkers of dietary composition

Author(s): Tõnu Esko, Joel N Hirschhorn, Henry A Feldman, Yu-Han H Hsu, Amy A Deik, Clary B Clish, Cara B Ebbeling, David S Ludwig
Published in: The American Journal of Clinical Nutrition, Issue 105/3, 2017, Page(s) 547-554, ISSN 0002-9165
DOI: 10.3945/ajcn.116.144428

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

Author(s): Mario Mitt, Mart Kals, Kalle Pärn, Stacey B Gabriel, Eric S Lander, Aarno Palotie, Samuli Ripatti, Andrew P Morris, Andres Metspalu, Tõnu Esko, Reedik Mägi, Priit Palta
Published in: European Journal of Human Genetics, 2017, Page(s) 1-8, ISSN 1018-4813
DOI: 10.1038/ejhg.2017.51

A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

Author(s): Alisa Manning, Heather M Highland, Jessica Gasser, Xueling Sim, Taru Tukiainen, Pierre Fontanillas, Niels Grarup, Manuel A Rivas, Anubha Mahajan, Adam E Locke, Pablo Cingolani, Tune H Pers, Ana Viñuela, Andrew A Brown, Ying Wu, Jason Flannick, Christian Fuchsberger, Eric R Gamazon, Kyle J Gaulton, Hae Kyung Im, Tanya M Teslovich, Thomas W Blackwell, Jette Bork-Jensen, Noël P Burtt, Yuhui Chen, T
Published in: Diabetes, 2017, Page(s) db161329, ISSN 0012-1797
DOI: 10.2337/db16-1329

Worldwide trends in blood pressure from 1975 to 2015: a pooled analysis of 1479 population-based measurement studies with 19·1 million participants

Author(s): Bin Zhou, James Bentham, Mariachiara Di Cesare, Honor Bixby, Goodarz Danaei, Melanie J Cowan, Christopher J Paciorek, Gitanjali Singh, Kaveh Hajifathalian, James E Bennett, Cristina Taddei, Ver Bilano, Rodrigo M Carrillo-Larco, Shirin Djalalinia, Shahab Khatibzadeh, Charles Lugero, Niloofar Peykari, Wan Zhu Zhang, Yuan Lu, Gretchen A Stevens, Leanne M Riley, Pascal Bovet, Paul Elliott, Dongfeng Gu
Published in: The Lancet, Issue 389/10064, 2017, Page(s) 37-55, ISSN 0140-6736
DOI: 10.1016/S0140-6736(16)31919-5

Human basonuclin 2 up-regulates a cascade set of interferon-stimulated genes with anti-cancerous properties in a lung cancer model

Author(s): Egon Urgard, Anu Reigo, Eva Reinmaa, Ana Rebane, Andres Metspalu
Published in: Cancer Cell International, Issue 17/1, 2017, Page(s) 1-10, ISSN 1475-2867
DOI: 10.1186/s12935-017-0394-x

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

Author(s): Simone Wahl, Alexander Drong, Benjamin Lehne, Marie Loh, William R. Scott, Sonja Kunze, Pei-Chien Tsai, Janina S. Ried, Weihua Zhang, Youwen Yang, Sili Tan, Giovanni Fiorito, Lude Franke, Simonetta Guarrera, Silva Kasela, Jennifer Kriebel, Rebecca C. Richmond, Marco Adamo, Uzma Afzal, Mika Ala-Korpela, Benedetta Albetti, Ole Ammerpohl, Jane F. Apperley, Marian Beekman, Pier Alberto Bertazzi, S. Lu
Published in: Nature, Issue 541/7635, 2016, Page(s) 81-86, ISSN 0028-0836
DOI: 10.1038/nature20784

Rare and low-frequency coding variants alter human adult height

Author(s): Eirini Marouli, Mariaelisa Graff, Carolina Medina-Gomez, Ken Sin Lo, Andrew R. Wood, Troels R. Kjaer, Rebecca S. Fine, Yingchang Lu, Claudia Schurmann, Heather M. Highland, Sina Rüeger, Gudmar Thorleifsson, Anne E. Justice, David Lamparter, Kathleen E. Stirrups, Valérie Turcot, Kristin L. Young, Thomas W. Winkler, Tõnu Esko, Tugce Karaderi, Adam E. Locke, Nicholas G. D. Masca, Maggie C. Y. Ng,
Published in: Nature, Issue 542/7640, 2017, Page(s) 186-190, ISSN 0028-0836
DOI: 10.1038/nature21039

SCOPA and META-SCOPA: software for the analysis and aggregation of genome-wide association studies of multiple correlated phenotypes

Author(s): Reedik Mägi, Yury V. Suleimanov, Geraldine M. Clarke, Marika Kaakinen, Krista Fischer, Inga Prokopenko, Andrew P. Morris
Published in: BMC Bioinformatics, Issue 18/1, 2017, Page(s) 1-8, ISSN 1471-2105
DOI: 10.1186/s12859-016-1437-3

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

Author(s): Helen R Warren, Evangelos Evangelou, Claudia P Cabrera, He Gao, Meixia Ren, Borbala Mifsud, Ioanna Ntalla, Praveen Surendran, Chunyu Liu, James P Cook, Aldi T Kraja, Fotios Drenos, Marie Loh, Niek Verweij, Jonathan Marten, Ibrahim Karaman, Marcelo P Segura Lepe, Paul F O'Reilly, Joanne Knight, Harold Snieder, Norihiro Kato, Jiang He, E Shyong Tai, M Abdullah Said, David Porteous, Maris Alver, Neil
Published in: Nature Genetics, Issue 49/3, 2017, Page(s) 403-415, ISSN 1061-4036
DOI: 10.1038/ng.3768

Epigenetic DNA methylation changes associated with headache chronification: A retrospective case-control study

Author(s): Bendik S Winsvold, Priit Palta, Else Eising, Christian M Page, Arn MJM van den Maagdenberg, Aarno Palotie, John-Anker Zwart
Published in: Cephalalgia, 2016, Page(s) 033310241769011, ISSN 0333-1024
DOI: 10.1177/0333102417690111

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

Author(s): Thomas R. Webb, Jeanette Erdmann, Kathleen E. Stirrups, Nathan O. Stitziel, Nicholas G.D. Masca, Henning Jansen, Stavroula Kanoni, Christopher P. Nelson, Paola G. Ferrario, Inke R. König, John D. Eicher, Andrew D. Johnson, Stephen E. Hamby, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric E. Schadt, Johan L.M. Björkegren, Peter E. Weeke, Paul L. Auer, Ursula M. Schick, Yingchang Lu, He Z
Published in: Journal of the American College of Cardiology, Issue 69/7, 2017, Page(s) 823-836, ISSN 0735-1097
DOI: 10.1016/j.jacc.2016.11.056

Replicability and Robustness of Genome-Wide-Association Studies for Behavioral Traits

