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

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

Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort

por König, Eva, Rainer, Johannes, Hernandes, Vinicius Verri, Paglia, Giuseppe, Del Greco M., Fabiola, Bottigliengo, Daniele, Yin, Xianyong, Chan, Lap Sum, Teumer, Alexander, Pramstaller, Peter P., Locke, Adam E., Fuchsberger, Christian
Publicado 2022

Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects

por Ramachandran, Dhanya, Mulle, Jennifer G., Locke, Adam E., Bean, Lora J.H., Rosser, Tracie C., Bose, Promita, Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Sherman, Stephanie L., Zwick, Michael E.
Publicado 2014

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects

por Ramachandran, Dhanya, Zeng, Zhen, Locke, Adam E., Mulle, Jennifer G., Bean, Lora J.H., Rosser, Tracie C., Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Feingold, Eleanor, Sherman, Stephanie L., Zwick, Michael E.
Publicado 2015

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study

por Davis, James P., Huyghe, Jeroen R., Locke, Adam E., Jackson, Anne U., Sim, Xueling, Stringham, Heather M., Teslovich, Tanya M., Welch, Ryan P., Fuchsberger, Christian, Narisu, Narisu, Chines, Peter S., Kangas, Antti J., Soininen, Pasi, Ala-Korpela, Mika, Kuusisto, Johanna, Collins, Francis S., Laakso, Markku, Boehnke, Michael, Mohlke, Karen L.
Publicado 2017

Across-cohort QC analyses of GWAS summary statistics from complex traits

por Chen, Guo-Bo, Lee, Sang Hong, Robinson, Matthew R, Trzaskowski, Maciej, Zhu, Zhi-Xiang, Winkler, Thomas W, Day, Felix R, Croteau-Chonka, Damien C, Wood, Andrew R, Locke, Adam E, Kutalik, Zoltán, Loos, Ruth J F, Frayling, Timothy M, Hirschhorn, Joel N, Yang, Jian, Wray, Naomi R, Visscher, Peter M
Publicado 2017

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences

por Spracklen, Cassandra N., Iyengar, Apoorva K., Vadlamudi, Swarooparani, Raulerson, Chelsea K., Jackson, Anne U., Brotman, Sarah M., Wu, Ying, Cannon, Maren E., Davis, James P., Crain, Aaron T., Currin, Kevin W., Perrin, Hannah J., Narisu, Narisu, Stringham, Heather M., Fuchsberger, Christian, Locke, Adam E., Welch, Ryan P., Kuusisto, Johanna K., Pajukanta, Päivi, Scott, Laura J., Li, Yun, Collins, Francis S., Boehnke, Michael, Laakso, Markku, Mohlke, Karen L.
Publicado 2020

Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk

por Yin, Xianyong, Bose, Debraj, Kwon, Annie, Hanks, Sarah C., Jackson, Anne U., Stringham, Heather M., Welch, Ryan, Oravilahti, Anniina, Fernandes Silva, Lilian, Locke, Adam E., Fuchsberger, Christian, Service, Susan K., Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Morrison, Jean, Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Collins, Francis S., Mohlke, Karen L., Scott, Laura J., Fauman, Eric B., Burant, Charles, Boehnke, Michael, Laakso, Markku, Wen, Xiaoquan
Publicado 2022

Interaction between the FTO gene, body mass index and depression: meta-analysis of 13701 individuals()

por Rivera, Margarita, Locke, Adam E., Corre, Tanguy, Czamara, Darina, Wolf, Christiane, Ching-Lopez, Ana, Milaneschi, Yuri, Kloiber, Stefan, Cohen-Woods, Sara, Rucker, James, Aitchison, Katherine J., Bergmann, Sven, Boomsma, Dorret I., Craddock, Nick, Gill, Michael, Holsboer, Florian, Hottenga, Jouke-Jan, Korszun, Ania, Kutalik, Zoltan, Lucae, Susanne, Maier, Wolfgang, Mors, Ole, Müller-Myhsok, Bertram, Owen, Michael J., Penninx, Brenda W. J. H., Preisig, Martin, Rice, John, Rietschel, Marcella, Tozzi, Federica, Uher, Rudolf, Vollenweider, Peter, Waeber, Gerard, Willemsen, Gonneke, Craig, Ian W., Farmer, Anne E., Lewis, Cathryn M., Breen, Gerome, McGuffin, Peter
Publicado 2017

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

por Yin, Xianyong, Chan, Lap Sum, Bose, Debraj, Jackson, Anne U., VandeHaar, Peter, Locke, Adam E., Fuchsberger, Christian, Stringham, Heather M., Welch, Ryan, Yu, Ketian, Fernandes Silva, Lilian, Service, Susan K., Zhang, Daiwei, Hector, Emily C., Young, Erica, Ganel, Liron, Das, Indraniel, Abel, Haley, Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Wagner, Gregory R., Kang, Jian, Morrison, Jean, Burant, Charles F., Collins, Francis S., Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Mohlke, Karen L., Scott, Laura J., Wen, Xiaoquan, Fauman, Eric B., Laakso, Markku, Boehnke, Michael
Publicado 2022

