A hot L1 retrotransposon evades somatic repression and initiates human colorectal cancer

por Scott, Emma C., Gardner, Eugene J., Masood, Ashiq, Chuang, Nelson T., Vertino, Paula M., Devine, Scott E.
Publicado 2016

The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology

por Gardner, Eugene J., Lam, Vincent K., Harris, Daniel N., Chuang, Nelson T., Scott, Emma C., Pittard, W. Stephen, Mills, Ryan E., Devine, Scott E.
Publicado 2017

Mutagenesis of human genomes by endogenous mobile elements on a population scale

por Chuang, Nelson T., Gardner, Eugene J., Terry, Diane M., Crabtree, Jonathan, Mahurkar, Anup A., Rivell, Guillermo L., Hong, Charles C., Perry, James A., Devine, Scott E.
Publicado 2021

Damaging missense variants in IGF1R implicate a role for IGF-1 resistance in the etiology of type 2 diabetes

por Gardner, Eugene J., Kentistou, Katherine A., Stankovic, Stasa, Lockhart, Samuel, Wheeler, Eleanor, Day, Felix R., Kerrison, Nicola D., Wareham, Nicholas J., Langenberg, Claudia, O'Rahilly, Stephen, Ong, Ken K., Perry, John R.B.
Publicado 2022

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

por Gardner, Eugene J., Sifrim, Alejandro, Lindsay, Sarah J., Prigmore, Elena, Rajan, Diana, Danecek, Petr, Gallone, Giuseppe, Eberhardt, Ruth Y., Martin, Hilary C., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2021

Shared and distinct genetic etiologies for different types of clonal hematopoiesis

por Brown, Derek W., Cato, Liam D., Zhao, Yajie, Nandakumar, Satish K., Bao, Erik L., Gardner, Eugene J., Hubbard, Aubrey K., DePaulis, Alexander, Rehling, Thomas, Song, Lei, Yu, Kai, Chanock, Stephen J., Perry, John R. B., Sankaran, Vijay G., Machiela, Mitchell J.
Publicado 2023

Contribution of retrotransposition to developmental disorders

por Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2019

The contribution of X-linked coding variation to severe developmental disorders

por Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2021

Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity

por Kaisinger, Lena R., Kentistou, Katherine A., Stankovic, Stasa, Gardner, Eugene J., Day, Felix R., Zhao, Yajie, Mörseburg, Alexander, Carnie, Christopher J., Zagnoli-Vieira, Guido, Puddu, Fabio, Jackson, Stephen P., O’Rahilly, Stephen, Farooqi, I. Sadaf, Dearden, Laura, Pantaleão, Lucas C., Ozanne, Susan E., Ong, Ken K., Perry, John R.B.
Publicado 2023

Evidence for 28 genetic disorders discovered by combining healthcare and research data

por Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle
Publicado 2020

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

por Liu, Aoxing, Genovese, Giulio, Zhao, Yajie, Pirinen, Matti, Zekavat, Maryam M., Kentistou, Katherine, Yang, Zhiyu, Yu, Kai, Vlasschaert, Caitlyn, Liu, Xiaoxi, Brown, Derek W., Hudjashov, Georgi, Gorman, Bryan, Dennis, Joe, Zhou, Weiyin, Momozawa, Yukihide, Pyarajan, Saiju, Tuzov, Vlad, Pajuste, Fanny-Dhelia, Aavikko, Mervi, Sipilä, Timo P., Ghazal, Awaisa, Huang, Wen-Yi, Freedman, Neal, Song, Lei, Gardner, Eugene J., Sankaran, Vijay G., Palotie, Aarno, Ollila, Hanna M., Tukiainen, Taru, Chanock, Stephen J., Mägi, Reedik, Natarajan, Pradeep, Daly, Mark J., Bick, Alexander, McCarroll, Steven A., Terao, Chikashi, Loh, Po-Ru, Ganna, Andrea, Perry, John R.B., Machiela, Mitchell J.
Publicado 2023

Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

por Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., Simard, Jacques
Publicado 2023

Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

por Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., Simard, Jacques
Publicado 2023

