American Journal of Human Genetics, 0002-9297

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  1. 2020
  2. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

    Iris Kramer, Annelie Augustinsson, Marjanka K Schmidt & et al. et al., 2020, In : American Journal of Human Genetics. 107, 5, p. 837-848 12 p.

    Research output: Contribution to journalArticle

  3. Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?

    Anna Middleton, Richard Milne, Mohamed A. Almarri, Shamim Anwer, Jerome Atutornu, Elena E. Baranova, Paul Bevan, Maria Cerezo, Yali Cong, Christine Critchley, Josepine Fernow, Peter Goodhand, Qurratulain Hasan, Aiko Hibino, Gry Houeland, Heidi C. Howard, S. Zakir Hussain, Charlotta Ingvoldstad Malmgren, Vera L. Izhevskaya, Aleksandra Jędrzejak & 29 others, Cao Jinhong, Megumi Kimura, Erika Kleiderman, Brandi Leach, Keying Liu, Deborah Mascalzoni, Álvaro Mendes, Jusaku Minari, Nan Wang, Dianne Nicol, Emilia Niemiec, Christine Patch, Jack Pollard, Barbara Prainsack, Marie Rivière, Lauren Robarts, Jonathan Roberts, Virginia Romano, Haytham A. Sheerah, James Smith, Alexandra Soulier, Claire Steed, Vigdís Stefànsdóttir, Cornelia Tandre, Adrian Thorogood, Torsten H. Voigt, Anne V. West, Go Yoshizawa & Katherine I. Morley, 2020, In : American Journal of Human Genetics. 107, 4, p. 743-752 10 p.

    Research output: Contribution to journalArticle

  4. 2019
  5. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

    Nasim Mavaddat, Carolina Ellberg, Ute Krüger, Håkan Olsson, Asta Försti, Douglas F Easton & et al. et al., 2019, In : American Journal of Human Genetics. 104, 1, p. 21-34 14 p.

    Research output: Contribution to journalArticle

  6. 2018
  7. Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

    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 & 7 others, Veikko Salomaa, Leif Groop, Aarno Palotie, Benjamin M Neale, Samuli Ripatti, Matti Pirinen & Mark J Daly, 2018 May, In : American Journal of Human Genetics. 102, 5, p. 760-775 16 p.

    Research output: Contribution to journalArticle

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

    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 & 34 others, Raymond Noordam, Stella Aslibekyan, Hugues Aschard, Traci M. Bartz, Rajkumar Dorajoo, Yongmei Liu, Alisa K. Manning, Tuomo Rankinen, Albert Vernon Smith, Salman M. Tajuddin, Bamidele O. Tayo, Helen R. Warren, Wei Zhao, Yanhua Zhou, Nana Matoba, Tamar Sofer, Maris Alver, Marzyeh Amini, Mathilde Boissel, Jin Fang Chai, Xu Chen, Jasmin Divers, Ilaria Gandin, Chuan Gao, Franco Giulianini, Anuj Goel, Sarah E. Harris, Tibor V. Varga, Frida Renström, Paul W. Franks, The CHARGE Neurology Working Group The CHARGE Neurology Working Group, The COGENT-Kidney Consortium The COGENT-Kidney Consortium, The GIANT Consortium The GIANT Consortium & Lifelines Cohort Study Lifelines Cohort Study, 2018 Mar 1, In : American Journal of Human Genetics. 102, 3, p. 375-400 26 p.

    Research output: Contribution to journalArticle

  9. Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

    Carolina Medina-Gomez, John P. Kemp, Katerina Trajanoska, Jian'an Luan, Alessandra Chesi, Tarunveer S. Ahluwalia, Dennis O. Mook-Kanamori, Annelies Ham, Fernando P. Hartwig, Daniel S. Evans, Raimo Joro, Ivana Nedeljkovic, Hou Feng Zheng, Kun Zhu, Mustafa Atalay, Ching Ti Liu, Maria Nethander, Linda Broer, Gudmar Porleifsson, Benjamin H. Mullin & 69 others, Samuel K. Handelman, Mike A. Nalls, Leon E. Jessen, Denise H.M. Heppe, J. Brent Richards, Carol Wang, Bo Chawes, Katharina E. Schraut, Najaf Amin, Nick Wareham, David Karasik, Nathalie Van der Velde, M. Arfan Ikram, Babette S. Zemel, Yanhua Zhou, Christian J. Carlsson, Yongmei Liu, Fiona E. McGuigan, Cindy G. Boer, Klaus Bønnelykke, Stuart H. Ralston, John A. Robbins, John P. Walsh, M. Carola Zillikens, Claudia Langenberg, Ruifang Li-Gao, Frances M.K. Williams, Tamara B. Harris, Kristina Akesson, Rebecca D. Jackson, Gunnar Sigurdsson, Martin den Heijer, Bram C.J. van der Eerden, Jeroen van de Peppel, Timothy D. Spector, Craig Pennell, Bernardo L. Horta, Janine F. Felix, Jing Hua Zhao, Scott G. Wilson, Renée de Mutsert, Hans Bisgaard, Unnur Styrkársdóttir, Vincent W. Jaddoe, Eric Orwoll, Timo A. Lakka, Robert Scott, Struan F.A. Grant, Mattias Lorentzon, Cornelia M. van Duijn, James F. Wilson, Kari Stefansson, Bruce M. Psaty, Douglas P. Kiel, Claes Ohlsson, Evangelia Ntzani, Andre J. van Wijnen, Vincenzo Forgetta, Mohsen Ghanbari, John G. Logan, Graham R. Williams, J. H.Duncan Bassett, Peter I. Croucher, Evangelos Evangelou, Andre G. Uitterlinden, Cheryl L. Ackert-Bicknell, Jonathan H. Tobias, David M. Evans & Fernando Rivadeneira, 2018 Jan 4, In : American Journal of Human Genetics. 102, 1, p. 88-102 15 p.

    Research output: Contribution to journalArticle

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

    Symen Ligthart, Magnus Karlsson, Behrooz Z. Alizadeh, Lifelines Cohort Study Lifelines Cohort Study & CHARGE Inflammation Working Group CHARGE Inflammation Working Group, 2018, In : American Journal of Human Genetics. 103, 5, p. 691-706 16 p.

    Research output: Contribution to journalArticle

  11. 2017
  12. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

    Christian Windpassinger, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Stéphane Blouin, Nur'Ain B. Ali, Alvin Yu Jin Ng, Hao Lu, Sumanty Tohari, S. Zakiah A. Talib, Noémi van Hul, Matias J. Caldez, Lionel Van Maldergem, Gökhan Yigit, Hülya Kayserili, Sameh A. Youssef, Vincenzo Coppola, Alain de Bruin & 17 others, Lino Tessarollo, Hyungwon Choi, Verena Rupp, Katharina Roetzer, Paul Roschger, Klaus Klaushofer, Janine Altmüller, Sudipto Roy, Byrappa Venkatesh, Rudolf Ganger, Franz Grill, Farid Ben Chehida, Bernd Wollnik, Umut Altunoglu, Ali Al Kaissi, Bruno Reversade & Philipp Kaldis, 2017 Sep 7, In : American Journal of Human Genetics. 101, 3, p. 391-403 13 p.

