Exome sequencing and analysis of 454,787 UK Biobank participants
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
Published in Nature (London) (25.11.2021)
Published in Nature (London) (25.11.2021)
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Journal Article
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
Mahajan, Anubha, Taliun, Daniel, Thurner, Matthias, Robertson, Neil R, Torres, Jason M, Rayner, N William, Payne, Anthony J, Steinthorsdottir, Valgerdur, Grarup, Niels, Cook, James P, Schmidt, Ellen M, Wuttke, Matthias, Sarnowski, Chloé, Mägi, Reedik, Nano, Jana, Trompet, Stella, Preuss, Michael H, Prins, Bram Peter, Guo, Xiuqing, Bielak, Lawrence F, Bowden, Donald W, Chambers, John Campbell, Kim, Young Jin, Ng, Maggie C Y, Petty, Lauren E, Sim, Xueling, Zhang, Weihua, Bennett, Amanda J, Bork-Jensen, Jette, Brummett, Chad M, Canouil, Mickaël, Ec Kardt, Kai-Uwe, Fischer, Krista, Kardia, Sharon L R, Kronenberg, Florian, Läll, Kristi, Liu, Ching-Ti, Locke, Adam E, Luan, Jian'an, Nylander, Vibe, Schönherr, Sebastian, Schurmann, Claudia, Yengo, Loïc, Bottinger, Erwin P, Brandslund, Ivan, Christensen, Cramer, Dedoussis, George, Florez, Jose C, Ford, Ian, Franco, Oscar H, Frayling, Timothy M, Giedraitis, Vilmantas, Hattersley, Andrew T, Herder, Christian, Ikram, M Arfan, Ingelsson, Martin, Jørgensen, Marit E, Kriebel, Jennifer, Kuusisto, Johanna, Ligthart, Symen, Linneberg, Allan, Lyssenko, Valeriya, Meitinger, Thomas, Mohlke, Karen L, Nadkarni, Girish, Pankow, James S, Peters, Annette, Sattar, Naveed, Stančáková, Alena, Strauch, Konstantin, Taylor, Kent D, Thorand, Barbara, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tuomilehto, Jaakko, Witte, Daniel R, Dupuis, Josée, Peyser, Patricia A, Zeggini, Eleftheria, Froguel, Philippe, Lind, Lars, Groop, Leif, Laakso, Markku, Jukema, J Wouter, Grallert, Harald, Metspalu, Andres, Dehghan, Abbas, Abecasis, Goncalo R, Meigs, James B, Rotter, Jerome I, Marchini, Jonathan, Pedersen, Oluf, Hansen, Torben, Langenberg, Claudia, Wareham, Nicholas J, Stefansson, Kari, Gloyn, Anna L, Morris, Andrew P, Boehnke, Michael, McCarthy, Mark I
Published in Nature genetics (01.11.2018)
Published in Nature genetics (01.11.2018)
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Journal Article
Exome sequencing of Finnish isolates enhances rare-variant association power
Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston W K, 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
Published in Nature (London) (15.08.2019)
Published in Nature (London) (15.08.2019)
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Journal Article
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
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
Published in Nature communications (28.03.2022)
Published in Nature communications (28.03.2022)
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Journal Article
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
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
Published in Nature communications (14.09.2018)
Published in Nature communications (14.09.2018)
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Journal Article
Heterozygous variants of CLPB are a cause of severe congenital neutropenia
Warren, Julia T., Cupo, Ryan R., Wattanasirakul, Peeradol, Spencer, David H., Locke, Adam E., Makaryan, Vahagn, Bolyard, Audrey Anna, Kelley, Merideth L., Kingston, Natalie L., Shorter, James, Bellanné-Chantelot, Christine, Donadieu, Jean, Dale, David C., Link, Daniel C.