An integrated map of structural variation in 2,504 human genomes

por Sudmant, Peter H., Rausch, Tobias, Gardner, Eugene J., Handsaker, Robert E., Abyzov, Alexej, Huddleston, John, Zhang, Yan, Ye, Kai, Jun, Goo, Hsi-Yang Fritz, Markus, Konkel, Miriam K., Malhotra, Ankit, Stütz, Adrian M., Shi, Xinghua, Paolo Casale, Francesco, Chen, Jieming, Hormozdiari, Fereydoun, Dayama, Gargi, Chen, Ken, Malig, Maika, Chaisson, Mark J. P., Walter, Klaudia, Meiers, Sascha, Kashin, Seva, Garrison, Erik, Auton, Adam, Lam, Hugo Y. K., Jasmine Mu, Xinmeng, Alkan, Can, Antaki, Danny, Bae, Taejeong, Cerveira, Eliza, Chines, Peter, Chong, Zechen, Clarke, Laura, Dal, Elif, Ding, Li, Emery, Sarah, Fan, Xian, Gujral, Madhusudan, Kahveci, Fatma, Kidd, Jeffrey M., Kong, Yu, Lameijer, Eric-Wubbo, McCarthy, Shane, Flicek, Paul, Gibbs, Richard A., Marth, Gabor, Mason, Christopher E., Menelaou, Androniki, Muzny, Donna M., Nelson, Bradley J., Noor, Amina, Parrish, Nicholas F., Pendleton, Matthew, Quitadamo, Andrew, Raeder, Benjamin, Schadt, Eric E., Romanovitch, Mallory, Schlattl, Andreas, Sebra, Robert, Shabalin, Andrey A., Untergasser, Andreas, Walker, Jerilyn A., Wang, Min, Yu, Fuli, Zhang, Chengsheng, Zhang, Jing, Zheng-Bradley, Xiangqun, Zhou, Wanding, Zichner, Thomas, Sebat, Jonathan, Batzer, Mark A., McCarroll, Steven A., Mills, Ryan E., Gerstein, Mark B., Bashir, Ali, Stegle, Oliver, Devine, Scott E., Lee, Charles, Eichler, Evan E., Korbel, Jan O.
Publicado 2015

Multi-platform discovery of haplotype-resolved structural variation in human genomes

por Chaisson, Mark J. P., Sanders, Ashley D., Zhao, Xuefang, Malhotra, Ankit, Porubsky, David, Rausch, Tobias, Gardner, Eugene J., Rodriguez, Oscar L., Guo, Li, Collins, Ryan L., Fan, Xian, Wen, Jia, Handsaker, Robert E., Fairley, Susan, Kronenberg, Zev N., Kong, Xiangmeng, Hormozdiari, Fereydoun, Lee, Dillon, Wenger, Aaron M., Hastie, Alex R., Antaki, Danny, Anantharaman, Thomas, Audano, Peter A., Brand, Harrison, Cantsilieris, Stuart, Cao, Han, Cerveira, Eliza, Chen, Chong, Chen, Xintong, Chin, Chen-Shan, Chong, Zechen, Chuang, Nelson T., Lambert, Christine C., Church, Deanna M., Clarke, Laura, Farrell, Andrew, Flores, Joey, Galeev, Timur, Gorkin, David U., Gujral, Madhusudan, Guryev, Victor, Heaton, William Haynes, Korlach, Jonas, Kumar, Sushant, Kwon, Jee Young, Lam, Ernest T., Lee, Jong Eun, Lee, Joyce, Lee, Wan-Ping, Lee, Sau Peng, Li, Shantao, Marks, Patrick, Viaud-Martinez, Karine, Meiers, Sascha, Munson, Katherine M., Navarro, Fabio C. P., Nelson, Bradley J., Nodzak, Conor, Noor, Amina, Kyriazopoulou-Panagiotopoulou, Sofia, Pang, Andy W. C., Qiu, Yunjiang, Rosanio, Gabriel, Ryan, Mallory, Stütz, Adrian, Spierings, Diana C. J., Ward, Alistair, Welch, AnneMarie E., Xiao, Ming, Xu, Wei, Zhang, Chengsheng, Zhu, Qihui, Zheng-Bradley, Xiangqun, Lowy, Ernesto, Yakneen, Sergei, McCarroll, Steven, Jun, Goo, Ding, Li, Koh, Chong Lek, Ren, Bing, Flicek, Paul, Chen, Ken, Gerstein, Mark B., Kwok, Pui-Yan, Lansdorp, Peter M., Marth, Gabor T., Sebat, Jonathan, Shi, Xinghua, Bashir, Ali, Ye, Kai, Devine, Scott E., Talkowski, Michael E., Mills, Ryan E., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E., Lee, Charles
Publicado 2019