    Research output: Contribution to journalArticle

  13. Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

    Despoina Manousaki, Tom Dudding, Simon Haworth, Yi-Hsiang Hsu, Ching-Ti Liu, Carolina Medina-Gómez, Trudy Voortman, Nathalie van der Velde, Håkan Melhus, Cassianne Robinson-Cohen, Diana L Cousminer, Maria Nethander, Liesbeth Vandenput, Raymond Noordam, Vincenzo Forgetta, Celia M T Greenwood, Mary L. Biggs, Bruce M. Psaty, Jerome I. Rotter, Babette S. Zemel & 33 others, Jonathan A. Mitchell, Bruce Taylor, Mattias Lorentzon, Magnus Karlsson, Vincent W. V. Jaddoe, Henning Tiemeier, Natalia Campos-Obando, Oscar H. Franco, Andre G. Utterlinden, Linda Broer, Natasja M. van Schoor, Annelies C Ham, M Arfan Ikram, David Karasik, Renée De Mutsert, Frits R Rosendaal, Martin den Heijer, Thomas J Wang, Lars Lind, Eric S Orwoll, Dennis O. Mook-Kanamori, Karl Michaëlsson, Bryan Kestenbaum, Claes Ohlsson, Dan Mellström, Lisette C P G M de Groot, Struan F A Grant, Douglas P Kiel, M. Carola Zillikens, Fernando Rivadeneira, Stephen J. Sawcer, Nicholas J. Timpson & J Brent Richards, 2017 Aug 3, In : American Journal of Human Genetics. 101, 2, p. 227-238 12 p.

    Research output: Contribution to journalArticle

  14. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

    Lisa Heinz, Gwang Jin Kim, Slaheddine Marrakchi, Julie Christiansen, Hamida Turki, Marc Alexander Rauschendorf, Mark Lathrop, Ingrid Hausser, Andreas D. Zimmer & Judith Fischer, 2017, In : American Journal of Human Genetics. 100, 6, p. 926-939 14 p.

    Research output: Contribution to journalArticle

  15. 2016
  16. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

    Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Beryl Royer-Bertrand, Martial K Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani V Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing & 7 others, Alexandre P Moulin, Frans P M Cremers, Ronald Roepman, Yvan Arsenijevic, Miltiadis K Tsilimbaris, Sten Andréasson & Carlo Rivolta, 2016 Sep 1, In : American Journal of Human Genetics. 99, 3, p. 770-776 7 p.

    Research output: Contribution to journalArticle

  17. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

    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 & 93 others, Laura M. Raffield, Amber Burt, Traci M. Bartz, Diane M. Becker, Lewis C. Becker, Eric Boerwinkle, Jette Bork-Jensen, Erwin P. Bottinger, Michelle L. O'Donoghue, David R. Crosslin, Simon de Denus, Marie Pierre Dubé, Paul Elliott, Gunnar Engström, Michele K. Evans, James S. Floyd, Myriam Fornage, He Gao, Andreas Greinacher, Vilmundur Gudnason, Torben Hansen, Tamara B. Harris, Caroline Hayward, Jussi Hernesniemi, Heather M. Highland, Joel N. Hirschhorn, Albert Hofman, Marguerite R. Irvin, Mika Kähönen, Ethan Lange, Lenore J. Launer, Terho Lehtimäki, Jin Li, David C M Liewald, Allan Linneberg, Yongmei Liu, Yingchang Lu, Leo Pekka Lyytikäinen, Reedik Mägi, Rasika A. Mathias, Olle Melander, Andres Metspalu, Nina Mononen, Mike A. Nalls, Deborah A. Nickerson, Kjell Nikus, Chris J. O'Donnell, Marju Orho-Melander, Oluf Pedersen, Astrid Petersmann, Linda Polfus, Bruce M. Psaty, Olli T. Raitakari, Emma Raitoharju, Melissa Richard, Kenneth M. Rice, Fernando Rivadeneira, Jerome I. Rotter, Frank Schmidt, Albert Vernon Smith, John M. Starr, Kent D. Taylor, Alexander Teumer, Betina H. Thuesen, Eric S. Torstenson, Russell P. Tracy, Ioanna Tzoulaki, Neil A. Zakai, Caterina Vacchi-Suzzi, Cornelia M. van Duijn, Frank J A van Rooij, Mary Cushman, Ian J. Deary, Digna R. Velez Edwards, Anne Claire Vergnaud, Lars Wallentin, Dawn M. Waterworth, Harvey D. White, James G. Wilson, Alan B. Zonderman, Sekar Kathiresan, Niels Grarup, Tõnu Esko, Ruth J F Loos, Leslie A. Lange, Nauder Faraday, Nada A. Abumrad, Todd L. Edwards, Santhi K. Ganesh, Paul L. Auer, Andrew D. Johnson, Alexander P. Reiner & Guillaume Lettre, 2016 Jul 7, In : American Journal of Human Genetics. 99, 1, p. 8-21 14 p.

    Research output: Contribution to journalArticle

  18. 2014
  19. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland

    Sophie R Wang, Vineeta Agarwala, Jason Flannick, Charleston W K Chiang, David Altshuler, Joel N Hirschhorn, Jasmina Kravic & GoT2D Consortium GoT2D Consortium, 2014 May 1, In : American Journal of Human Genetics. 94, 5, p. 710-20 11 p.

    Research output: Contribution to journalArticle

  20. A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity

    Elaine T. Lim, Yangfan P. Liu, Yingleong Chan, Tiinamaija Tuomi, AnnMari Karajamaki, Erik Madsen, David M. Altshuler, Soumya Raychaudhuri, Leif Groop, Jason Fannick, Joel N. Hirschhorn, Nicholas Katsanis & Mark Daly, 2014, In : American Journal of Human Genetics. 95, 5, p. 509-520

    Research output: Contribution to journalArticle

  21. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

    Gina M Peloso, Paul L Auer, Joshua C Bis, Arend Voorman, Alanna C Morrison, Nathan O Stitziel, Jennifer A Brody, Sumeet A Khetarpal, Jacy R Crosby, Myriam Fornage, Aaron Isaacs, Johanna Jakobsdottir, Mary F Feitosa, Gail Davies, Jennifer E Huffman, Ani Manichaikul, Brian Davis, Kurt Lohman, Aron Y Joon, Albert V Smith & 79 others, Megan L Grove, Paolo Zanoni, Valeska Redon, Serkalem Demissie, Kim Lawson, Ulrike Peters, Christopher Carlson, Rebecca D Jackson, Kelli K Ryckman, Rachel H Mackey, Jennifer G Robinson, David S Siscovick, Pamela J Schreiner, Josyf C Mychaleckyj, James S Pankow, Albert Hofman, Andre G Uitterlinden, Tamara B Harris, Kent D Taylor, Jeanette M Stafford, Lindsay M Reynolds, Riccardo E Marioni, Abbas Dehghan, Oscar H Franco, Aniruddh P Patel, Yingchang Lu, George Hindy, Omri Gottesman, Erwin P Bottinger, Olle Melander, Marju Orho-Melander, Ruth J F Loos, Stefano Duga, Piera Angelica Merlini, Martin Farrall, Anuj Goel, Rosanna Asselta, Domenico Girelli, Nicola Martinelli, Svati H Shah, William E Kraus, Mingyao Li, Daniel J Rader, Muredach P Reilly, Ruth McPherson, Hugh Watkins, Diego Ardissino, Qunyuan Zhang, Judy Wang, Michael Y Tsai, Herman A Taylor, Adolfo Correa, Michael E Griswold, Leslie A Lange, John M Starr, Igor Rudan, Gudny Eiriksdottir, Lenore J Launer, Jose M Ordovas, Daniel Levy, Y-D Ida Chen, Alexander P Reiner, Caroline Hayward, Ozren Polasek, Ian J Deary, Ingrid B Borecki, Yongmei Liu, Vilmundur Gudnason, James G Wilson, Cornelia M van Duijn, Charles Kooperberg, Stephen S Rich, Bruce M Psaty, Jerome I Rotter, Christopher J O'Donnell, Kenneth Rice, Eric Boerwinkle, Sekar Kathiresan & L Adrienne Cupples, 2014, In : American Journal of Human Genetics. 94, 2, p. 223-232

    Research output: Contribution to journalArticle

  22. Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.

