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The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. by Loukas Moutsianas, Vineeta Agarwala, Christian Fuchsberger, Jason Flannick, Manuel A Rivas, Kyle J Gaulton, Patrick K Albers, GoT2D Consortium, Gil McVean, Michael Boehnke, David Altshuler, Mark I McCarthy
Published 2015-04-01
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Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis. by Miriam S Udler, Jaegil Kim, Marcin von Grotthuss, Sílvia Bonàs-Guarch, Joanne B Cole, Joshua Chiou, Christopher D. Anderson on behalf of METASTROKE and the ISGC, Michael Boehnke, Markku Laakso, Gil Atzmon, Benjamin Glaser, Josep M Mercader, Kyle Gaulton, Jason Flannick, Gad Getz, Jose C Florez
Published 2018-09-01
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Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs by Seong Kyu Han, Michelle T. McNulty, Christopher J. Benway, Pei Wen, Anya Greenberg, Ana C. Onuchic-Whitford, Nephrotic Syndrome Study Network (NEPTUNE), Dongkeun Jang, Jason Flannick, Noël P. Burtt, Parker C. Wilson, Benjamin D. Humphreys, Xiaoquan Wen, Zhe Han, Dongwon Lee, Matthew G. Sampson
Published 2023-04-01
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Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity by Aimee M. Deaton, Aditi Dubey, Lucas D. Ward, Peter Dornbos, Jason Flannick, AMP-T2D-GENES Consortium, Elaine Yee, Simina Ticau, Leila Noetzli, Margaret M. Parker, Rachel A. Hoffing, Carissa Willis, Mollie E. Plekan, Aaron M. Holleman, Gregory Hinkle, Kevin Fitzgerald, Akshay K. Vaishnaw, Paul Nioi
Published 2022-07-01
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Discovering metabolic disease gene interactions by correlated effects on cellular morphology by Yang Jiao, Umer Ahmed, M.F. Michelle Sim, Andrea Bejar, Xiaolan Zhang, M. Mesbah Uddin Talukder, Robert Rice, Jason Flannick, Anna I. Podgornaia, Dermot F. Reilly, Jesse M. Engreitz, Maria Kost-Alimova, Kate Hartland, Josep-Maria Mercader, Sara Georges, Vilas Wagh, Marija Tadin-Strapps, John G. Doench, J. Michael Edwardson, Justin J. Rochford, Evan D. Rosen, Amit R. Majithia
Published 2019-06-01
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Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans by Shiqi Zhong, Raphael Chèvre, David Castaño Mayan, Maria Corlianò, Blake J. Cochran, Kai Ping Sem, Theo H. van Dijk, Jianhe Peng, Liang Juin Tan, Siddesh V. Hartimath, Boominathan Ramasamy, Peter Cheng, Albert K. Groen, Folkert Kuipers, Julian L. Goggi, Chester Drum, Rob M. van Dam, Ru San Tan, Kerry-Anne Rye, Michael R. Hayden, Ching-Yu Cheng, Shaji Chacko, Jason Flannick, Xueling Sim, Hong Chang Tan, Roshni R. Singaraja
Published 2022-11-01
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Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder by Hyun Ji Noh, Ruqi Tang, Jason Flannick, Colm O’Dushlaine, Ross Swofford, Daniel Howrigan, Diane P. Genereux, Jeremy Johnson, Gerard van Grootheest, Edna Grünblatt, Erik Andersson, Diana R. Djurfeldt, Paresh D. Patel, Michele Koltookian, Christina M. Hultman, Michele T. Pato, Carlos N. Pato, Steven A. Rasmussen, Michael A. Jenike, Gregory L. Hanna, S. Evelyn Stewart, James A. Knowles, Stephan Ruhrmann, Hans-Jörgen Grabe, Michael Wagner, Christian Rück, Carol A. Mathews, Susanne Walitza, Daniëlle C. Cath, Guoping Feng, Elinor K. Karlsson, Kerstin Lindblad-Toh