Author(s): C. A. Rietveld, D. Conley, N. Eriksson, T. Esko, S. E. Medland, A. A. E. Vinkhuyzen, J. Yang, J. D. Boardman, C. F. Chabris, C. T. Dawes, B. W. Domingue, D. A. Hinds, M. Johannesson, A. K. Kiefer, D. Laibson, P. K. E. Magnusson, J. L. Mountain, S. Oskarsson, O. Rostapshova, A. Teumer, J. Y. Tung, P. M. Visscher, D. J. Benjamin, D. Cesarini, P. D. Koellinger, N. Eriksson, D. A. Hinds, A. K. Kiefer,
Published in: Psychological Science, Issue 25/11, 2014, Page(s) 1975-1986, ISSN 0956-7976
DOI: 10.1177/0956797614545132

An epidemiological perspective of personalized medicine: the Estonian experience

Author(s): L. Milani, L. Leitsalu, A. Metspalu
Published in: Journal of Internal Medicine, Issue 277/2, 2015, Page(s) 188-200, ISSN 0954-6820
DOI: 10.1111/joim.12320

Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression

Author(s): A. Tammiste, T. Jiang, K. Fischer, R. Magi, K. Krjutskov, K. Pettai, T. Esko, Y. Li, K. E. Tansey, L. S. Carroll, R. Uher, P. McGuffin, U. Vosa, N. Tsernikova, A. Saria, P. C. Ng, T. Eller, V. Vasar, D. J. Nutt, E. Maron, J. Wang, A. Metspalu
Published in: Journal of Psychopharmacology, Issue 27/10, 2013, Page(s) 915-920, ISSN 0269-8811
DOI: 10.1177/0269881113499829

Genetic studies of body mass index yield new insights for obesity biology

Author(s): Adam E. Locke, Bratati Kahali, Sonja I. Berndt, Anne E. Justice, Tune H. Pers, Felix R. Day, Corey Powell, Sailaja Vedantam, Martin L. Buchkovich, Jian Yang, Damien C. Croteau-Chonka, Tonu Esko, Tove Fall, Teresa Ferreira, Stefan Gustafsson, Zoltán Kutalik, Jian’an Luan, Reedik Mägi, Joshua C. Randall, Thomas W. Winkler, Andrew R. Wood, Tsegaselassie Workalemahu, Jessica D. Faul, Jennifer A. S
Published in: Nature, Issue 518/7538, 2015, Page(s) 197-206, ISSN 0028-0836
DOI: 10.1038/nature14177

Rare coding variants and X-linked loci associated with age at menarche

Author(s): Kathryn L. Lunetta, Felix R. Day, Patrick Sulem, Katherine S. Ruth, Joyce Y. Tung, David A. Hinds, Tõnu Esko, Cathy E. Elks, Elisabeth Altmaier, Chunyan He, Jennifer E. Huffman, Evelin Mihailov, Eleonora Porcu, Antonietta Robino, Lynda M. Rose, Ursula M. Schick, Lisette Stolk, Alexander Teumer, Deborah J. Thompson, Michela Traglia, Carol A. Wang, Laura M. Yerges-Armstrong, Antonis C. Antoniou, Ca
Published in: Nature Communications, Issue 6, 2015, Page(s) 7756, ISSN 2041-1723
DOI: 10.1038/ncomms8756

In-solution hybrid capture of bisulfite-converted DNA for targeted bisulfite sequencing of 174 ADME genes

Author(s): M. Ivanov, M. Kals, M. Kacevska, A. Metspalu, M. Ingelman-Sundberg, L. Milani
Published in: Nucleic Acids Research, Issue 41/6, 2013, Page(s) e72-e72, ISSN 0305-1048
DOI: 10.1093/nar/gks1467

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

Author(s): J. R. B. Perry, Y.-H. Hsu, D. I. Chasman, A. D. Johnson, C. Elks, E. Albrecht, I. L. Andrulis, J. Beesley, G. S. Berenson, S. Bergmann, S. E. Bojesen, M. K. Bolla, J. Brown, J. E. Buring, H. Campbell, J. Chang-Claude, G. Chenevix-Trench, T. Corre, F. J. Couch, A. Cox, K. Czene, A. P. D'adamo, G. Davies, I. J. Deary, J. Dennis, D. F. Easton, E. G. Engelhardt, J. G. Eriksson, T. Esko, P. A. Fasching
Published in: Human Molecular Genetics, Issue 23/9, 2014, Page(s) 2490-2497, ISSN 0964-6906
DOI: 10.1093/hmg/ddt620

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

Author(s): Majid Nikpay, Anuj Goel, Hong-Hee Won, Leanne M Hall, Christina Willenborg, Stavroula Kanoni, Danish Saleheen, Theodosios Kyriakou, Christopher P Nelson, Jemma C Hopewell, Thomas R Webb, Lingyao Zeng, Abbas Dehghan, Maris Alver, Sebastian M Armasu, Kirsi Auro, Andrew Bjonnes, Daniel I Chasman, Shufeng Chen, Ian Ford, Nora Franceschini, Christian Gieger, Christopher Grace, Stefan Gustafsson, Jie Hu
Published in: Nature Genetics, Issue 47/10, 2015, Page(s) 1121-1130, ISSN 1061-4036
DOI: 10.1038/ng.3396

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author(s): John R. B. Perry, Felix Day, Cathy E. Elks, Patrick Sulem, Deborah J. Thompson, Teresa Ferreira, Chunyan He, Daniel I. Chasman, Tõnu Esko, Gudmar Thorleifsson, Eva Albrecht, Wei Q. Ang, Tanguy Corre, Diana L. Cousminer, Bjarke Feenstra, Nora Franceschini, Andrea Ganna, Andrew D. Johnson, Sanela Kjellqvist, Kathryn L. Lunetta, George McMahon, Ilja M. Nolte, Lavinia Paternoster, Eleonora Porcu, Alb
Published in: Nature, Issue 514/7520, 2014, Page(s) 92-97, ISSN 0028-0836
DOI: 10.1038/nature13545

A Meta-analysis of Gene Expression Signatures of Blood Pressure and Hypertension

Author(s): Tianxiao Huan, Tõnu Esko, Marjolein J. Peters, Luke C. Pilling, Katharina Schramm, Claudia Schurmann, Brian H. Chen, Chunyu Liu, Roby Joehanes, Andrew D. Johnson, Chen Yao, Sai-xia Ying, Paul Courchesne, Lili Milani, Nalini Raghavachari, Richard Wang, Poching Liu, Eva Reinmaa, Abbas Dehghan, Albert Hofman, André G. Uitterlinden, Dena G. Hernandez, Stefania Bandinelli, Andrew Singleton, David Mel
Published in: PLOS Genetics, Issue 11/3, 2015, Page(s) e1005035, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1005035

Biological interpretation of genome-wide association studies using predicted gene functions

Author(s): Tune H. Pers, Juha M. Karjalainen, Yingleong Chan, Harm-Jan Westra, Andrew R. Wood, Jian Yang, Julian C. Lui, Sailaja Vedantam, Stefan Gustafsson, Tonu Esko, Tim Frayling, Elizabeth K. Speliotes, Michael Boehnke, Soumya Raychaudhuri, Rudolf S. N. Fehrmann, Joel N. Hirschhorn, Lude Franke
Published in: Nature Communications, Issue 6, 2015, Page(s) 5890, ISSN 2041-1723
DOI: 10.1038/ncomms6890