    Vinicius Tragante, Michael R Barnes, Santhi K Ganesh, Matthew B Lanktree, Wei Guo, Nora Franceschini, Erin N Smith, Toby Johnson, Michael V Holmes, Sandosh Padmanabhan, Konrad J Karczewski, Berta Almoguera, John Barnard, Jens Baumert, Yen-Pei Christy Chang, Clara C Elbers, Martin Farrall, Mary E Fischer, Tom R Gaunt, Johannes M I H Gho & 116 others, Christian Gieger, Anuj Goel, Yan Gong, Aaron Isaacs, Marcus E Kleber, Irene Mateo Leach, Caitrin W McDonough, Matthijs F L Meijs, Olle Melander, Christopher P Nelson, Ilja M Nolte, Nathan Pankratz, Tom S Price, Jonathan Shaffer, Sonia Shah, Maciej Tomaszewski, Peter J van der Most, Erik P A Van Iperen, Judith M Vonk, Kate Witkowska, Caroline O L Wong, Li Zhang, Amber L Beitelshees, Gerald S Berenson, Deepak L Bhatt, Morris Brown, Amber Burt, Rhonda M Cooper-Dehoff, John M Connell, Karen J Cruickshanks, Sean P Curtis, George Davey-Smith, Christian Delles, Ron T Gansevoort, Xiuqing Guo, Shen Haiqing, Claire E Hastie, Marten H Hofker, G Kees Hovingh, Daniel S Kim, Susan A Kirkland, Barbara E Klein, Ronald Klein, Yun R Li, Steffi Maiwald, Christopher Newton-Cheh, Eoin T O'Brien, N Charlotte Onland-Moret, Walter Palmas, Afshin Parsa, Brenda W Penninx, Mary Pettinger, Ramachandran S Vasan, Jane E Ranchalis, Paul M Ridker, Lynda M Rose, Peter Sever, Daichi Shimbo, Laura Steele, Ronald P Stolk, Barbara Thorand, Mieke D Trip, Cornelia M van Duijn, W Monique Verschuren, Cisca Wijmenga, Sharon Wyatt, J Hunter Young, Aeilko H Zwinderman, Connie R Bezzina, Eric Boerwinkle, Juan P Casas, Mark J Caulfield, Aravinda Chakravarti, Daniel I Chasman, Karina W Davidson, Pieter A Doevendans, Anna F Dominiczak, Garret A Fitzgerald, John G Gums, Myriam Fornage, Hakon Hakonarson, Indrani Halder, Hans L Hillege, Thomas Illig, Gail P Jarvik, Julie A Johnson, John J P Kastelein, Wolfgang Koenig, Meena Kumari, Winfried März, Sarah S Murray, Jeffery R O'Connell, Albertine J Oldehinkel, James S Pankow, Daniel J Rader, Susan Redline, Muredach P Reilly, Eric E Schadt, Kandice Kottke-Marchant, Harold Snieder, Michael Snyder, Alice V Stanton, Martin D Tobin, André G Uitterlinden, Pim van der Harst, Yvonne T van der Schouw, Nilesh J Samani, Hugh Watkins, Andrew D Johnson, Alex P Reiner, Xiaofeng Zhu, Paul I W de Bakker, Daniel Levy, Folkert W Asselbergs, Patricia B Munroe & Brendan J Keating, 2014, In : American Journal of Human Genetics. 94, 3, p. 349-360

    Research output: Contribution to journalArticle

  23. Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.

    Christine F Skibola, Sonja I Berndt, Joseph Vijai, Lucia Conde, Zhaoming Wang, Meredith Yeager, Paul I W de Bakker, Brenda M Birmann, Claire M Vajdic, Jia-Nee Foo, Paige M Bracci, Roel C H Vermeulen, Susan L Slager, Silvia de Sanjose, Sophia S Wang, Martha S Linet, Gilles Salles, Qing Lan, Gianluca Severi, Henrik Hjalgrim & 92 others, Tracy Lightfoot, Mads Melbye, Jian Gu, Hervé Ghesquières, Brian K Link, Lindsay M Morton, Elizabeth A Holly, Alex Smith, Lesley F Tinker, Lauren R Teras, Anne Kricker, Nikolaus Becker, Mark P Purdue, John J Spinelli, Yawei Zhang, Graham G Giles, Paolo Vineis, Alain Monnereau, Kimberly A Bertrand, Demetrius Albanes, Anne Zeleniuch-Jacquotte, Attilio Gabbas, Charles C Chung, Laurie Burdett, Amy Hutchinson, Charles Lawrence, Rebecca Montalvan, Liming Liang, Jinyan Huang, Baoshan Ma, Jianjun Liu, Hans-Olov Adami, Bengt Glimelius, Yuanqing Ye, Grzegorz S Nowakowski, Ahmet Dogan, Carrie A Thompson, Thomas M Habermann, Anne J Novak, Mark Liebow, Thomas E Witzig, George J Weiner, Maryjean Schenk, Patricia Hartge, Anneclaire J De Roos, Wendy Cozen, Degui Zhi, Nicholas K Akers, Jacques Riby, Martyn T Smith, Mortimer Lacher, Danylo J Villano, Ann Maria, Eve Roman, Eleanor Kane, Rebecca D Jackson, Kari E North, W Ryan Diver, Jenny Turner, Bruce K Armstrong, Yolanda Benavente, Paolo Boffetta, Paul Brennan, Lenka Foretova, Marc Maynadie, Anthony Staines, James McKay, Angela R Brooks-Wilson, Tongzhang Zheng, Theodore R Holford, Saioa Chamosa, Rudolph Kaaks, Rachel S Kelly, Bodil Ohlsson, Ruth C Travis, Elisabete Weiderpass, Jacqueline Clavel, Edward Giovannucci, Peter Kraft, Jarmo Virtamo, Patrizio Mazza, Pierluigi Cocco, Maria Grazia Ennas, Brian C H Chiu, Joseph F Fraumeni, Alexandra Nieters, Kenneth Offit, Xifeng Wu, James R Cerhan, Karin E Smedby, Stephen J Chanock & Nathaniel Rothman, 2014, In : American Journal of Human Genetics. 95, 4, p. 462-471

    Research output: Contribution to journalArticle

  24. Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.