Exome sequencing and analysis of 454,787 UK Biobank participants

por Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Publicado 2021

Exome sequencing of Finnish isolates enhances rare-variant association power

por Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston WK, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K, Stitziel, Nathan O, Wilson, Richard K, Hall, Ira M, Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B
Publicado 2019

Common and rare variant associations with clonal haematopoiesis phenotypes

por Kessler, Michael D., Damask, Amy, O’Keeffe, Sean, Banerjee, Nilanjana, Li, Dadong, Watanabe, Kyoko, Marketta, Anthony, Van Meter, Michael, Semrau, Stefan, Horowitz, Julie, Tang, Jing, Kosmicki, Jack A., Rajagopal, Veera M., Zou, Yuxin, Houvras, Yariv, Ghosh, Arkopravo, Gillies, Christopher, Mbatchou, Joelle, White, Ryan R., Verweij, Niek, Bovijn, Jonas, Parikshak, Neelroop N., LeBlanc, Michelle G., Jones, Marcus, Glass, David J., Lotta, Luca A., Cantor, Michael N., Atwal, Gurinder S., Locke, Adam E., Ferreira, Manuel A. R., Deering, Raquel, Paulding, Charles, Shuldiner, Alan R., Thurston, Gavin, Ferrando, Adolfo A., Salerno, Will, Reid, Jeffrey G., Overton, John D., Marchini, Jonathan, Kang, Hyun M., Baras, Aris, Abecasis, Gonçalo R., Jorgenson, Eric
Publicado 2022

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

por Horikoshi, Momoko, Pasquali, Lorenzo, Wiltshire, Steven, Huyghe, Jeroen R., Mahajan, Anubha, Asimit, Jennifer L., Ferreira, Teresa, Locke, Adam E., Robertson, Neil R., Wang, Xu, Sim, Xueling, Fujita, Hayato, Hara, Kazuo, Young, Robin, Zhang, Weihua, Choi, Sungkyoung, Chen, Han, Kaur, Ismeet, Takeuchi, Fumihiko, Fontanillas, Pierre, Thuillier, Dorothée, Yengo, Loic, Below, Jennifer E., Tam, Claudia H.T., Wu, Ying, Abecasis, Gonçalo, Altshuler, David, Bell, Graeme I., Blangero, John, Burtt, Noél P., Duggirala, Ravindranath, Florez, Jose C., Hanis, Craig L., Seielstad, Mark, Atzmon, Gil, Chan, Juliana C.N., Ma, Ronald C.W., Froguel, Philippe, Wilson, James G., Bharadwaj, Dwaipayan, Dupuis, Josee, Meigs, James B., Cho, Yoon Shin, Park, Taesung, Kooner, Jaspal S., Chambers, John C., Saleheen, Danish, Kadowaki, Takashi, Tai, E. Shyong, Mohlke, Karen L., Cox, Nancy J., Ferrer, Jorge, Zeggini, Eleftheria, Kato, Norihiro, Teo, Yik Ying, Boehnke, Michael, McCarthy, Mark I., Morris, Andrew P.
Publicado 2016

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

por Akbari, Parsa, Sosina, Olukayode A., Bovijn, Jonas, Landheer, Karl, Nielsen, Jonas B., Kim, Minhee, Aykul, Senem, De, Tanima, Haas, Mary E., Hindy, George, Lin, Nan, Dinsmore, Ian R., Luo, Jonathan Z., Hectors, Stefanie, Geraghty, Benjamin, Germino, Mary, Panagis, Lampros, Parasoglou, Prodromos, Walls, Johnathon R., Halasz, Gabor, Atwal, Gurinder S., Jones, Marcus, LeBlanc, Michelle G., Still, Christopher D., Carey, David J., Giontella, Alice, Orho-Melander, Marju, Berumen, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M., Emberson, Jonathan R., Collins, Rory, Rader, Daniel J., Zambrowicz, Brian, Murphy, Andrew J., Balasubramanian, Suganthi, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Cantor, Michael, Abecasis, Goncalo R., Ferreira, Manuel A. R., Sleeman, Mark W., Gusarova, Viktoria, Altarejos, Judith, Harris, Charles, Economides, Aris N., Idone, Vincent, Karalis, Katia, Della Gatta, Giusy, Mirshahi, Tooraj, Yancopoulos, George D., Melander, Olle, Marchini, Jonathan, Tapia-Conyer, Roberto, Locke, Adam E., Baras, Aris, Verweij, Niek, Lotta, Luca A.
Publicado 2022