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Author(s): Mari-Anne Vals, Eve Õiglane-Shlik, Margit Nõukas, Riina Shor, Aleksandr Peet, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Katrin Õunap
Published in: European Journal of Human Genetics, Issue 22/11, 2014, Page(s) 1327-1329, ISSN 1018-4813
DOI: 10.1038/ejhg.2014.25

Non-syndromic Tooth Agenesis Associated with a Nonsense Mutation in Ectodysplasin-A (EDA)

Author(s): T. Nikopensius, T. Annilo, T. Jagomagi, C. Gilissen, M. Kals, K. Krjutskov, R. Magi, M. Eelmets, U. Gerst-Talas, M. Remm, M. Saag, A. Hoischen, A. Metspalu
Published in: Journal of Dental Research, Issue 92/6, 2013, Page(s) 507-511, ISSN 0022-0345
DOI: 10.1177/0022034513487210

The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects

Author(s): W J Peyrot, S H Lee, Y Milaneschi, A Abdellaoui, E M Byrne, T Esko, E J C de Geus, G Hemani, J J Hottenga, S Kloiber, D F Levinson, S Lucae, C M Lewis, S P Hamilton, M M Weissman, G Breen, D H Blackwood, S Cichon, A C Heath, F Holsboer, P A Madden, P McGuffin, P Muglia, M L Pergadia, D Lin, B Müller-Myhsok, S Steinberg, H J Grabe, P Lichtenstein, P Magnusson, R H Perlis, M Preisig, J W Smoller, K
Published in: Molecular Psychiatry, Issue 20/6, 2015, Page(s) 735-743, ISSN 1359-4184
DOI: 10.1038/mp.2015.50

Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory

Author(s): Stéphanie M. van den Berg, Marleen H. M. de Moor, Matt McGue, Erik Pettersson, Antonio Terracciano, Karin J. H. Verweij, Najaf Amin, Jaime Derringer, Tõnu Esko, Gerard van Grootheest, Narelle K. Hansell, Jennifer Huffman, Bettina Konte, Jari Lahti, Michelle Luciano, Lindsay K. Matteson, Alexander Viktorin, Jasper Wouda, Arpana Agrawal, Jüri Allik, Laura Bierut, Ulla Broms, Harry Campbell, Georg
Published in: Behavior Genetics, Issue 44/4, 2014, Page(s) 295-313, ISSN 0001-8244
DOI: 10.1007/s10519-014-9654-x

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

Author(s): Harmen H. M. Draisma, René Pool, Michael Kobl, Rick Jansen, Ann-Kristin Petersen, Anika A. M. Vaarhorst, Idil Yet, Toomas Haller, Ayşe Demirkan, Tõnu Esko, Gu Zhu, Stefan Böhringer, Marian Beekman, Jan Bert van Klinken, Werner Römisch-Margl, Cornelia Prehn, Jerzy Adamski, Anton J. M. de Craen, Elisabeth M. van Leeuwen, Najaf Amin, Harish Dharuri, Harm-Jan Westra, Lude Franke, Eco J. C. de Geu
Published in: Nature Communications, Issue 6, 2015, Page(s) 7208, ISSN 2041-1723
DOI: 10.1038/ncomms8208

CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs

Author(s): Margus Putku, Mart Kals, Rain Inno, Silva Kasela, Elin Org, Viktor Kožich, Lili Milani, Maris Laan
Published in: Human Genetics, Issue 134/3, 2015, Page(s) 291-303, ISSN 0340-6717
DOI: 10.1007/s00439-014-1521-6

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

Author(s): M. Graff, J. S. Ngwa, T. Workalemahu, G. Homuth, S. Schipf, A. Teumer, H. Volzke, H. Wallaschofski, G. R. Abecasis, L. Edward, C. Francesco, S. Sanna, P. Scheet, D. Schlessinger, C. Sidore, X. Xiao, Z. Wang, S. J. Chanock, K. B. Jacobs, R. B. Hayes, F. Hu, R. M. Van Dam, R. J. Crout, M. L. Marazita, J. R. Shaffer, L. D. Atwood, C. S. Fox, N. L. Heard-Costa, C. White, A. C. Choh, S. A. Czerwinski,
Published in: Human Molecular Genetics, Issue 22/17, 2013, Page(s) 3597-3607, ISSN 0964-6906
DOI: 10.1093/hmg/ddt205

The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

Author(s): Tove Fall, Sara Hägg, Reedik Mägi, Alexander Ploner, Krista Fischer, Momoko Horikoshi, Antti-Pekka Sarin, Gudmar Thorleifsson, Claes Ladenvall, Mart Kals, Maris Kuningas, Harmen H. M. Draisma, Janina S. Ried, Natalie R. van Zuydam, Ville Huikari, Massimo Mangino, Emily Sonestedt, Beben Benyamin, Christopher P. Nelson, Natalia V. Rivera, Kati Kristiansson, Huei-yi Shen, Aki S. Havulinna, Abbas De
Published in: PLoS Medicine, Issue 10/6, 2013, Page(s) e1001474, ISSN 1549-1676
DOI: 10.1371/journal.pmed.1001474

Defining the role of common variation in the genomic and biological architecture of adult human height

Author(s): Andrew R Wood, Tonu Esko, Jian Yang, Sailaja Vedantam, Tune H Pers, Stefan Gustafsson, Audrey Y Chu, Karol Estrada, Jian'an Luan, Zoltán Kutalik, Najaf Amin, Martin L Buchkovich, Damien C Croteau-Chonka, Felix R Day, Yanan Duan, Tove Fall, Rudolf Fehrmann, Teresa Ferreira, Anne U Jackson, Juha Karjalainen, Ken Sin Lo, Adam E Locke, Reedik Mägi, Evelin Mihailov, Eleonora Porcu, Joshua C Randall,
Published in: Nature Genetics, Issue 46/11, 2014, Page(s) 1173-1186, ISSN 1061-4036
DOI: 10.1038/ng.3097

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Author(s): Katrin Männik, Reedik Mägi, Aurélien Macé, Ben Cole, Anna L. Guyatt, Hashem A. Shihab, Anne M. Maillard, Helene Alavere, Anneli Kolk, Anu Reigo, Evelin Mihailov, Liis Leitsalu, Anne-Maud Ferreira, Margit Nõukas, Alexander Teumer, Erika Salvi, Daniele Cusi, Matt McGue, William G. Iacono, Tom R. Gaunt, Jacques S. Beckmann, Sébastien Jacquemont, Zoltán Kutalik, Nathan Pankratz, Nicholas Timpso
Published in: JAMA, Issue 313/20, 2015, Page(s) 2044, ISSN 0098-7484
DOI: 10.1001/jama.2015.4845

Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity

Author(s): Sara Hägg, Andrea Ganna, Sander W. Van Der Laan, Tonu Esko, Tune H. Pers, Adam E. Locke, Sonja I. Berndt, Anne E. Justice, Bratati Kahali, Marten A. Siemelink, Gerard Pasterkamp, David P. Strachan, Elizabeth K. Speliotes, Kari E. North, Ruth J.F. Loos, Joel N. Hirschhorn, Yudi Pawitan, Erik Ingelsson
Published in: Human Molecular Genetics, Issue 24/23, 2015, Page(s) 6849-6860, ISSN 0964-6906
DOI: 10.1093/hmg/ddv379

Oral health, dental care and mouthwash associated with upper aerodigestive tract cancer risk in Europe: The ARCAGE study