    Maureen D Mayes, Lara Bossini-Castillo, Olga Gorlova, José Ezequiel Martin, Xiaodong Zhou, Wei V Chen, Shervin Assassi, Jun Ying, Filemon K Tan, Frank C Arnett, John D Reveille, Sandra Guerra, María Teruel, Francisco David Carmona, Peter K Gregersen, Annette T Lee, Elena López-Isac, Eguzkine Ochoa, Patricia Carreira, Carmen Pilar Simeón & 55 others, Iván Castellví, Miguel Ángel González-Gay, Alexandra Zhernakova, Leonid Padyukov, Marta Alarcón-Riquelme, Cisca Wijmenga, Matthew Brown, Lorenzo Beretta, Gabriela Riemekasten, Torsten Witte, Nicolas Hunzelmann, Alexander Kreuter, Jörg H W Distler, Alexandre E Voskuyl, Annemie J Schuerwegh, Roger Hesselstrand, Annika Nordin, Paolo Airó, Claudio Lunardi, Paul Shiels, Jacob M van Laar, Ariane Herrick, Jane Worthington, Christopher Denton, Fredrick M Wigley, Laura K Hummers, John Varga, Monique E Hinchcliff, Murray Baron, Marie Hudson, Janet E Pope, Daniel E Furst, Dinesh Khanna, Kristin Phillips, Elena Schiopu, Barbara M Segal, Jerry A Molitor, Richard M Silver, Virginia D Steen, Robert W Simms, Robert A Lafyatis, Barri J Fessler, Tracy M Frech, Firas Alkassab, Peter Docherty, Elzbieta Kaminska, Nader Khalidi, Henry Niall Jones, Janet Markland, David Robinson, Jasper Broen, Timothy R D J Radstake, Carmen Fonseca, Bobby P Koeleman & Javier Martin, 2014, In : American Journal of Human Genetics. 94, 1, p. 47-61

    Research output: Contribution to journalArticle

  25. Meta-Analysis of Genome-Wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage.

    Daniel Woo, Guido J Falcone, William J Devan, W Mark Brown, Alessandro Biffi, Timothy D Howard, Christopher D Anderson, H Bart Brouwers, Valerie Valant, Thomas W K Battey, Farid Radmanesh, Miriam R Raffeld, Sylvia Baedorf-Kassis, Ranjan Deka, Jessica G Woo, Lisa J Martin, Mary Haverbusch, Charles J Moomaw, Guangyun Sun, Joseph P Broderick & 47 others, Matthew L Flaherty, Sharyl R Martini, Dawn O Kleindorfer, Brett Kissela, Mary E Comeau, Jeremiasz M Jagiella, Helena Schmidt, Paul Freudenberger, Alexander Pichler, Christian Enzinger, Björn Hansen, Bo Norrving, Jordi Jimenez-Conde, Eva Giralt-Steinhauer, Roberto Elosua, Elisa Cuadrado-Godia, Carolina Soriano, Jaume Roquer, Peter Kraft, Alison M Ayres, Kristin Schwab, Jacob L McCauley, Joanna Pera, Andrzej Urbanik, Natalia S Rost, Joshua N Goldstein, Anand Viswanathan, Eva-Maria Stögerer, David L Tirschwell, Magdy Selim, Devin L Brown, Scott L Silliman, Bradford B Worrall, James F Meschia, Chelsea S Kidwell, Joan Montaner, Israel Fernandez-Cadenas, Pilar Delgado, Rainer Malik, Martin Dichgans, Steven M Greenberg, Peter M Rothwell, Arne Lindgren, Agnieszka Slowik, Reinhold Schmidt, Carl D Langefeld & Jonathan Rosand, 2014, In : American Journal of Human Genetics. 94, 4, p. 511-521

    Research output: Contribution to journalArticle

  26. Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.

    Leslie A Lange, Youna Hu, He Zhang, Chenyi Xue, Ellen M Schmidt, Zheng-Zheng Tang, Chris Bizon, Ethan M Lange, Joshua D Smith, Emily H Turner, Goo Jun, Hyun Min Kang, Gina Peloso, Paul Auer, Kuo-Ping Li, Jason Flannick, Ji Zhang, Christian Fuchsberger, Kyle Gaulton, Cecilia Lindgren & 82 others, Adam Locke, Alisa Manning, Xueling Sim, Manuel A Rivas, Oddgeir L Holmen, Omri Gottesman, Yingchang Lu, Douglas Ruderfer, Eli A Stahl, Qing Duan, Yun Li, Peter Durda, Shuo Jiao, Aaron Isaacs, Albert Hofman, Joshua C Bis, Adolfo Correa, Michael E Griswold, Johanna Jakobsdottir, Albert V Smith, Pamela J Schreiner, Mary F Feitosa, Qunyuan Zhang, Jennifer E Huffman, Jacy Crosby, Christina L Wassel, Ron Do, Nora Franceschini, Lisa W Martin, Jennifer G Robinson, Themistocles L Assimes, David R Crosslin, Elisabeth A Rosenthal, Michael Tsai, Mark J Rieder, Deborah N Farlow, Aaron R Folsom, Thomas Lumley, Ervin R Fox, Christopher S Carlson, Ulrike Peters, Rebecca D Jackson, Cornelia M van Duijn, André G Uitterlinden, Daniel Levy, Jerome I Rotter, Herman A Taylor, Vilmundur Gudnason, David S Siscovick, Myriam Fornage, Ingrid B Borecki, Caroline Hayward, Igor Rudan, Y Eugene Chen, Erwin P Bottinger, Ruth J F Loos, Pål Sætrom, Kristian Hveem, Michael Boehnke, Leif Groop, Mark McCarthy, Thomas Meitinger, Christie M Ballantyne, Stacey B Gabriel, Christopher J O'Donnell, Wendy S Post, Kari E North, Alexander P Reiner, Eric Boerwinkle, Bruce M Psaty, David Altshuler, Sekar Kathiresan, Dan-Yu Lin, Gail P Jarvik, L Adrienne Cupples, Charles Kooperberg, James G Wilson, Deborah A Nickerson, Goncalo R Abecasis, Stephen S Rich, Russell P Tracy & Cristen J Willer, 2014, In : American Journal of Human Genetics. 94, 2, p. 233-245

    Research output: Contribution to journalArticle

  27. 2013
  28. Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

    Kerstin B. Meyer, Martin O'Reilly, Kyriaki Michailidou, Saskia Carlebur, Stacey L. Edwards, Juliet D. French, Radhika Prathalingham, Joe Dennis, Manjeet K. Bolla, Qin Wang, Ines de Santiago, John L. Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Laura J. Van't Veer, Frans B. Hogervorst, Kenneth Muir & 180 others, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Peter A. Fasching, Michael P. Lux, Arif B. Ekici, Matthias W. Beckmann, Julian Peto, Isabel dos Santos Silva, Olivia Fletcher, Nichola Johnson, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Federick Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Pascal Guenel, Therese Truong, Pierre Laurent-Puig, Florence Menegaux, Stig E. Bojesen, Borge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Roger L. Milne, M. Pilar Zamora, Jose I. Arias, Javier Benitez, Susan Neuhausen, Hoda Anton-Culver, Argyrios Ziogas, Christina C. Dur, Hermann Brenner, Heiko Mueller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Rita K. Schmutzler, Christoph Engel, Nina Ditsch, Hiltrud Brauch, Thomas Bruening, Yon-Dschun Ko, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomaeki, Carl Blomqvist, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Yasushi Yatabe, Thilo Doerk, Sonja Helbig, Natalia V. Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Georgia Chenevix-Trench, Anna H. Wu, Chiu-chen Tseng, David Van Den Berg, Daniel O. Stram, Diether Lambrechts, Bernard Thienpont, Marie-Rose Christiaens, Ann Smeets, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Kristen Purrington, Graham G. Giles, Gianluca Severi, Laura Baglietto, Catriona McLean, Christopher A. Haiman, Brian E. Henderson, Fredrick Schumacher, Loic Le Marchand, Jacques Simard, Mark S. Goldberg, France Labreche, Martine Dumont, Soo-Hwang Teo, Cheng-Har Yip, Sze-Yee Phuah, Vessela Kristensen, Grethe Grenaker Alnaes, Anne-Lise Borresen-Dale, Wei Zheng, Sandra Deming-Halverson, Martha Shrubsole, Jirong Long, Robert Winqvist, Katri Pylkaes, Arja Jukkola-Vuorinen, Saila Kauppila, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Sandrine Tchatchou, Peter Devilee, Robert A. E. M. Tollenaar, Caroline M. Seynaeve, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J. Chanock, Jolanta Lissowska, Kamila Czene, Hartef Darabi, Kimael Eriksson, Maartje J. Hooning, John W. M. Martens, Ans M. W. van den Ouweland, Carolien H. M. van Deurzen, Per Hall, Jingmei Li, Jianjun Liu, Keith Humphreys, Xiao-Ou Shu, Wei Lu, Yu-Tang Gao, Hui Cai, Angela Cox, Malcolm W. R. Reed, William Blot, Lisa B. Signorello, Qiuyin Cai, Paul D. P. Pharoah, Maya Ghoussaini, Patricia Harrington, Jonathan Tyrer, Daehee Kang, Ji-Yeob Choi, Sue K. Park, Dong-Young Noh, Mikael Hartman, Miao Hui, Wei-Yen Lim, Shaik A. Buhari, Ute Hamann, Asta Försti, Thomas Ruediger, Hans-Ulrich Ulmer, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Suleeporn Sangrajrang, Valerie Gaborieau, Paul Brennan, James Mckay, Celine Vachon, Susan Slager, Florentia Fostira, Robert Pilarski, Chen-Yang Shen, Chia-Ni Hsiung, Pei-Ei Wu, Ming-Feng Hou, Anthony Swerdlow, Alan Ashworth, Nick Orr, Minouk J. Schoemaker, Bruce A. J. Ponder, Alison M. Dunning & Douglas F. Easton, 2013, In : American Journal of Human Genetics. 93, 6, p. 1046-1060