Published in Blood (03.02.2022)
Published in Blood (03.02.2022)
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Journal Article
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
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
Published in Nature communications (23.08.2022)
Published in Nature communications (23.08.2022)
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Journal Article
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
Ganna, Andrea, Satterstrom, F. Kyle, Zekavat, Seyedeh M., Das, Indraniel, Kurki, Mitja I., Churchhouse, Claire, Alfoldi, Jessica, Martin, Alicia R., Havulinna, Aki S., Byrnes, Andrea, Thompson, Wesley K., Nielsen, Philip R., Karczewski, Konrad J., Saarentaus, Elmo, Rivas, Manuel A., Gupta, Namrata, Pietiläinen, Olli, Emdin, Connor A., Lescai, Francesco, Bybjerg-Grauholm, Jonas, Flannick, Jason, Mercader, Josep M., Udler, Miriam, Laakso, Markku, Salomaa, Veikko, Hultman, Christina, Ripatti, Samuli, Hämäläinen, Eija, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Nordentoft, Merete, Hougaard, David M., Mors, Ole, Werge, Thomas, Mortensen, Preben Bo, MacArthur, Daniel, Daly, Mark J., Sullivan, Patrick F., Locke, Adam E., Palotie, Aarno, Børglum, Anders D., Kathiresan, Sekar, Neale, Benjamin M.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Journal Article
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects
ACKERMAN, Christine, LOCKE, Adam E, REEVES, Roger H, SHERMAN, Stephanie L, MASLEN, Cheryl L, FEINGOLD, Eleanor, RESHEY, Benjamin, ESPANA, Karina, THUSBERG, Janita, MOONEY, Sean, BEAN, Lora J. H, DOOLEY, Kenneth J, CUA, Clifford L
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Journal Article
Interaction between the FTO gene, body mass index and depression: meta-analysis of 13701 individuals
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
Published in British journal of psychiatry (01.08.2017)
Published in British journal of psychiatry (01.08.2017)
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Journal Article
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
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
Published in Molecular psychiatry (01.09.2021)
Published in Molecular psychiatry (01.09.2021)
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Journal Article
Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study
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
Published in PLoS genetics (30.10.2017)
Published in PLoS genetics (30.10.2017)
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Journal Article
Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk
Thrift, Aaron P, Gong, Jian, Peters, Ulrike, Chang-Claude, Jenny, Rudolph, Anja, Slattery, Martha L, Chan, Andrew T, Locke, Adam E, Kahali, Bratati, Justice, Anne E, Pers, Tune H, Gallinger, Steven, Hayes, Richard B, Baron, John A, Caan, Bette J, Ogino, Shuji, Berndt, Sonja I, Chanock, Stephen J, Casey, Graham, Haile, Robert W, Du, Mengmeng, Harrison, Tabitha A, Thornquist, Mark, Duggan, David J, Le Marchand, Loïc, Lindor, Noralane M, Seminara, Daniela, Song, Mingyang, Wu, Kana, Thibodeau, Stephen N, Cotterchio, Michelle, Win, Aung Ko, Jenkins, Mark A, Hopper, John L, Ulrich, Cornelia M, Potter, John D, Newcomb, Polly A, Hoffmeister, Michael, Brenner, Hermann, White, Emily, Hsu, Li, Campbell, Peter T
Published in Cancer epidemiology, biomarkers & prevention (01.07.2015)
Published in Cancer epidemiology, biomarkers & prevention (01.07.2015)
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Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk
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
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
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Journal Article
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project
Freeman, Sallie B., Bean, Lora H., Allen, Emily G., Tinker, Stuart W., Locke, Adam E., Druschel, Charlotte, Hobbs, Charlotte A., Romitti, Paul A., Royle, Marjorie H., Torfs, Claudine P., Dooley, Kenneth J., Sherman, Stephanie L.
Published in Genetics in medicine (01.03.2008)
Published in Genetics in medicine (01.03.2008)
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Journal Article
Validity of Self-Reported Sunscreen Use by Parents, Children, and Lifeguards
Glanz, Karen, PhD, MPH, McCarty, Frances, PhD, Nehl, Eric J., MS, O'Riordan, David L., PhD, Gies, Peter, PhD, Bundy, Lucja, EdM, Locke, Adam E., BA, Hall, Dawn M., MPH
Published in American journal of preventive medicine (01.01.2009)
Published in American journal of preventive medicine (01.01.2009)
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Journal Article
Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort
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
Published in Metabolites (29.06.2022)
Published in Metabolites (29.06.2022)
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Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms
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
Published in Human molecular genetics (15.05.2016)
Published in Human molecular genetics (15.05.2016)
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Journal Article
Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects
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
Published in Genetics in medicine (01.07.2015)
Published in Genetics in medicine (01.07.2015)
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Next-generation genotype imputation service and methods
Das, Sayantan, Forer, Lukas, Schönherr, Sebastian, Sidore, Carlo, Locke, Adam E, Kwong, Alan, Vrieze, Scott I, Chew, Emily Y, Levy, Shawn, McGue, Matt, Schlessinger, David, Stambolian, Dwight, Loh, Po-Ru, Iacono, William G, Swaroop, Anand, Scott, Laura J, Cucca, Francesco, Kronenberg, Florian, Boehnke, Michael, Abecasis, Gonçalo R, Fuchsberger, Christian
Published in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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