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

por Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Publicado 2022

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

por Jia, Xiaoming, Goes, Fernando S., Locke, Adam E., Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U., Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M., Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z., Levy, Shawn E., Monson, Eric T., Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M., Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A., Richard McCombie, W., McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M., O’Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B., Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F., Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A., Zandi, Peter P., Scott, Laura J.
Publicado 2021

Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

por Jia, Xiaoming, Goes, Fernando S., Locke, Adam E., Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U., Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M., Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z., Levy, Shawn E., Monson, Eric T., Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M., Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A., Richard McCombie, W., McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M., O’Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B., Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F., Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A., Zandi, Peter P., Scott, Laura J.
Publicado 2021

Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

por Kosmicki, Jack A., Horowitz, Julie E., Banerjee, Nilanjana, Lanche, Rouel, Marcketta, Anthony, Maxwell, Evan, Bai, Xiaodong, Sun, Dylan, Backman, Joshua D., Sharma, Deepika, Kury, Fabricio S.P., Kang, Hyun M., O’Dushlaine, Colm, Yadav, Ashish, Mansfield, Adam J., Li, Alexander H., Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Locke, Adam E., Khalid, Shareef, O’Keeffe, Sean, Mbatchou, Joelle, Chazara, Olympe, Huang, Yunfeng, Kvikstad, Erika, O’Neill, Amanda, Nioi, Paul, Parker, Meg M., Petrovski, Slavé, Runz, Heiko, Szustakowski, Joseph D., Wang, Quanli, Wong, Emily, Cordova-Palomera, Aldo, Smith, Erin N., Szalma, Sandor, Zheng, Xiuwen, Esmaeeli, Sahar, Davis, Justin W., Lai, Yi-Pin, Chen, Xing, Justice, Anne E., Leader, Joseph B., Mirshahi, Tooraj, Carey, David J., Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Rader, Daniel J., Povysil, Gundula, Goldstein, David B., Kiryluk, Krzysztof, Pairo-Castineira, Erola, Rawlik, Konrad, Pasko, Dorota, Walker, Susan, Meynert, Alison, Kousathanas, Athanasios, Moutsianas, Loukas, Tenesa, Albert, Caulfield, Mark, Scott, Richard, Wilson, James F., Baillie, J. Kenneth, Butler-Laporte, Guillaume, Nakanishi, Tomoko, Lathrop, Mark, Richards, J. Brent, Jones, Marcus, Balasubramanian, Suganthi, Salerno, William, Shuldiner, Alan R., Marchini, Jonathan, Overton, John D., Habegger, Lukas, Cantor, Michael N., Reid, Jeffrey G., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A.R.
Publicado 2021

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

por Mahajan, Anubha, Sim, Xueling, Ng, Hui Jin, Manning, Alisa, Rivas, Manuel A., Highland, Heather M., Locke, Adam E., Grarup, Niels, Im, Hae Kyung, Cingolani, Pablo, Flannick, Jason, Fontanillas, Pierre, Fuchsberger, Christian, Gaulton, Kyle J., Teslovich, Tanya M., Rayner, N. William, Robertson, Neil R., Beer, Nicola L., Rundle, Jana K., Bork-Jensen, Jette, Ladenvall, Claes, Blancher, Christine, Buck, David, Buck, Gemma, Burtt, Noël P., Gabriel, Stacey, Gjesing, Anette P., Groves, Christopher J., Hollensted, Mette, Huyghe, Jeroen R., Jackson, Anne U., Jun, Goo, Justesen, Johanne Marie, Mangino, Massimo, Murphy, Jacquelyn, Neville, Matt, Onofrio, Robert, Small, Kerrin S., Stringham, Heather M., Syvänen, Ann-Christine, Trakalo, Joseph, Abecasis, Goncalo, Bell, Graeme I., Blangero, John, Cox, Nancy J., Duggirala, Ravindranath, Hanis, Craig L., Seielstad, Mark, Wilson, James G., Christensen, Cramer, Brandslund, Ivan, Rauramaa, Rainer, Surdulescu, Gabriela L., Doney, Alex S. F., Lannfelt, Lars, Linneberg, Allan, Isomaa, Bo, Tuomi, Tiinamaija, Jørgensen, Marit E., Jørgensen, Torben, Kuusisto, Johanna, Uusitupa, Matti, Salomaa, Veikko, Spector, Timothy D., Morris, Andrew D., Palmer, Colin N. A., Collins, Francis S., Mohlke, Karen L., Bergman, Richard N., Ingelsson, Erik, Lind, Lars, Tuomilehto, Jaakko, Hansen, Torben, Watanabe, Richard M., Prokopenko, Inga, Dupuis, Josee, Karpe, Fredrik, Groop, Leif, Laakso, Markku, Pedersen, Oluf, Florez, Jose C., Morris, Andrew P., Altshuler, David, Meigs, James B., Boehnke, Michael, McCarthy, Mark I., Lindgren, Cecilia M., Gloyn, Anna L.
Publicado 2015