    Research output: Contribution to journalArticle

  29. 2012
  30. Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

    Folkert W. Asselbergs, Yiran Guo, Erik P. A. van Iperen, Suthesh Sivapalaratnam, Vinicius Tragante, Matthew B. Lanktree, Leslie A. Lange, Berta Almoguera, Yolande E. Appelman, John Barnard, Jens Baumert, Amber L. Beitelshees, Tushar R. Bhangale, Yii-Der Ida Chen, Tom R. Gaunt, Yan Gong, Jemma C. Hopewell, Toby Johnson, Marcus E. Kleber, Taimour Y. Langaee & 150 others, Mingyao Li, Yun R. Li, Kiang Liu, Caitrin W. McDonough, Matthijs El. Meijs, Rita P. S. Middelberg, Kiran Musunuru, Christopher P. Nelson, Jeffery R. O'Connell, Sandosh Padmanabhan, James S. Pankow, Nathan Pankratz, Suzanne Rafelt, Ramakrishnan Rajagopalan, Simon P. R. Romaine, Nicholas J. Schork, Jonathan Shaffer, Haiqing Shen, Erin N. Smith, Sam E. Tischfield, Peter J. van der Most, Jana V. van Vliet-Ostaptchouk, Niek Verweij, Kelly A. Volcik, Li Zhang, Kent R. Bailey, Kristian M. Bailey, Florianne Bauer, Jolanda M. A. Boer, Peter S. Braund, Amber Burt, Paul R. Burton, Sarah G. Buxbaum, Wei Chen, Rhonda M. Cooper-DeHoff, L. Adrienne Cupples, Jonas S. deJong, Christian Delles, David Duggan, Myriam Fornage, Clement E. Furlong, Nicole Glazer, John G. Gums, Claire Hastie, Michael V. Holmes, Thomas Illig, Susan A. Kirkland, Mika Kivimaki, Ronald Klein, Barbara E. Klein, Charles Kooperberg, Kandice Kottke-Marchant, Meena Kumari, Andrea Z. LaCroix, Laya Mallela, Gurunathan Murugesan, Jose Ordovas, Willem H. Ouwehand, Wendy S. Post, Richa Saxena, Hubert Scharnagl, Pamela J. Schreiner, Tina Shah, Denis C. Shields, Daichi Shimbo, Sathanur R. Srinivasan, Ronald P. Stolk, Daniel I. Swerdlow, Herman A. Taylor Jr, Eric J. Topo, Elina Toskala, Joost L. van Pelt, Jessica van Setten, Salim Yusuf, John C. Whittaker, A. H. Zwinderman, Sonia S. Anand, Anthony J. Balmforth, Gerald S. Berenson, Connie R. Bezzina, Bernhard O. Boehm, Eric Boerwinkle, Juan P. Casas, Mark J. Caulfield, Robert Clarke, John M. Connell, Karen J. Cruickshanks, Karina W. Davidson, Ian N. M. Day, Paul I. W. de Bakker, Pieter A. Doevendans, Anna E. Dominiczak, Alistair S. Hall, Catharina A. Hartman, Christian Hengstenberg, Hans L. Hillege, Marten H. Hofker, Steve E. Humphries, Gail P. Jarvik, Julie A. Johnson, Bernhard M. Kaess, Sekar Kathiresan, Wolfgang Koenig, Debbie A. Lawlor, Winfried Maerz, Olle Melander, Braxton D. Mitchell, Grant W. Montgomery, Patricia B. Munroe, Sarah S. Murray, Stephen J. Newhouse, N. Charlotte Onland-Moret, Neil Poulter, Bruce Psaty, Susan Redline, Stephen S. Rich, Jerome I. Rotter, Heribert Schunkert, Peter Sever, Alan R. Shuldiner, Roy L. Silverstein, Alice Stanton, Barbara Thorand, Mieke D. Trip, Michael Y. Tsai, Pim van der Harst, Ellen van der Schoot, Yvonne T. van der Schouw, W. M. Monique Verschuren, Hugh Watkins, Arthur A. M. Wilde, Bruce H. R. Wolffenbuttel, John B. Whitfield, G. Kees Hovingh, Christie M. Ballantyne, Cisca Wijmenga, Muredach P. Reilly, Nicholas G. Martin, James G. Wilson, Daniel J. Rader, Nilesh J. Samani, Alex P. Reiner, Robert A. Hegele, John J. P. Kastelein, Aroon D. Hingorani, Philippa J. Talmud, Hakon Hakonarson, Clara C. Elbers, Brendan J. Keating & Fotios Drenos, 2012, In : American Journal of Human Genetics. 91, 5, p. 823-838