Author(s): Wolfgang Ahrens, Hermann Pohlabeln, Ronja Foraita, Mari Nelis, Pagona Lagiou, Areti Lagiou, Christine Bouchardy, Alena Slamova, Miriam Schejbalova, Franco Merletti, Lorenzo Richiardi, Kristina Kjaerheim, Antonio Agudo, Xavier Castellsague, Tatiana V. Macfarlane, Gary J. Macfarlane, Yuan-Chin Amy Lee, Renato Talamini, Luigi Barzan, Cristina Canova, Lorenzo Simonato, Peter Thomson, Patricia A. McKin
Published in: Oral Oncology, Issue 50/6, 2014, Page(s) 616-625, ISSN 1368-8375
DOI: 10.1016/j.oraloncology.2014.03.001

From pharmacogenetics to pharmacometabolomics: SAM modulates TPMT activity

Author(s): Nataša Karas-Kuželički, Alenka Šmid, Riin Tamm, Andres Metspalu, Irena Mlinarič-Raščan
Published in: Pharmacogenomics, Issue 15/11, 2014, Page(s) 1437-1449, ISSN 1462-2416
DOI: 10.2217/pgs.14.84

Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts

Author(s): Georg Homuth, Simone Wahl, Christian Müller, Claudia Schurmann, Ulrike Mäder, Stefan Blankenberg, Maren Carstensen, Marcus Dörr, Karlhans Endlich, Christian Englbrecht, Stephan B. Felix, Christian Gieger, Harald Grallert, Christian Herder, Thomas Illig, Jochen Kruppa, Carola S. Marzi, Julia Mayerle, Thomas Meitinger, Andres Metspalu, Matthias Nauck, Annette Peters, Wolfgang Rathmann, Eva Reinma
Published in: BMC Medical Genomics, Issue 8/1, 2015, ISSN 1755-8794
DOI: 10.1186/s12920-015-0141-x

Linking a Population Biobank with National Health Registries—The Estonian Experience

Author(s): Liis Leitsalu, Helene Alavere, Mari-Liis Tammesoo, Erkki Leego, Andres Metspalu
Published in: Journal of Personalized Medicine, Issue 5/2, 2015, Page(s) 96-106, ISSN 2075-4426
DOI: 10.3390/jpm5020096

Identification of seven loci affecting mean telomere length and their association with disease

Author(s): Veryan Codd, Christopher P Nelson, Eva Albrecht, Massimo Mangino, Joris Deelen, Jessica L Buxton, Jouke Jan Hottenga, Krista Fischer, Tõnu Esko, Ida Surakka, Linda Broer, Dale R Nyholt, Irene Mateo Leach, Perttu Salo, Sara Hägg, Mary K Matthews, Jutta Palmen, Giuseppe D Norata, Paul F O'Reilly, Danish Saleheen, Najaf Amin, Anthony J Balmforth, Marian Beekman, Rudolf A de Boer, Stefan Böhringer,
Published in: Nature Genetics, Issue 45/4, 2013, Page(s) 422-427, ISSN 1061-4036
DOI: 10.1038/ng.2528

Population genetic differentiation of height and body mass index across Europe

Author(s): Matthew R Robinson, Gibran Hemani, Carolina Medina-Gomez, Massimo Mezzavilla, Tonu Esko, Konstantin Shakhbazov, Joseph E Powell, Anna Vinkhuyzen, Sonja I Berndt, Stefan Gustafsson, Anne E Justice, Bratati Kahali, Adam E Locke, Tune H Pers, Sailaja Vedantam, Andrew R Wood, Wouter van Rheenen, Ole A Andreassen, Paolo Gasparini, Andres Metspalu, Leonard H van den Berg, Jan H Veldink, Fernando Rivaden
Published in: Nature Genetics, Issue 47/11, 2015, Page(s) 1357-1362, ISSN 1061-4036
DOI: 10.1038/ng.3401

Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans

Author(s): Jennifer E. Huffman, Eva Albrecht, Alexander Teumer, Massimo Mangino, Karen Kapur, Toby Johnson, Zoltán Kutalik, Nicola Pirastu, Giorgio Pistis, Lorna M. Lopez, Toomas Haller, Perttu Salo, Anuj Goel, Man Li, Toshiko Tanaka, Abbas Dehghan, Daniela Ruggiero, Giovanni Malerba, Albert V. Smith, Ilja M. Nolte, Laura Portas, Amanda Phipps-Green, Lora Boteva, Pau Navarro, Asa Johansson, Andrew A. Hicks,
Published in: PLOS ONE, Issue 10/3, 2015, Page(s) e0119752, ISSN 1932-6203
DOI: 10.1371/journal.pone.0119752

Copper Metabolism Domain-Containing 1 Represses Genes That Promote Inflammation and Protects Mice From Colitis and Colitis-Associated Cancer

Author(s): Haiying Li, Lillienne Chan, Paulina Bartuzi, Shelby D. Melton, Axel Weber, Shani Ben–Shlomo, Chen Varol, Megan Raetz, Xicheng Mao, Petro Starokadomskyy, Suzanne van Sommeren, Mohamad Mokadem, Heike Schneider, Reid Weisberg, Harm-Jan Westra, Tõnu Esko, Andres Metspalu, Vinod Kumar, William A. Faubion, Felix Yarovinsky, Marten Hofker, Cisca Wijmenga, Michael Kracht, Lude Franke, Vincent Aguirre,
Published in: Gastroenterology, Issue 147/1, 2014, Page(s) 184-195.e3, ISSN 0016-5085
DOI: 10.1053/j.gastro.2014.04.007

BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres

Author(s): Gert-Jan B van Ommen, Outi Törnwall, Christian Bréchot, Georges Dagher, Joakim Galli, Kristian Hveem, Ulf Landegren, Claudio Luchinat, Andres Metspalu, Cecilia Nilsson, Ove V Solesvik, Markus Perola, Jan-Eric Litton, Kurt Zatloukal
Published in: European Journal of Human Genetics, Issue 23/7, 2014, Page(s) 893-900, ISSN 1018-4813
DOI: 10.1038/ejhg.2014.235

Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia

Author(s): Pablo Serrano-Fernandez, Dagmara Dymerska, Grzegorz Kurzawski, Róża Derkacz, Tatiana Sobieszczańska, Zbigniew Banaszkiewicz, Hanno Roomere, Eneli Oitmaa, Andres Metspalu, Ramūnas Janavičius, Pavel Elsakov, Mindaugas Razumas, Kestutis Petrulis, Arvīds Irmejs, Edvīns Miklaševičs, Rodney J. Scott, Jan Lubiński
Published in: Gastroenterology Research and Practice, Issue 2015, 2015, Page(s) 1-10, ISSN 1687-6121
DOI: 10.1155/2015/204089

Ontogeny, distribution and potential roles of 5-hydroxymethylcytosine in human liver function

Author(s): Maxim Ivanov, Mart Kals, Marina Kacevska, Isabel Barragan, Kie Kasuga, Anders Rane, Andres Metspalu, Lili Milani, Magnus Ingelman-Sundberg
Published in: Genome Biology, Issue 14/8, 2013, Page(s) R83, ISSN 1465-6906
DOI: 10.1186/gb-2013-14-8-r83

Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression

Author(s): Vinod Kumar, Harm-Jan Westra, Juha Karjalainen, Daria V. Zhernakova, Tõnu Esko, Barbara Hrdlickova, Rodrigo Almeida, Alexandra Zhernakova, Eva Reinmaa, Urmo Võsa, Marten H. Hofker, Rudolf S. N. Fehrmann, Jingyuan Fu, Sebo Withoff, Andres Metspalu, Lude Franke, Cisca Wijmenga
Published in: PLoS Genetics, Issue 9/1, 2013, Page(s) e1003201, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1003201

Association of Adiposity Genetic Variants With Menarche Timing in 92,105 Women of European Descent

Author(s): L. Fernandez-Rhodes, E. W. Demerath, D. L. Cousminer, R. Tao, J. G. Dreyfus, T. Esko, A. V. Smith, V. Gudnason, T. B. Harris, L. Launer, P. F. McArdle, L. M. Yerges-Armstrong, C. E. Elks, D. P. Strachan, Z. Kutalik, P. Vollenweider, B. Feenstra, H. A. Boyd, A. Metspalu, E. Mihailov, L. Broer, M. C. Zillikens, B. Oostra, C. M. van Duijn, K. L. Lunetta, J. R. B. Perry, A. Murray, D. L. Koller, D. La
Published in: American Journal of Epidemiology, Issue 178/3, 2013, Page(s) 451-460, ISSN 0002-9262
DOI: 10.1093/aje/kws473

Can selenium levels act as a marker of colorectal cancer risk?

Author(s): Marcin R Lener, Satish Gupta, Rodney J Scott, Martin Tootsi, Maria Kulp, Mari-Liis Tammesoo, Anu Viitak, Anders Metspalu, Pablo Serrano-Fernández, Józef Kładny, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Magdalena Muszyńska, Grzegorz Sukiennicki, Anna Jakubowska, Jan Lubiński
Published in: BMC Cancer, Issue 13/1, 2013, Page(s) 214, ISSN 1471-2407
DOI: 10.1186/1471-2407-13-214

The relationship between the Five-Factor Model personality traits and peptic ulcer disease in a large population-based adult sample

Author(s): Anu Realo, Andero Teras, Liisi Kööts-Ausmees, Tõnu Esko, Andres Metspalu, Jüri Allik
Published in: Scandinavian Journal of Psychology, Issue 56/6, 2015, Page(s) 693-699, ISSN 0036-5564
DOI: 10.1111/sjop.12248

Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia

Author(s): Darren R. Brenner, Christopher I. Amos, Yonathan Brhane, Maria N. Timofeeva, Neil Caporaso, Yufei Wang, David C. Christiani, Heike Bickeböller, Ping Yang, Demetrius Albanes, Victoria L. Stevens, Susan Gapstur, James McKay, Paolo Boffetta, David Zaridze, Neonilia Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout,
Published in: Carcinogenesis, Issue 36/11, 2015, Page(s) 1314-1326, ISSN 0143-3334
DOI: 10.1093/carcin/bgv128

Genetic variants of inducible costimulator are associated with allergic asthma susceptibility

Author(s): Anand Kumar Andiappan, Sriram Narayanan, Rachel A. Myers, Bernett Lee, Maartje A. Nieuwenhuis, Alessandra Nardin, Choon-Sik Park, Hyoung Doo Shin, Jeong-Hyun Kim, Harm-Jan Westra, Lude Franke, Tonu Esko, Andres Metspalu, Yik-Ying Teo, Seang Mei Saw, Chiea Chuen Khor, Jianjun Liu, Gerard H. Koppelman, Dirkje S. Postma, Michael Poidinger, John E. Connolly, De Yun Wang, Olaf Rotzschke, Maria A. Curot
Published in: Journal of Allergy and Clinical Immunology, Issue 135/2, 2015, Page(s) 556-558.e13, ISSN 0091-6749
DOI: 10.1016/j.jaci.2014.06.028

Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual

Author(s): Kaarel Krjutškov, Marina Koltšina, Kelli Grand, Urmo Võsa, Martin Sauk, Neeme Tõnisson, Andres Salumets
Published in: Current Genetics, Issue 60/1, 2014, Page(s) 11-16, ISSN 0172-8083
DOI: 10.1007/s00294-013-0398-6

Directional dominance on stature and cognition in diverse human populations

Author(s): Peter K. Joshi, Tonu Esko, Hannele Mattsson, Niina Eklund, Ilaria Gandin, Teresa Nutile, Anne U. Jackson, Claudia Schurmann, Albert V. Smith, Weihua Zhang, Yukinori Okada, Alena Stančáková, Jessica D. Faul, Wei Zhao, Traci M. Bartz, Maria Pina Concas, Nora Franceschini, Stefan Enroth, Veronique Vitart, Stella Trompet, Xiuqing Guo, Daniel I. Chasman, Jeffrey R. O'Connel, Tanguy Corre, Suraj S. N
Published in: Nature, Issue 523/7561, 2015, Page(s) 459-462, ISSN 0028-0836
DOI: 10.1038/nature14618

Mediation Analysis Demonstrates That Trans-eQTLs Are Often Explained by Cis-Mediation: A Genome-Wide Analysis among 1,800 South Asians

Author(s): Brandon L. Pierce, Lin Tong, Lin S. Chen, Ronald Rahaman, Maria Argos, Farzana Jasmine, Shantanu Roy, Rachelle Paul-Brutus, Harm-Jan Westra, Lude Franke, Tonu Esko, Rakibuz Zaman, Tariqul Islam, Mahfuzar Rahman, John A. Baron, Muhammad G. Kibriya, Habibul Ahsan
Published in: PLoS Genetics, Issue 10/12, 2014, Page(s) e1004818, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1004818

Complementary seminovaginal microbiome in couples

Author(s): Reet Mändar, Margus Punab, Natalja Borovkova, Eleri Lapp, Riinu Kiiker, Paul Korrovits, Andres Metspalu, Kaarel Krjutškov, Hiie Nõlvak, Jens-Konrad Preem, Kristjan Oopkaup, Andres Salumets, Jaak Truu
Published in: Research in Microbiology, Issue 166/5, 2015, Page(s) 440-447, ISSN 0923-2508
DOI: 10.1016/j.resmic.2015.03.009

A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe

Author(s): Andrey V. Khrunin, Denis V. Khokhrin, Irina N. Filippova, Tõnu Esko, Mari Nelis, Natalia A. Bebyakova, Natalia L. Bolotova, Janis Klovins, Liene Nikitina-Zake, Karola Rehnström, Samuli Ripatti, Stefan Schreiber, Andre Franke, Milan Macek, Veronika Krulišová, Jan Lubinski, Andres Metspalu, Svetlana A. Limborska
Published in: PLoS ONE, Issue 8/3, 2013, Page(s) e58552, ISSN 1932-6203
DOI: 10.1371/journal.pone.0058552