Published 2017-10-01
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Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes by Sílvia Bonàs-Guarch, Marta Guindo-Martínez, Irene Miguel-Escalada, Niels Grarup, David Sebastian, Elias Rodriguez-Fos, Friman Sánchez, Mercè Planas-Fèlix, Paula Cortes-Sánchez, Santi González, Pascal Timshel, Tune H. Pers, Claire C. Morgan, Ignasi Moran, Goutham Atla, Juan R. González, Montserrat Puiggros, Jonathan Martí, Ehm A. Andersson, Carlos Díaz, Rosa M. Badia, Miriam Udler, Aaron Leong, Varindepal Kaur, Jason Flannick, Torben Jørgensen, Allan Linneberg, Marit E. Jørgensen, Daniel R. Witte, Cramer Christensen, Ivan Brandslund, Emil V. Appel, Robert A. Scott, Jian’an Luan, Claudia Langenberg, Nicholas J. Wareham, Oluf Pedersen, Antonio Zorzano, Jose C Florez, Torben Hansen, Jorge Ferrer, Josep Maria Mercader, David Torrents
Published 2018-05-01
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Distribution and medical impact of loss-of-function variants in the Finnish founder population. by Elaine T Lim, Peter Würtz, Aki S Havulinna, Priit Palta, Taru Tukiainen, Karola Rehnström, Tõnu Esko, Reedik Mägi, Michael Inouye, Tuuli Lappalainen, Yingleong Chan, Rany M Salem, Monkol Lek, Jason Flannick, Xueling Sim, Alisa Manning, Claes Ladenvall, Suzannah Bumpstead, Eija Hämäläinen, Kristiina Aalto, Mikael Maksimow, Marko Salmi, Stefan Blankenberg, Diego Ardissino, Svati Shah, Benjamin Horne, Ruth McPherson, Gerald K Hovingh, Muredach P Reilly, Hugh Watkins, Anuj Goel, Martin Farrall, Domenico Girelli, Alex P Reiner, Nathan O Stitziel, Sekar Kathiresan, Stacey Gabriel, Jeffrey C Barrett, Terho Lehtimäki, Markku Laakso, Leif Groop, Jaakko Kaprio, Markus Perola, Mark I McCarthy, Michael Boehnke, David M Altshuler, Cecilia M Lindgren, Joel N Hirschhorn, Andres Metspalu, Nelson B Freimer, Tanja Zeller, Sirpa Jalkanen, Seppo Koskinen, Olli Raitakari, Richard Durbin, Daniel G MacArthur, Veikko Salomaa, Samuli Ripatti, Mark J Daly, Aarno Palotie, Sequencing Initiative Suomi (SISu) Project
Published 2014-07-01
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Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes by Minako Imamura, Atsushi Takahashi, Toshimasa Yamauchi, Kazuo Hara, Kazuki Yasuda, Niels Grarup, Wei Zhao, Xu Wang, Alicia Huerta-Chagoya, Cheng Hu, Sanghoon Moon, Jirong Long, Soo Heon Kwak, Asif Rasheed, Richa Saxena, Ronald C. W. Ma, Yukinori Okada, Minoru Iwata, Jun Hosoe, Nobuhiro Shojima, Minaka Iwasaki, Hayato Fujita, Ken Suzuki, John Danesh, Torben Jørgensen, Marit E. Jørgensen, Daniel R. Witte, Ivan Brandslund, Cramer Christensen, Torben Hansen, Josep M. Mercader, Jason Flannick, Hortensia Moreno-Macías, Noël P. Burtt, Rong Zhang, Young Jin Kim, Wei Zheng, Jai Rup Singh, Claudia H. T. Tam, Hiroshi Hirose, Hiroshi Maegawa, Chikako Ito, Kohei Kaku, Hirotaka Watada, Yasushi Tanaka, Kazuyuki Tobe, Ryuzo Kawamori, Michiaki Kubo, Yoon Shin Cho, Juliana C. N. Chan, Dharambir Sanghera, Philippe Frossard, Kyong Soo Park, Xiao-Ou Shu, Bong-Jo Kim, Jose C. Florez, Teresa Tusié-Luna, Weiping Jia, E Shyong Tai, Oluf Pedersen, Danish Saleheen, Shiro Maeda, Takashi Kadowaki