    Research output: Contribution to journalArticle

  31. Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

    Richa Saxena, Clara C. Elbers, Yiran Guo, Inga Peter, Tom R. Gaunt, Jessica L. Mega, Matthew B. Lanktree, Archana Tare, Berta Almoguera Castillo, Yun R. Li, Toby Johnson, Marcel Bruinenberg, Diane Gilbert-Diamond, Ramakrishnan Rajagopalan, Benjamin F. Voight, Ashok Balasubramanyam, John Barnard, Florianne Bauer, Jens Baumert, Tushar Bhangale & 135 others, Bernhard O. Boehm, Peter S. Braund, Paul R. Burton, Hareesh R. Chandrupatla, Robert Clarke, Rhonda M. Cooper-DeHoff, Errol D. Crook, George Davey-Smith, Ian N. Day, Anthonius de Boer, Mark C. H. de Groot, Fotios Drenos, Jane Ferguson, Caroline S. Fox, Clement E. Furlong, Quince Gibson, Christian Gieger, Lisa A. Gilhuijs-Pederson, Joseph T. Glessner, Anuj Goel, Yan Gong, Struan F. A. Grant, Diederick E. Grobbee, Claire Hastie, Steve E. Humphries, Cecilia E. Kim, Mika Kivimaki, Marcus Kleber, Christa Meisinger, Meena Kumari, Taimour Y. Langaee, Debbie A. Lawlor, Mingyao Li, Maximilian T. Lobmeyer, Anke-Hilse Maitland-van der Zee, Matthijs F. L. Meijs, Cliona M. Molony, David A. Morrow, Gurunathan Murugesan, Solomon K. Musani, Christopher P. Nelson, Stephen J. Newhouse, Jeffery R. O'Connell, Sandosh Padmanabhan, Jutta Palmen, Sanjey R. Patel, Carl J. Pepine, Mary Pettinger, Thomas S. Price, Suzanne Rafelt, Jane Ranchalis, Asif Rasheed, Elisabeth Rosenthal, Ingo Ruczinski, Sonia Shah, Haiqing Shen, Guenther Silbernagel, Erin N. Smith, Annemieke W. M. Spijkerman, Alice Stanton, Michael W. Steffes, Barbara Thorand, Mieke Trip, Pim van der Harst, Daphne L. van der A, Erik P. A. van Iperen, Jessica van Setten, Jana V. van Vliet-Ostaptchouk, Niek Verweij, Bruce H. R. Wolffenbuttel, Taylor Young, M. Hadi Zafarmand, Joseph M. Zmuda, Michael Boehnke, David Altshuler, Mark McCarthy, W. H. Linda Kao, James S. Pankow, Thomas P. Cappola, Peter Sever, Neil Poulter, Mark Caulfield, Anna Dominiczak, Denis C. Shields, Deepak L. Bhatt, Li Zhang, Sean P. Curtis, John Danesh, Juan P. Casas, Yvonne T. van der Schouw, N. Charlotte Onland-Moret, Pieter A. Doevendans, Gerald W. Dorn II, Martin Farrall, Garret A. FitzGerald, Anders Hamsten, Robert Hegele, Aroon D. Hingorani, Marten H. Hofker, Gordon S. Huggins, Thomas Illig, Gail P. Jarvik, Julie A. Johnson, Olaf H. Klungel, William C. Knowler, Wolfgang Koenig, Winfried Maerz, James B. Meigs, Olle Melander, Patricia B. Munroe, Braxton D. Mitchell, Susan J. Bielinski, Daniel J. Rader, Muredach P. Reilly, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Nilesh J. Samani, Eric E. Schadt, Alan R. Shuldiner, Roy Silverstein, Kandice Kottke-Marchant, Philippa J. Talmud, Hugh Watkins, Folkert W. Asselbergs, Paul I. W. de Bakker, Jeanne McCaffery, Cisca Wijmenga, Marc S. Sabatine, James G. Wilson, Alex Reiner, Donald W. Bowden, Hakon Hakonarson, David S. Siscovick & Brendan J. Keating, 2012, In : American Journal of Human Genetics. 90, 3, p. 410-425

    Research output: Contribution to journalArticle

  32. Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

    Mette Nyegaard, Michael T. Overgaard, Mads T. Sendergaard, Marta Vranas, Elijah R. Behr, Lasse L. Hildebrandt, Jacob Lund, Paula L. Hedley, A. John Camm, Göran GWE Wettrell, Inger Fosdal, Michael Christiansen & Anders D. Borglum, 2012, In : American Journal of Human Genetics. 91, 4, p. 703-712

    Research output: Contribution to journalArticle

  33. SHANK1 Deletions in Males with Autism Spectrum Disorder

    Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O'Connor, Carolyn Russell, Irene E. Drmic, Fadi F. Hamdan, Jacques L. Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Råstam, Christopher Gillberg, Mark Lathrop, Dimitri J. Stavropoulos & 11 others, Evdokia Anagnostou, Rosanna Weksberg, Eric Fombonne, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Gudrun A. Rappold, Christian R. Marshall, Thomas Bourgeron, Peter Szatmari & Stephen W. Scherer, 2012, In : American Journal of Human Genetics. 90, 5, p. 879-887

    Research output: Contribution to journalArticle

  34. 2011
  35. Blood Pressure Loci Identified with a Gene-Centric Array

    Toby Johnson, Tom R. Gaunt, Stephen J. Newhouse, Sandosh Padmanabhan, Maciej Tomaszewski, Meena Kumari, Richard W. Morris, Ioanna Tzoulaki, Eoin T. O'Brien, Neil R. Poulter, Peter Sever, Denis C. Shields, Simon Thom, Sasiwarang G. Wannamethee, Peter H. Whincup, Morris J. Brown, John M. Connell, Richard J. Dobson, Philip J. Howard, Charles A. Mein & 84 others, Abiodun Onipinla, Sue Shaw-Hawkins, Yun Zhang, George Davey Smith, Ian N. M. Day, Debbie A. Lawlor, Alison H. Goodall, F. Gerald Fowkes, Goncalo R. Abecasis, Paul Elliott, Vesela Gateva, Peter S. Braund, Paul R. Burton, Christopher P. Nelson, Martin D. Tobin, Pim van der Harst, Nicola Glorioso, Hani Neuvrith, Erika Salvi, Jan A. Staessen, Andrea Stucchi, Nabila Devos, Xavier Jeunemaitre, Pierre-Francois Plouin, Jean Tichet, Peeter Juhanson, Elin Org, Margus Putku, Siim Sober, Gudrun Veldre, Margus Viigimaa, Anna Levinsson, Annika Rosengren, Dag S. Thelle, Claire E. Hastie, Thomas Hedner, Wai K. Lee, Olle Melander, Bjoern Wahlstrand, Rebecca Hardy, Andrew Wong, Jackie A. Cooper, Jutta Palmen, Li Chen, Alexandre F. R. Stewart, George A. Wells, Harm-Jan Westra, Marcel G. M. Wolfs, Robert Clarke, Maria Grazia Franzosi, Anuj Goel, Anders Hamsten, Mark Lathrop, John F. Peden, Udo Seedorf, Hugh Watkins, Willem H. Ouwehand, Jennifer Sambrook, Jonathan Stephens, Juan-Pablo Casas, Fotios Drenos, Michael V. Holmes, Mika Kivimaki, Sonia Shah, Tina Shah, Philippa J. Talmud, John Whittaker, Chris Wallace, Christian Delles, Mans Laan, Diana Kuh, Steve E. Humphries, Fredrik Nyberg, Daniele Cusi, Robert Roberts, Christopher Newton-Cheh, Lude Franke, Alice V. Stanton, Anna F. Dominiczak, Martin Farrall, Aroon D. Hingorani, Nilesh J. Samani, Mark J. Caulfield & Patricia B. Munroe, 2011, In : American Journal of Human Genetics. 89, 6, p. 688-700