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author(s): Beben Benyamin, Tonu Esko, Janina S. Ried, Aparna Radhakrishnan, Sita H. Vermeulen, Michela Traglia, Martin Gögele, Denise Anderson, Linda Broer, Clara Podmore, Jian’an Luan, Zoltan Kutalik, Serena Sanna, Peter van der Meer, Toshiko Tanaka, Fudi Wang, Harm-Jan Westra, Lude Franke, Evelin Mihailov, Lili Milani, Jonas Häldin, Juliane Winkelmann, Thomas Meitinger, Joachim Thiery, Annette Peters,
Published in: Nature Communications, Issue 5, 2014, Page(s) 4926, ISSN 2041-1723
DOI: 10.1038/ncomms5926

Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

Author(s): Marta Puig, David Castellano, Lorena Pantano, Carla Giner-Delgado, David Izquierdo, Magdalena Gayà-Vidal, José Ignacio Lucas-Lledó, Tõnu Esko, Chikashi Terao, Fumihiko Matsuda, Mario Cáceres
Published in: PLOS Genetics, Issue 11/10, 2015, Page(s) e1005495, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1005495

A genome-wide association study of early menopause and the combined impact of identified variants

Author(s): J. R. B. Perry, T. Corre, T. Esko, D. I. Chasman, K. Fischer, N. Franceschini, C. He, Z. Kutalik, M. Mangino, L. M. Rose, A. Vernon Smith, L. Stolk, P. Sulem, M. N. Weedon, W. V. Zhuang, A. Arnold, A. Ashworth, S. Bergmann, J. E. Buring, A. Burri, C. Chen, M. C. Cornelis, D. J. Couper, M. O. Goodarzi, V. Gudnason, T. Harris, A. Hofman, M. Jones, P. Kraft, L. Launer, J. S. E. Laven, G. Li, B. McKni
Published in: Human Molecular Genetics, Issue 22/7, 2013, Page(s) 1465-1472, ISSN 0964-6906
DOI: 10.1093/hmg/dds551

Allowing for non-adherence to treatment in a randomized controlled trial of two antidepressants (citalopram versus reboxetine): an example from the GENPOD trial

Author(s): N. J. Wiles, K. Fischer, P. Cowen, D. Nutt, T. J. Peters, G. Lewis, I. R. White
Published in: Psychological Medicine, Issue 44/13, 2014, Page(s) 2855-2866, ISSN 0033-2917
DOI: 10.1017/S0033291714000221

Mapping the Genetic Architecture of Gene Regulation in Whole Blood

Author(s): Katharina Schramm, Carola Marzi, Claudia Schurmann, Maren Carstensen, Eva Reinmaa, Reiner Biffar, Gertrud Eckstein, Christian Gieger, Hans-Jörgen Grabe, Georg Homuth, Gabriele Kastenmüller, Reedik Mägi, Andres Metspalu, Evelin Mihailov, Annette Peters, Astrid Petersmann, Michael Roden, Konstantin Strauch, Karsten Suhre, Alexander Teumer, Uwe Völker, Henry Völzke, Rui Wang-Sattler, Melanie Wal
Published in: PLoS ONE, Issue 9/4, 2014, Page(s) e93844, ISSN 1932-6203
DOI: 10.1371/journal.pone.0093844

Global implementation of genomic medicine: We are not alone

Author(s): T. A. Manolio, M. Abramowicz, F. Al-Mulla, W. Anderson, R. Balling, A. C. Berger, S. Bleyl, A. Chakravarti, W. Chantratita, R. L. Chisholm, V. H. W. Dissanayake, M. Dunn, V. J. Dzau, B.-G. Han, T. Hubbard, A. Kolbe, B. Korf, M. Kubo, P. Lasko, E. Leego, S. Mahasirimongkol, P. P. Majumdar, G. Matthijs, H. L. McLeod, A. Metspalu, P. Meulien, S. Miyano, Y. Naparstek, P. P. O'Rourke, G. P. Patrinos, H
Published in: Science Translational Medicine, Issue 7/290, 2015, Page(s) 290ps13-290ps13, ISSN 1946-6234
DOI: 10.1126/scitranslmed.aab0194

Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

Author(s): C. A. Rietveld, T. Esko, G. Davies, T. H. Pers, P. Turley, B. Benyamin, C. F. Chabris, V. Emilsson, A. D. Johnson, J. J. Lee, C. d. Leeuw, R. E. Marioni, S. E. Medland, M. B. Miller, O. Rostapshova, S. J. van der Lee, A. A. E. Vinkhuyzen, N. Amin, D. Conley, J. Derringer, C. M. van Duijn, R. Fehrmann, L. Franke, E. L. Glaeser, N. K. Hansell, C. Hayward, W. G. Iacono, C. Ibrahim-Verbaas, V. Jaddoe,
Published in: Proceedings of the National Academy of Sciences, Issue 111/38, 2014, Page(s) 13790-13794, ISSN 0027-8424
DOI: 10.1073/pnas.1404623111

Genetic and epigenetic regulation of gene expression in fetal and adult human livers

Author(s): Marc Bonder, Silva Kasela, Mart Kals, Riin Tamm, Kaie Lokk, Isabel Barragan, Wim A Buurman, Patrick Deelen, Jan-Willem Greve, Maxim Ivanov, Sander S Rensen, Jana V van Vliet-Ostaptchouk, Marcel G Wolfs, Jingyuan Fu, Marten H Hofker, Cisca Wijmenga, Alexandra Zhernakova, Magnus Ingelman-Sundberg, Lude Franke, Lili Milani
Published in: BMC Genomics, Issue 15/1, 2014, Page(s) 860, ISSN 1471-2164
DOI: 10.1186/1471-2164-15-860

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu

Author(s): Liis Leitsalu, Toomas Haller, Tõnu Esko, Mari-Liis Tammesoo, Helene Alavere, Harold Snieder, Markus Perola, Pauline C Ng, Reedik Mägi, Lili Milani, Krista Fischer, Andres Metspalu
Published in: International Journal of Epidemiology, Issue 44/4, 2015, Page(s) 1137-1147, ISSN 0300-5771
DOI: 10.1093/ije/dyt268

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

Author(s): Norihiro Kato, Marie Loh, Fumihiko Takeuchi, Niek Verweij, Xu Wang, Weihua Zhang, Tanika N Kelly, Danish Saleheen, Benjamin Lehne, Irene Mateo Leach, Alexander W Drong, James Abbott, Simone Wahl, Sian-Tsung Tan, William R Scott, Gianluca Campanella, Marc Chadeau-Hyam, Uzma Afzal, Tarunveer S Ahluwalia, Marc Jan Bonder, Peng Chen, Abbas Dehghan, Todd L Edwards, Tõnu Esko, Min Jin Go, Sarah E Harri
Published in: Nature Genetics, Issue 47/11, 2015, Page(s) 1282-1293, ISSN 1061-4036
DOI: 10.1038/ng.3405

De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Author(s): U. Vaher, M. Noukas, T. Nikopensius, M. Kals, T. Annilo, M. Nelis, K. Ounap, T. Reimand, I. Talvik, P. Ilves, A. Piirsoo, E. Seppet, A. Metspalu, T. Talvik
Published in: Journal of Child Neurology, Issue 29/12, 2014, Page(s) NP202-NP206, ISSN 0883-0738
DOI: 10.1177/0883073813511300