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

por Kentistou, Katherine A, Kaisinger, Lena R, Stankovic, Stasa, Vaudel, Marc, de Oliveira, Edson M, Messina, Andrea, Walters, Robin G, Liu, Xiaoxi, Busch, Alexander S, Helgason, Hannes, Thompson, Deborah J, Santon, Federico, Petricek, Konstantin M, Zouaghi, Yassine, Huang-Doran, Isabel, Gudbjartsson, Daniel F, Bratland, Eirik, Lin, Kuang, Gardner, Eugene J, Zhao, Yajie, Jia, Raina, Terao, Chikashi, Riggan, Margie, Bolla, Manjeet K, Yazdanpanah, Mojgan, Yazdanpanah, Nahid, Bradfield, Jonath P, Broer, Linda, Campbell, Archie, Chasman, Daniel I, Cousminer, Diana L, Franceschini, Nora, Franke, Lude H, Girotto, Giorgia, He, Chunyan, Järvelin, Marjo-Riitta, Joshi, Peter K, Kamatani, Yoichiro, Karlsson, Robert, Luan, Jian’an, Lunetta, Kathryn L, Mägi, Reedik, Mangino, Massimo, Medland, Sarah E, Meisinger, Christa, Noordam, Raymond, Nutile, Teresa, Concas, Maria Pina, Polašek, Ozren, Porcu, Eleonora, Ring, Susan M, Sala, Cinzia, Smith, Albert V, Tanaka, Toshiko, van der Most, Peter J, Vitart, Veronique, Wang, Carol A, Willemsen, Gonneke, Zygmunt, Marek, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Auer, Paul L, Barnes, Catriona LK, Beckmann, Matthias W, Berrington, Amy, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Buring, Julie E, Canzian, Federico, Chang-Claude, Jenny, Couch, Fergus J, Cox, Angela, Crisponi, Laura, Czene, Kamila, Daly, Mary B, Demerath, Ellen W, Dennis, Joe, Devilee, Peter, Vivo, Immaculata De, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Eriksson, Johan G, Fasching, Peter A, Fernandez-Rhodes, Lindsay, Ferreli, Liana, Fletcher, Olivia, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, González-Neira, Anna, Grallert, Harald, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hakonarson, Hakon, Hart, Roger J, Hickey, Martha, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Hottenga, Jouke-Jan, Hu, Frank B, Hübner, Hanna, Hunter, David J, Jernström, Helena, John, Esther M, Karasik, David, Khusnutdinova, Elza K, Kristensen, Vessela N, Lacey, James V, Lambrechts, Diether, Launer, Lenore J, Lind, Penelope A, Lindblom, Annika, Magnusson, Patrik KE, Mannermaa, Arto, McCarthy, Mark I, Meitinger, Thomas, Menni, Cristina, Michailidou, Kyriaki, Millwood, Iona Y, Milne, Roger L, Montgomery, Grant W, Nevanlinna, Heli, Nolte, Ilja M, Nyholt, Dale R, Obi, Nadia, O’Brien, Katie M, Offit, Kenneth, Oldehinkel, Albertine J, Ostrowski, Sisse R, Palotie, Aarno, Pedersen, Ole B, Peters, Annette, Pianigiani, Giulia, Plaseska-Karanfilska, Dijana, Pouta, Anneli, Pozarickij, Alfred, Radice, Paolo, Rennert, Gad, Rosendaal, Frits R, Ruggiero, Daniela, Saloustros, Emmanouil, Sandler, Dale P, Schipf, Sabine, Schmidt, Carsten O, Schmidt, Marjanka K, Small, Kerrin, Spedicati, Beatrice, Stampfer, Meir, Stone, Jennifer, Tamimi, Rulla M, Teras, Lauren R, Tikkanen, Emmi, Turman, Constance, Vachon, Celine M, Wang, Qin, Winqvist, Robert, Wolk, Alicja, Zemel, Babette S, Zheng, Wei, van Dijk, Ko W, Alizadeh, Behrooz Z, Bandinelli, Stefania, Boerwinkle, Eric, Boomsma, Dorret I, Ciullo, Marina, Chenevix-Trench, Georgia, Cucca, Francesco, Esko, Tõnu, Gieger, Christian, Grant, Struan FA, Gudnason, Vilmundur, Hayward, Caroline, Kolčić, Ivana, Kraft, Peter, Lawlor, Deborah A, Martin, Nicholas G, Nøhr, Ellen A, Pedersen, Nancy L, Pennell, Craig E, Ridker, Paul M, Robino, Antonietta, Snieder, Harold, Sovio, Ulla, Spector, Tim D, Stöckl, Doris, Sudlow, Cathie, Timpson, Nic J, Toniolo, Daniela, Uitterlinden, André, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J, Widen, Elisabeth, Wilson, James F, Pharoah, Paul DP, Li, Liming, Easton, Douglas F, Njølstad, Pål, Sulem, Patrick, Murabito, Joanne M, Murray, Anna, Manousaki, Despoina, Juul, Anders, Erikstrup, Christian, Stefansson, Kari, Horikoshi, Momoko, Chen, Zhengming, Farooqi, I Sadaf, Pitteloud, Nelly, Johansson, Stefan, Day, Felix R, Perry, John RB, Ong, Ken K
Publicado 2023