    Research output: Contribution to journalArticle

  36. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

    Matthew B. Lanktree, Yiran Guo, Muhammed Murtaza, Joseph T. Glessner, Swneke D. Bailey, N. Charlotte Onland-Moret, Guillaume Lettre, Halit Ongen, Ramakrishnan Rajagopalan, Toby Johnson, Haiqing Shen, Christopher P. Nelson, Norman Klopp, Jens Baumert, Sandosh Padmanabhan, Nathan Pankratz, James S. Pankow, Sonia Shah, Kira Taylor, John Barnard & 175 others, Bas J. Peters, Cliona M. Maloney, Maximilian T. Lobmeyer, Alice Stanton, M. Hadi Zafarmand, Simon P. R. Romaine, Amar Mehta, Erik P. A. van Iperen, Yan Gong, Tom S. Price, Erin N. Smith, Cecilia E. Kim, Yun R. Li, Folkert W. Asselbergs, Larry D. Atwood, Kristian M. Bailey, Deepak Bhatt, Florianne Bauer, Elijah R. Behr, Tushar Bhangale, Jolanda M. A. Boer, Bernhard O. Boehm, Jonathan P. Bradfield, Morris Brown, Peter S. Braund, Paul R. Burton, Cara Carty, Hareesh R. Chandrupatla, Wei Chen, John Connell, Chrysoula Dalgeorgou, Anthonius de Boer, Fotios Drenos, Clara C. Elbers, James C. Fang, Caroline S. Fox, Edward C. Frackelton, Barry Fuchs, Clement E. Furlong, Quince Gibson, Christian Gieger, Anuj Goe, Diederik E. Grobbee, Claire Hastie, Philip J. Howard, Guan-Hua Huang, W. Craig Johnson, Qing Li, Marcus E. Kleber, Barbara E. K. Klein, Ronald Klein, Charles Kooperberg, Bonnie Ky, Andrea LaCroix, Paul Lanken, Mark Lathrop, Mingyao Li, Vanessa Marshal, Olle Melander, Frank D. Mentch, Nuala J. Meyer, Keri L. Monda, Alexandre Montpetit, Gurunathan Murugesan, Karen Nakayama, Dave Nondah, Abiodun Onipinla, Suzanne Rafelt, Stephen J. Newhouse, F. George Otieno, Sanjey R. Patel, Mary E. Putt, Santiago Rodriguez, Radwan N. Safa, Douglas B. Sawyer, Pamela J. Schreiner, Claire Simpson, Suthesh Sivapalaratnam, Sathanur R. Srinivasan, Christine Suver, Gary Swergold, Nancy K. Sweitzer, Kelly A. Thomas, Barbara Thorand, Nicholas J. Timpson, Sam Tischfield, Martin Tobin, Maciej Tomaszweski, W. M. Monique Verschuren, Chris Wallace, Bernhard Winkelmann, Haitao Zhang, Dongling Zheng, Li Zhang, Joseph M. Zmuda, Robert Clarke, Anthony J. Balmforth, John Danesh, Ian N. Day, Nicholas J. Schork, Paul I. W. de Bakker, Christian Delles, David Duggan, Aroon D. Hingorani, Joel N. Hirschhorn, Marten H. Hofker, Steve E. Humphries, Mika Kivimaki, Debbie A. Lawlor, Kandice Kottke-Marchant, Jessica L. Mega, Braxton D. Mitchell, David A. Morrow, Jutta Palmen, Susan Redline, Denis C. Shields, Alan R. Shuldiner, Patrick M. Sleiman, George Davey Smith, Martin Farrall, Yalda Jamshidi, David C. Christiani, Juan P. Casas, Alistair S. Hall, Pieter A. Doevendans, Jason D. Christie, Gerald S. Berenson, Sarah S. Murray, Thomas Illig, Gerald W., II Dorn, Thomas P. Cappola, Eric Boerwinkle, Peter Sever, Daniel J. Rader, Muredach P. Reilly, Mark Caulfield, Philippa J. Talmud, Eric Topol, James C. Engert, Kai Wang, Anna Dominiczak, Anders Hamsten, Sean P. Curtis, Roy L. Silverstein, Leslie A. Lange, Marc S. Sabatine, Mieke Trip, Danish Saleheen, John F. Peden, Karen J. Cruickshanks, Winfried Maerz, Jeffrey R. O'Connell, Olaf H. Klungel, Cisca Wijmenga, Anke Hilse Maitland-van der Zee, Eric E. Schadt, Julie A. Johnson, Gail P. Jarvik, George J. Papanicolaou, Hugh Watkins, Struan F. A. Grant, Patricia B. Munroe, Kari E. North, Nilesh J. Samani, Wolfgang Koenig, Tom R. Gaunt, Sonia S. Anand, Yvonne T. van der Schouw, Meena Kumari, Nicole Soranzo, Garret A. FitzGerald, Alex Reiner, Robert A. Hegele, Hakon Hakonarson & Brendan J. Keating, 2011, In : American Journal of Human Genetics. 88, 1, p. 41443

    Research output: Contribution to journalArticle

  37. VPS35 Mutations in Parkinson Disease

    Carles Vilarino-Gueell, Christian Wider, Owen A. Ross, Justus C. Dachsel, Jennifer M. Kachergus, Sarah J. Lincoln, Alexandra I. Soto-Ortolaza, Stephanie A. Cobb, Greggory J. Wilhoite, Justin A. Bacon, Bahareh Behrouz, Heather L. Melrose, Emna Hentati, Andreas Puschmann, Daniel M. Evans, Elizabeth Conibear, Wyeth W. Wasserman, Jan O. Aasly, Pierre R. Burkhard, Ruth Djaldetti & 13 others, Joseph Ghika, Faycal Hentati, Anna Krygowska-Wajs, Tim Lynch, Eldad Melamed, Alex Rajput, Ali H. Rajput, Alessandra Solida, Ruey-Meei Wu, Ryan J. Uitti, Zbigniew K. Wszolek, Francois Vingerhoets & Matthew J. Farrer, 2011, In : American Journal of Human Genetics. 89, 1, p. 162-167

    Research output: Contribution to journalArticle

  38. 2010
  39. A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

    Eva-Lena Stattin, Fredrik Wiklund, Karin Lindblom, Patrik Önnerfjord, Bjorn-Anders Jonsson, Yelverton Tegner, Takako Sasaki, André Struglics, Stefan Lohmander, Niklas Dahl, Dick Heinegård & Anders Aspberg, 2010, In : American Journal of Human Genetics. 86, 2, p. 126-137

    Research output: Contribution to journalArticle

  40. 2009
  41. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

    Robert Steinfeld, Marcel Grapp, Ralph Kraetzner, Steffi Dreha-Kulaczewski, Gunther Helms, Peter Dechent, Ron Wevers, Salvatore Grosso & Jutta Gaertner, 2009, In : American Journal of Human Genetics. 85, 3, p. 354-363

    Research output: Contribution to journalArticle

  42. Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

    Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever & 16 others, Alice Stanton, Denis C. Shields, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries & Aroon D. Hingorani, 2009, In : American Journal of Human Genetics. 85, 5, p. 628-642

    Research output: Contribution to journalArticle

  43. Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

    James S. Friedman, Joseph W. Ray, Naushin Waseem, Kory Johnson, Matthew J. Brooks, Therése Hugosson, Debra Breuer, Kari E. Branham, Daniel S. Krauth, Sara J. Bowne, Lori S. Sullivan, Vesna Ponjavic, Lotta Gränse, Ritu Khanna, Edward H. Trager, Linn M. Gieser, Dianna Hughbanks-Wheaton, Radu I. Cojocaru, Noor M. Ghiasvand, Christina F. Chakarova & 11 others, Magnus Abrahamson, Harald H. H. Goering, Andrew R. Webster, David G. Birch, Goncalo R. Abecasis, Yang Fann, Shomi S. Bhattacharya, Stephen P. Daiger, John R. Heckenlively, Sten Andréasson & Anand Swaroop, 2009, In : American Journal of Human Genetics. 84, 6, p. 792-800

    Research output: Contribution to journalArticle

  44. 2008
  45. Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

    Nabil Sabri Enattah, Tine G. K. Jensen, Mette Nielsen, Rikke Lewinski, Mikko Kuokkanen, Heli Rasinpera, Hatem El-Shanti, Jeong Kee Seo, Michael Alifrangis, Insaf F. Khalil, Abdrazak Natah, Ahmed Ali, Sirajedin Natah, David Comas, S. Qasim Mehdi, Leif Groop, Else Marie Vestergaard, Faiqa Imtiaz, Mohamed S. Rashed, Brian Meyer & 2 others, Jesper Troelsen & Leena Peltonen, 2008, In : American Journal of Human Genetics. 82, 1, p. 57-72

    Research output: Contribution to journalArticle

  46. 2007
  47. Associating mitochondrial DNA variation with complex traits - Reply to Elson et al.