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

Author(s): Katre Maasalu, Tiit Nikopensius, Sulev Kõks, Margit Nõukas, Mart Kals, Ele Prans, Lidiia Zhytnik, Andres Metspalu, Aare Märtson
Published in: Human Genomics, Issue 9/1, 2015, ISSN 1479-7364
DOI: 10.1186/s40246-015-0028-0

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

Author(s): Marleen H. M. de Moor, Stéphanie M. van den Berg, Karin J. H. Verweij, Robert F. Krueger, Michelle Luciano, Alejandro Arias Vasquez, Lindsay K. Matteson, Jaime Derringer, Tõnu Esko, Najaf Amin, Scott D. Gordon, Narelle K. Hansell, Amy B. Hart, Ilkka Seppälä, Jennifer E. Huffman, Bettina Konte, Jari Lahti, Minyoung Lee, Mike Miller, Teresa Nutile, Toshiko Tanaka, Alexander Teumer, Alexander Vik
Published in: JAMA Psychiatry, Issue 72/7, 2015, Page(s) 642, ISSN 2168-622X
DOI: 10.1001/jamapsychiatry.2015.0554

Biological insights from 108 schizophrenia-associated genetic loci

Author(s): Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T. R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A. Belliveau Jr, Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Blac
Published in: Nature, Issue 511/7510, 2014, Page(s) 421-427, ISSN 0028-0836
DOI: 10.1038/nature13595

Occupational irritants and asthma: an Estonian cross-sectional study of 34 000 adults

Author(s): O. Dumas, E. Laurent, J. Bousquet, A. Metspalu, L. Milani, F. Kauffmann, N. Le Moual
Published in: European Respiratory Journal, Issue 44/3, 2014, Page(s) 647-656, ISSN 0903-1936
DOI: 10.1183/09031936.00172213

Improved treatment and prognosis after acute myocardial infarction in Estonia: cross-sectional study from a high risk country

Author(s): Aet Saar, Toomas Marandi, Tiia Ainla, Krista Fischer, Mai Blöndal, Jaan Eha
Published in: BMC Cardiovascular Disorders, Issue 15/1, 2015, ISSN 1471-2261
DOI: 10.1186/s12872-015-0129-7

Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families

Author(s): Priit Palta, Lauris Kaplinski, Liina Nagirnaja, Andres Veidenberg, Märt Möls, Mari Nelis, Tõnu Esko, Andres Metspalu, Maris Laan, Maido Remm
Published in: PLOS ONE, Issue 10/4, 2015, Page(s) e0122713, ISSN 1932-6203
DOI: 10.1371/journal.pone.0122713

Within-Trait Heterogeneity in Age Group Differences in Personality Domains and Facets: Implications for the Development and Coherence of Personality Traits

Author(s): René Mõttus, Anu Realo, Jüri Allik, Tõnu Esko, Andres Metspalu, Wendy Johnson
Published in: PLOS ONE, Issue 10/3, 2015, Page(s) e0119667, ISSN 1932-6203
DOI: 10.1371/journal.pone.0119667

Biomarker Profiling by Nuclear Magnetic Resonance Spectroscopy for the Prediction of All-Cause Mortality: An Observational Study of 17,345 Persons

Author(s): Krista Fischer, Johannes Kettunen, Peter Würtz, Toomas Haller, Aki S. Havulinna, Antti J. Kangas, Pasi Soininen, Tõnu Esko, Mari-Liis Tammesoo, Reedik Mägi, Steven Smit, Aarno Palotie, Samuli Ripatti, Veikko Salomaa, Mika Ala-Korpela, Markus Perola, Andres Metspalu
Published in: PLoS Medicine, Issue 11/2, 2014, Page(s) e1001606, ISSN 1549-1676
DOI: 10.1371/journal.pmed.1001606

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author(s): Beben Benyamin, Tonu Esko, Janina S. Ried, Aparna Radhakrishnan, Sita H. Vermeulen, Michela Traglia, Martin Gögele, Denise Anderson, Linda Broer, Clara Podmore, Jiańan Luan, Zoltan Kutalik, Serena Sanna, Peter van der Meer, Toshiko Tanaka, Fudi Wang, Harm-Jan Westra, Lude Franke, Evelin Mihailov, Lili Milani, Jonas Hälldin, Juliane Winkelmann, Thomas Meitinger, Joachim Thiery, Annette Peters, M
Published in: Nature Communications, Issue 6, 2015, Page(s) 6542, ISSN 2041-1723
DOI: 10.1038/ncomms7542

Sex- and age-interacting eQTLs in human complex diseases

Author(s): C. Yao, R. Joehanes, A. D. Johnson, T. Huan, T. Esko, S. Ying, J. E. Freedman, J. Murabito, K. L. Lunetta, A. Metspalu, P. J. Munson, D. Levy
Published in: Human Molecular Genetics, Issue 23/7, 2014, Page(s) 1947-1956, ISSN 0964-6906
DOI: 10.1093/hmg/ddt582

Genetics of rheumatoid arthritis contributes to biology and drug discovery

Author(s): Yukinori Okada, Di Wu, Gosia Trynka, Towfique Raj, Chikashi Terao, Katsunori Ikari, Yuta Kochi, Koichiro Ohmura, Akari Suzuki, Shinji Yoshida, Robert R. Graham, Arun Manoharan, Ward Ortmann, Tushar Bhangale, Joshua C. Denny, Robert J. Carroll, Anne E. Eyler, Jeffrey D. Greenberg, Joel M. Kremer, Dimitrios A. Pappas, Lei Jiang, Jian Yin, Lingying Ye, Ding-Feng Su, Jian Yang, Gang Xie, Ed Keystone,
Published in: Nature, Issue 506/7488, 2013, Page(s) 376-381, ISSN 0028-0836
DOI: 10.1038/nature12873

Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance

Author(s): Y. F. M. Ramos, S. Metrustry, N. Arden, A. C. Bay-Jensen, M. Beekman, A. J. M. de Craen, L. A. Cupples, T. Esko, E. Evangelou, D. T. Felson, D. J. Hart, J. P. A. Ioannidis, M. Karsdal, M. Kloppenburg, F. Lafeber, A. Metspalu, K. Panoutsopoulou, P. E. Slagboom, T. D. Spector, E. W. E. van Spil, A. G. Uitterlinden, Y. Zhu, A. M. Valdes, J. B. J. van Meurs, I. Meulenbelt, P. Arp, M. Jhamai, M. Moorho
Published in: Journal of Medical Genetics, Issue 51/9, 2014, Page(s) 596-604, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2014-102478

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

Author(s): Jian Yang, Andrew Bakshi, Zhihong Zhu, Gibran Hemani, Anna A E Vinkhuyzen, Sang Hong Lee, Matthew R Robinson, John R B Perry, Ilja M Nolte, Jana V van Vliet-Ostaptchouk, Harold Snieder, Tonu Esko, Lili Milani, Reedik Mägi, Andres Metspalu, Anders Hamsten, Patrik K E Magnusson, Nancy L Pedersen, Erik Ingelsson, Nicole Soranzo, Matthew C Keller, Naomi R Wray, Michael E Goddard, Peter M Visscher
Published in: Nature Genetics, Issue 47/10, 2015, Page(s) 1114-1120, ISSN 1061-4036
DOI: 10.1038/ng.3390

