Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

par Jedidiah Carlson, Adam E. Locke, Matthew Flickinger, Matthew Zawistowski, Shawn Levy, Richard M. Myers, Michael Boehnke, Hyun Min Kang, Laura J. Scott, Jun Z. Li, Sebastian Zöllner, The BRIDGES Consortium
Publié 2018

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

par Sarah E. Graham, Jonas B. Nielsen, Matthew Zawistowski, Wei Zhou, Lars G. Fritsche, Maiken E. Gabrielsen, Anne Heidi Skogholt, Ida Surakka, Whitney E. Hornsby, Damian Fermin, Daniel B. Larach, Sachin Kheterpal, Chad M. Brummett, Seunggeun Lee, Hyun Min Kang, Goncalo R. Abecasis, Solfrid Romundstad, Stein Hallan, Matthew G. Sampson, Kristian Hveem, Cristen J. Willer
Publié 2019

Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction

par Jacqueline Saw, Min-Lee Yang, Mark Trinder, Catherine Tcheandjieu, Chang Xu, Andrew Starovoytov, Isabelle Birt, Michael R. Mathis, Kristina L. Hunker, Ellen M. Schmidt, Linda Jackson, Natalia Fendrikova-Mahlay, Matthew Zawistowski, Chad M. Brummett, Sebastian Zoellner, Alexander Katz, Dawn M. Coleman, Kirby Swan, Christopher J. O’Donnell, Million Veteran Program, Xiang Zhou, Jun Z. Li, Heather L. Gornik, Themistocles L. Assimes, James C. Stanley, Liam R. Brunham, Santhi K. Ganesh
Publié 2020

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

par Lam C. Tsoi, Philip E. Stuart, Chao Tian, Johann E. Gudjonsson, Sayantan Das, Matthew Zawistowski, Eva Ellinghaus, Jonathan N. Barker, Vinod Chandran, Nick Dand, Kristina Callis Duffin, Charlotta Enerbäck, Tõnu Esko, Andre Franke, Dafna D. Gladman, Per Hoffmann, Külli Kingo, Sulev Kõks, Gerald G. Krueger, Henry W. Lim, Andres Metspalu, Ulrich Mrowietz, Sören Mucha, Proton Rahman, Andre Reis, Trilokraj Tejasvi, Richard Trembath, John J. Voorhees, Stephan Weidinger, Michael Weichenthal, Xiaoquan Wen, Nicholas Eriksson, Hyun M. Kang, David A. Hinds, Rajan P. Nair, Gonçalo R. Abecasis, James T Elder
Publié 2017

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

par Wei Zhou, Ben Brumpton, Omer Kabil, Julius Gudmundsson, Gudmar Thorleifsson, Josh Weinstock, Matthew Zawistowski, Jonas B. Nielsen, Layal Chaker, Marco Medici, Alexander Teumer, Silvia Naitza, Serena Sanna, Ulla T. Schultheiss, Anne Cappola, Juha Karjalainen, Mitja Kurki, Morgan Oneka, Peter Taylor, Lars G. Fritsche, Sarah E. Graham, Brooke N. Wolford, William Overton, Humaira Rasheed, Eirin B. Haug, Maiken E. Gabrielsen, Anne Heidi Skogholt, Ida Surakka, George Davey Smith, Anita Pandit, Tanmoy Roychowdhury, Whitney E. Hornsby, Jon G. Jonasson, Leigha Senter, Sandya Liyanarachchi, Matthew D. Ringel, Li Xu, Lambertus A. Kiemeney, Huiling He, Romana T. Netea-Maier, Jose I. Mayordomo, Theo S. Plantinga, Jon Hrafnkelsson, Hannes Hjartarson, Erich M. Sturgis, Aarno Palotie, Mark Daly, Cintia E. Citterio, Peter Arvan, Chad M. Brummett, Michael Boehnke, Albert de la Chapelle, Kari Stefansson, Kristian Hveem, Cristen J. Willer, Bjørn Olav Åsvold
Publié 2020

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

par Jonas B. Nielsen, Oren Rom, Ida Surakka, Sarah E. Graham, Wei Zhou, Tanmoy Roychowdhury, Lars G. Fritsche, Sarah A. Gagliano Taliun, Carlo Sidore, Yuhao Liu, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, William Overton, Ying Zhao, Jin Chen, He Zhang, Whitney E. Hornsby, Akua Acheampong, Austen Grooms, Amanda Schaefer, Gregory J. M. Zajac, Luis Villacorta, Jifeng Zhang, Ben Brumpton, Mari Løset, Vivek Rai, Pia R. Lundegaard, Morten S. Olesen, Kent D. Taylor, Nicholette D. Palmer, Yii-Der Chen, Seung H. Choi, Steven A. Lubitz, Patrick T. Ellinor, Kathleen C. Barnes, Michelle Daya, Nicholas Rafaels, Scott T. Weiss, Jessica Lasky-Su, Russell P. Tracy, Ramachandran S. Vasan, L. Adrienne Cupples, Rasika A. Mathias, Lisa R. Yanek, Lewis C. Becker, Patricia A. Peyser, Lawrence F. Bielak, Jennifer A. Smith, Stella Aslibekyan, Bertha A. Hidalgo, Donna K. Arnett, Marguerite R. Irvin, James G. Wilson, Solomon K. Musani, Adolfo Correa, Stephen S. Rich, Xiuqing Guo, Jerome I. Rotter, Barbara A. Konkle, Jill M. Johnsen, Allison E. Ashley-Koch, Marilyn J. Telen, Vivien A. Sheehan, John Blangero, Joanne E. Curran, Juan M. Peralta, Courtney Montgomery, Wayne H-H Sheu, Ren-Hua Chung, Karen Schwander, Seyed M. Nouraie, Victor R. Gordeuk, Yingze Zhang, Charles Kooperberg, Alexander P. Reiner, Rebecca D. Jackson, Eugene R. Bleecker, Deborah A. Meyers, Xingnan Li, Sayantan Das, Ketian Yu, Jonathon LeFaive, Albert Smith, Tom Blackwell, Daniel Taliun, Sebastian Zollner, Lukas Forer, Sebastian Schoenherr, Christian Fuchsberger, Anita Pandit, Matthew Zawistowski, Sachin Kheterpal, Chad M. Brummett, Pradeep Natarajan, David Schlessinger, Seunggeun Lee, Hyun Min Kang, Francesco Cucca, Oddgeir L. Holmen, Bjørn O. Åsvold, Michael Boehnke, Sekar Kathiresan, Goncalo R. Abecasis, Y. Eugene Chen, Cristen J. Willer, Kristian Hveem
Publié 2020