    Richa Saxena, Paul I. W. de Bakker, Leif Groop, Mark J. Daly & David Altshuler, 2007, In : American Journal of Human Genetics. 80, 2, p. 382-383

    Research output: Contribution to journalLetter

  48. Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

    Nabil Sabri Enattah, Aimee Trudeau, Ville Pimenoff, Luigi Maiuri, Salvatore Auricchio, Luigi Greco, Mauro Rossi, Michael Lentze, J. K. Seo, Soheila Rahgozar, Insaf Khalil, Michael Alifrangis, Sirajedin Natah, Leif Groop, Nael Shaat, Andrew Kozlov, Galina Verschubskaya, David Comas, Kazima Bulayeva, S. Qasim Mehdi & 7 others, Joseph D. Terwilliger, Timo Sahi, Erkki Savilahti, Markus Perola, Antti Sajantila, Irma Jaervelae & Leena Peltonen, 2007, In : American Journal of Human Genetics. 81, 3, p. 615-625

    Research output: Contribution to journalArticle

  49. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

    Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent R. Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George H. Thomas, Åke Borg, David Valle, Lisa A. Schimmenti & Scott B. Selleck, 2007, In : American Journal of Human Genetics. 80, 5, p. 938-947

    Research output: Contribution to journalArticle

  50. 2006
  51. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

    R Saxena, PIW de Bakker, K Singer, V Mootha, N Burtt, JN Hirschhorn, D Gaudet, B Isomaa, MJ Daly, Leif Groop, KG Ardlie & D Altshuler, 2006, In : American Journal of Human Genetics. 79, 1, p. 54-61

    Research output: Contribution to journalArticle

  52. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.

    J C Roach, K Deutsch, S Li, A F Siegel, L M Bekris, D C Einhaus, M Janer, C M Sheridan, G Glusman, Åke Lernmark, L Hood, Diabetes Incidence in Sweden Study Group. & Swedish Childhood Diabetes Study Group, 2006, In : American Journal of Human Genetics. 79, 4, p. 614-627

    Research output: Contribution to journalArticle

  53. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

    James S. Friedman, Bo Chang, Chitra Kannabiran, Christina Chakarova, Hardeep P. Singh, Subhadra Jalali, Norman L. Hawes, Kari Branham, Mohammad Othman, Elena Filippova, Debra A. Thompson, Andrew R. Webster, Sten Andréasson, Samuel G. Jacobson, Shomi S. Bhattacharya, John R. Heckenlively & Anand Swaroop, 2006, In : American Journal of Human Genetics. 79, 6, p. 1059-1070

    Research output: Contribution to journalArticle

  54. 2005
  55. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus

    S Sigurdsson, G Nordmark, HHH Goring, K Lindroos, AC Wiman, Gunnar Sturfelt, Andreas Jönsen, S Rantapaa-Dahlqvist, B Moller, J Kere, S Koskenmies, E Widen, ML Eloranta, H Julkunen, H Kristjansdottir, K Steinsson, G Alm, L Ronnblom & AC Syvanen, 2005, In : American Journal of Human Genetics. 76, 3, p. 528-537

    Research output: Contribution to journalArticle

  56. 2004
  57. Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik

    Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom De Koning, Kurt Von Figura, Ludwig Lehle & Christian Körner, 2004 Jan 1, In : American Journal of Human Genetics. 74, 3, p. 472-481 10 p.

    Research output: Contribution to journalArticle

  58. The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats.

    Aikaterini Barbouti, Pawel Stankiewicz, Chad Nusbaum, Christina Cuomo, April Cook, Mattias Höglund, Bertil Johansson, Anne Hagemeijer, Sung-Sup Park, Felix Mitelman, James R Lupski & Thoas Fioretos, 2004, In : American Journal of Human Genetics. 74, 1, p. 1-10

    Research output: Contribution to journalArticle

  59. 2003
  60. A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1

    C. Storlazzi, L. Anelli, F. Albano, A. Zagaria, M. Ventura, M. Rocchi, Ioannis Panagopoulos, A. Pannunzio, E. Ottaviani, V. Liso & G. Specchia, 2003, In : American Journal of Human Genetics. 73, 5, p. 223

    Research output: Contribution to journalPublished meeting abstract

  61. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies

    A Antoniou, PDP Pharoah, S Narod, HA Risch, JE Eyfjord, JL Hopper, Niklas Loman, H Olsson, O Johannsson, Åke Borg, B Pasini, P Radice, S Manoukian, DM Eccles, N Tang, E Olah, H Anton-Culver, E Warner, J Lubinski, J Gronwald & 13 others, B Gorski, H Tulinius, S Thorlacius, H Eerola, H Nevanlinna, K Syrjakoski, OP Kallioniemi, D Thompson, C Evans, J Peto, F Lalloo, DG Evans & DF Easton, 2003, In : American Journal of Human Genetics. 72, 5, p. 1117-1130

    Research output: Contribution to journalArticle

  62. Localization of a novel melanoma susceptibility locus to 1p22

    E Gillanders, SHH Juo, EA Holland, M Jones, D Nancarrow, D Freas-Lutz, R Sood, N Park, M Faruque, Christopher Markey, RF Kefford, J Palmer, W Bergman, DT Bishop, MA Tucker, B Bressac-de Paillerets, J Hansson, M Stark, N Gruis, JN Bishop & 5 others, AM Goldstein, JE Bailey-Wilson, GJ Mann, N Hayward & J Trent, 2003, In : American Journal of Human Genetics. 73, 2, p. 301-313

    Research output: Contribution to journalArticle

  63. 2002
  64. A variation in 3 ' UTR of hPTP1B increases specific gene expression and associates with insulin resistance

    R Di Paola, L Frittitta, G Miscio, M Bozzali, R Baratta, M Centra, D Spampinato, MG Santagati, T Ercolino, C Cisternino, T Soccio, S Mastroianno, V Tassi, Peter Almgren, A Pizzuti, R Vigneri & V Trischitta, 2002, In : American Journal of Human Genetics. 70, 3, p. 806-812

    Research output: Contribution to journalArticle

  65. Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.

    C M Lindgren, M M Mahtani, E Widén, M I McCarthy, M J Daly, A Kirby, M P Reeve, L Kruglyak, A Parker, J Meyer, Peter Almgren, M Lehto, T Kanninen, Tiinamaija Tuomi, Leif Groop & E S Lander, 2002, In : American Journal of Human Genetics. 70, 2, p. 509-516

    Research output: Contribution to journalArticle

  66. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

    Ilona Visapaa, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L Hutton, Vijay Kumar, Gregory S Payne, Marja Makarow, Rudy Van Coster, Robert W Taylor, Douglass M Turnbull, Anu Suomalainen & Leena Peltonen, 2002, In : American Journal of Human Genetics. 71, 4, p. 863-876

    Research output: Contribution to journalArticle

  67. 2001
  68. Somatic mosaicism in hemophilia A: A fairly common event

    M. Leuer, J.-M. Lavergne, A. Fregin, A. Eigel, R. Ljung & K. Olek, 2001 Dec 29, In : American Journal of Human Genetics. 69, 1, p. 75-87 13 p.

    Research output: Contribution to journalArticle

  69. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation

    F Zhao, C G Weismann, M Satoda, M E Pierpont, E Sweeney, E M Thompson & B D Gelb, 2001 Oct, In : American Journal of Human Genetics. 69, 4, p. 695-703 9 p.

    Research output: Contribution to journalArticle

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