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

Author(s): Lam C. Tsoi, Sarah L. Spain, Eva Ellinghaus, Philip E. Stuart, Francesca Capon, Jo Knight, Trilokraj Tejasvi, Hyun M. Kang, Michael H. Allen, Sylviane Lambert, Stefan W. Stoll, Stephan Weidinger, Johann E. Gudjonsson, Sulev Koks, Külli Kingo, Tonu Esko, Sayantan Das, Andres Metspalu, Michael Weichenthal, Charlotta Enerback, Gerald G. Krueger, John J. Voorhees, Vinod Chandran, Cheryl F. Rosen, Pro
Published in: Nature Communications, Issue 6, 2015, Page(s) 7001, ISSN 2041-1723
DOI: 10.1038/ncomms8001

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

Author(s): Olga Žilina, Marina Koltšina, Raivo Raid, Ants Kurg, Neeme Tõnisson, Andres Salumets
Published in: BMC Genomics, Issue 16/1, 2015, ISSN 1471-2164
DOI: 10.1186/s12864-015-1916-3

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

Author(s): Christina L Usher, Robert E Handsaker, Tõnu Esko, Marcus A Tuke, Michael N Weedon, Alex R Hastie, Han Cao, Jennifer E Moon, Seva Kashin, Christian Fuchsberger, Andres Metspalu, Carlos N Pato, Michele T Pato, Mark I McCarthy, Michael Boehnke, David M Altshuler, Timothy M Frayling, Joel N Hirschhorn, Steven A McCarroll
Published in: Nature Genetics, Issue 47/8, 2015, Page(s) 921-925, ISSN 1061-4036
DOI: 10.1038/ng.3340

Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits

Author(s): Zhihong Zhu, Andrew Bakshi, Anna A.E. Vinkhuyzen, Gibran Hemani, Sang Hong Lee, Ilja M. Nolte, Jana V. van Vliet-Ostaptchouk, Harold Snieder, Tonu Esko, Lili Milani, Reedik Mägi, Andres Metspalu, William G. Hill, Bruce S. Weir, Michael E. Goddard, Peter M. Visscher, Jian Yang
Published in: The American Journal of Human Genetics, Issue 96/3, 2015, Page(s) 377-385, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2015.01.001

Age-related profiling of DNA methylation in CD8+ T cells reveals changes in immune response and transcriptional regulator genes

Author(s): Liina Tserel, Raivo Kolde, Maia Limbach, Konstantin Tretyakov, Silva Kasela, Kai Kisand, Mario Saare, Jaak Vilo, Andres Metspalu, Lili Milani, Pärt Peterson
Published in: Scientific Reports, Issue 5, 2015, Page(s) 13107, ISSN 2045-2322
DOI: 10.1038/srep13107

New genetic loci link adipose and insulin biology to body fat distribution

Author(s): Dmitry Shungin, Thomas W. Winkler, Damien C. Croteau-Chonka, Teresa Ferreira, Adam E. Locke, Reedik Mägi, Rona J. Strawbridge, Tune H. Pers, Krista Fischer, Anne E. Justice, Tsegaselassie Workalemahu, Joseph M. W. Wu, Martin L. Buchkovich, Nancy L. Heard-Costa, Tamara S. Roman, Alexander W. Drong, Ci Song, Stefan Gustafsson, Felix R. Day, Tonu Esko, Tove Fall, Zoltán Kutalik, Jian’an Luan, Jos
Published in: Nature, Issue 518/7538, 2015, Page(s) 187-196, ISSN 0028-0836
DOI: 10.1038/nature14132

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

Author(s): Louise V Wain, Nick Shrine, Suzanne Miller, Victoria E Jackson, Ioanna Ntalla, María Soler Artigas, Charlotte K Billington, Abdul Kader Kheirallah, Richard Allen, James P Cook, Kelly Probert, Ma'en Obeidat, Yohan Bossé, Ke Hao, Dirkje S Postma, Peter D Paré, Adaikalavan Ramasamy, Reedik Mägi, Evelin Mihailov, Eva Reinmaa, Erik Melén, Jared O'Connell, Eleni Frangou, Olivier Delaneau, Colin Fre
Published in: The Lancet Respiratory Medicine, Issue 3/10, 2015, Page(s) 769-781, ISSN 2213-2600
DOI: 10.1016/S2213-2600(15)00283-0

Cell Specific eQTL Analysis without Sorting Cells

Author(s): Harm-Jan Westra, Danny Arends, Tõnu Esko, Marjolein J. Peters, Claudia Schurmann, Katharina Schramm, Johannes Kettunen, Hanieh Yaghootkar, Benjamin P. Fairfax, Anand Kumar Andiappan, Yang Li, Jingyuan Fu, Juha Karjalainen, Mathieu Platteel, Marijn Visschedijk, Rinse K. Weersma, Silva Kasela, Lili Milani, Liina Tserel, Pärt Peterson, Eva Reinmaa, Albert Hofman, André G. Uitterlinden, Fernando Ri
Published in: PLOS Genetics, Issue 11/5, 2015, Page(s) e1005223, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1005223

Effects of Metformin on Metabolite Profiles and LDL Cholesterol in Patients With Type 2 Diabetes

Author(s): Tao Xu, Stefan Brandmaier, Ana C. Messias, Christian Herder, Harmen H.M. Draisma, Ayse Demirkan, Zhonghao Yu, Janina S. Ried, Toomas Haller, Margit Heier, Monica Campillos, Gisela Fobo, Renee Stark, Christina Holzapfel, Jonathan Adam, Shen Chi, Markus Rotter, Tommaso Panni, Anne S. Quante, Ying He, Cornelia Prehn, Werner Roemisch-Margl, Gabi Kastenmüller, Gonneke Willemsen, René Pool, Katarina K
Published in: Diabetes Care, Issue 38/10, 2015, Page(s) 1858-1867, ISSN 0149-5992
DOI: 10.2337/dc15-0658

Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults

Author(s): E. Zimmermann, L. H. Ängquist, S. S. Mirza, J. H. Zhao, D. I. Chasman, K. Fischer, Q. Qi, A. V. Smith, M. Thinggaard, M. N. Jarczok, M. A. Nalls, S. Trompet, N. J. Timpson, B. Schmidt, A. U. Jackson, L. P. Lyytikäinen, N. Verweij, M. Mueller-Nurasyid, M. Vikström, P. Marques-Vidal, A. Wong, K. Meidtner, R. P. Middelberg, R. J. Strawbridge, L. Christiansen, K. O. Kyvik, A. Hamsten, T. Jääskel
Published in: Obesity Reviews, Issue 16/4, 2015, Page(s) 327-340, ISSN 1467-7881
DOI: 10.1111/obr.12263

ePerMed - Rise of scientific excellence and collaboration for implementing personalised medicine in Estonia - H2020

Author(s): Andres Metspalu
Published in: Impact, Issue 2018/7, 2018, Page(s) 53-55, ISSN 2398-7073
DOI: 10.21820/23987073.2018.7.53

Comprehensive Meta-analysis of MicroRNA Expression Using a Robust Rank Aggregation Approach

Author(s): Urmo Võsa, Raivo Kolde, Jaak Vilo, Andres Metspalu, Tarmo Annilo
Published in: RNA Mapping, 2014, Page(s) 361-373
DOI: 10.1007/978-1-4939-1062-5_28