Published 2016-01-01
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes by Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler
Published 2021-06-01
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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls by Jason, Flannick, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M., Agarwala, Vineeta, Gaulton, Kyle J., Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J., Rivas, Manuel A., Perry, John R. B., Sim, Xueling, Blackwell, Thomas W., Robertson, Neil R., Rayner, N William, Cingolani, Pablo, Locke, Adam E., Tajes, Juan Fernandez, Highland, Heather M., Dupuis, Josee, Chines, Peter S., Lindgren, Cecilia M., Hartl, Christopher, Jackson, Anne U., Chen, Han, Huyghe, Jeroen R., van de Bunt, Martijn, Pearson, Richard D., Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M., Gamazon, Eric R., Chen, Yuhui, Scott, Robert A., Below, Jennifer E., Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L., Pasko, Dorota, Parker, Stephen C. J., Varga, Tibor V., Green, Todd, Beer, Nicola L., Day-Williams, Aaron G., Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J., Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P., Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F., Han, Bok-Ghee, Jenkinson, Christopher P., Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie C. Y., Palmer, Nicholette D., Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E., Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D., Neale, Benjamin M., Purcell, Shaun, Butterworth, Adam S., Howson, Joanna M. M., Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, Lam, Vincent K. L., Park, Kyong Soo, Saleheen, Danish, So, Wing Yee, Tam, Claudia H. T., Afzal, Uzma, Aguilar, David, Arya, Rector, Aung, Tin, Chan, Edmund, Navarro, Carmen, Cheng, Ching-Yu, Palli, Domenico, Correa, Adolfo, Curran, Joanne E., Rybin, Dennis, Farook, Vidya S., Fowler, Sharon P., Freedman, Barry I., Griswold, Michael, Hale, Daniel Esten, Hicks, Pamela J., Khor, Chiea-Chuen, Kumar, Satish, Lehne, Benjamin, Thuillier, Dorothée, Lim, Wei Yen, Liu, Jianjun, Loh, Marie, Musani, Solomon K., Puppala, Sobha, Scott, William R., Yengo, Loïc, Tan, Sian-Tsung, Taylor, Herman A., Thameem, Farook, Wilson, Gregory, Wong, Tien Yin, Njølstad, Pål Rasmus, Levy, Jonathan C., Mangino, Massimo, Bonnycastle, Lori L., Schwarzmayr, Thomas, Fadista, João, Surdulescu, Gabriela L., Herder, Christian, Groves, Christopher J., Wieland, Thomas, Bork-Jensen, Jette, Brandslund, Ivan, Christensen, Cramer, Koistinen, Heikki A., Doney, Alex S. F., Kinnunen, Leena, Esko, Tõnu, Farmer, Andrew J., Hakaste, Liisa, Hodgkiss, Dylan, Kravic, Jasmina, Lyssenko, Valeri, Hollensted, Mette, Jørgensen, Marit E., Jørgensen, Torben, Ladenvall, Claes, Justesen, Johanne Marie, Käräjämäki, Annemari, Kriebel, Jennifer, Rathmann, Wolfgang, Lannfelt, Lars, Lauritzen, Torsten, Narisu, Narisu, Linneberg, Allan, Melander, Olle, Milani, Lili, Neville, Matt, Orho-Melander, Marju, Qi, Lu, Qi, Qibin, Roden, Michael, Rolandsson, Olov, Altshuler, David, Lee, Jaehoon, Ph. D. Massachusetts Institute of Technology
Published 2018
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