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Analysis of protein-coding genetic variation in 60,706 humans
Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.
Published in Nature (London) (18.08.2016)
Published in Nature (London) (18.08.2016)
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GAS5, a non-protein-coding RNA, controls apoptosis and is downregulated in breast cancer
Mourtada-Maarabouni, M, Pickard, M R, Hedge, V L, Farzaneh, F, Williams, G T
Published in Oncogene (15.01.2009)
Published in Oncogene (15.01.2009)
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Genome-Wide Analysis of Protein-Coding Variants in Leprosy
Liu, Hong, Wang, Zhenzhen, Li, Yi, Yu, Gongqi, Fu, Xi’an, Wang, Chuan, Liu, Wenting, Yu, Yongxiang, Bao, Fangfang, Irwanto, Astrid, Liu, Jian, Chu, Tongsheng, Andiappan, Anand Kumar, Maurer-Stroh, Sebastian, Limviphuvadh, Vachiranee, Wang, Honglei, Mi, Zihao, Sun, Yonghu, Sun, Lele, Wang, Ling, Wang, Chaolong, You, Jiabao, Li, Jinghui, Foo, Jia Nee, Liany, Herty, Meah, Wee Yang, Niu, Guiye, Yue, Zhenhua, Zhao, Qing, Wang, Na, Yu, Meiwen, Yu, Wenjun, Cheng, Xiujun, Khor, Chiea Chuen, Sim, Kar Seng, Aung, Tin, Wang, Ningli, Wang, Deyun, Shi, Li, Ning, Yong, Zheng, Zhongyi, Yang, Rongde, Li, Jinlan, Yang, Jun, Yan, Liangbin, Shen, Jianping, Zhang, Guocheng, Chen, Shumin, Liu, Jianjun, Zhang, Furen
Published in Journal of investigative dermatology (01.12.2017)
Published in Journal of investigative dermatology (01.12.2017)
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Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression
Mucha, Sören, Baurecht, Hansjörg, Novak, Natalija, Rodríguez, Elke, Bej, Saptarshi, Mayr, Gabriele, Emmert, Hila, Stölzl, Dora, Gerdes, Sascha, Jung, Eun Suk, Degenhardt, Frauke, Hübenthal, Matthias, Ellinghaus, Eva, Kässens, Jan Christian, Wienbrandt, Lars, Lieb, Wolfgang, Müller-Nurasyid, Martina, Hotze, Melanie, Dand, Nick, Grosche, Sarah, Marenholz, Ingo, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O., Wehkamp, Ulrike, Nöthen, Markus M., Hoffmann, Per, Paternoster, Lavinia, Standl, Marie, Bønnelykke, Klaus, Ahluwalia, Tarunveer S., Bisgaard, Hans, Peters, Annette, Gieger, Christian, Waldenberger, Melanie, Schulz, Holger, Strauch, Konstantin, Werfel, Thomas, Lee, Young-Ae, Wolfien, Markus, Rosenstiel, Philip, Wolkenhauer, Olaf, Schreiber, Stefan, Franke, Andre, Weidinger, Stephan, Ellinghaus, David
Published in Journal of allergy and clinical immunology (01.04.2020)
Published in Journal of allergy and clinical immunology (01.04.2020)
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Whole-exome sequencing identifies protein-coding variants associated with brain iron in 29,828 individuals
Gong, Weikang, Fu, Yan, Wu, Bang-Sheng, Du, Jingnan, Yang, Liu, Zhang, Ya-Ru, Chen, Shi-Dong, Kang, JuJiao, Mao, Ying, Dong, Qiang, Tan, Lan, Feng, Jianfeng, Cheng, Wei, Yu, Jin-Tai
Published in Nature communications (02.07.2024)
Published in Nature communications (02.07.2024)
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Plant protein-coding gene families: Their origin and evolution
Fang, Yuanpeng, Jiang, Junmei, Hou, Xiaolong, Guo, Jiyuan, Li, Xiangyang, Zhao, Degang, Xie, Xin
Published in Frontiers in plant science (07.09.2022)
Published in Frontiers in plant science (07.09.2022)
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Natural selection on protein-coding genes in the human genome
Bustamante, Carlos D., Fledel-Alon, Adi, Williamson, Scott, Nielsen, Rasmus, Todd Hubisz, Melissa, Glanowski, Stephen, Tanenbaum, David M., White, Thomas J., Sninsky, John J., Hernandez, Ryan D., Civello, Daniel, Adams, Mark D., Cargill, Michele, Clark, Andrew G.
Published in Nature (London) (20.10.2005)
Published in Nature (London) (20.10.2005)
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De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation
Padhy, Biswajit, Kapuganti, Ramani Shyam, Hayat, Bushra, Mohanty, Pranjya Paramita, Alone, Debasmita Pankaj
Published in European journal of human genetics : EJHG (01.12.2019)
Published in European journal of human genetics : EJHG (01.12.2019)
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An upstream protein-coding region in enteroviruses modulates virus infection in gut epithelial cells
Lulla, Valeria, Dinan, Adam M., Hosmillo, Myra, Chaudhry, Yasmin, Sherry, Lee, Irigoyen, Nerea, Nayak, Komal M., Stonehouse, Nicola J., Zilbauer, Matthias, Goodfellow, Ian, Firth, Andrew E.
Published in Nature microbiology (01.02.2019)
Published in Nature microbiology (01.02.2019)
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Tyk2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits
Diogo, Dorothée, Bastarache, Lisa, Liao, Katherine P., Graham, Robert R., Fulton, Robert S., Greenberg, Jeffrey D., Eyre, Steve, Bowes, John, Cui, Jing, Lee, Annette, Pappas, Dimitrios A., Kremer, Joel M., Barton, Anne, Coenen, Marieke J. H., Franke, Barbara, Kiemeney, Lambertus A., Mariette, Xavier, Richard-Miceli, Corrine, Canhao, Helena, Fonseca, João, de Vries, Niek, Tak, Paul P., Crusius, J. Bart A., Nurmohamed, Michael T., Kurreeman, Fina, Mikuls, Ted R., Okada, Yukinori, Stahl, Eli A., Larson, David E., Deluca, Tracie L., O'Laughlin, Michelle, Fronick, Catrina C., Fulton, Lucinda L., Kosoy, Roman, Ransom, Michael, Bhangale, Tushar R., Ortmann, Ward, Cagan, Andrew, Gainer, Vivian, Karlson, Elizabeth W., Kohane, Isaac, Murphy, Shawn N., Martin, Javier, Zhernakova, Alexandra, Klareskog, Lars, Padyukov, Leonid, Worthington, Jane, Mardis, Elaine R., Seldin, Michael F., Gregersen, Peter K., Behrens, Timothy, Raychaudhuri, Soumya, Denny, Joshua C., Plenge, Robert M.
Published in PloS one (07.04.2015)
Published in PloS one (07.04.2015)
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Long intergenic non‑protein coding RNA 152 promotes multiple myeloma progression by negatively regulating microRNA‑497
Yu, Tianhua, Xu, Zhihua, Zhang, Xuanhe, Men, Lan, Nie, Haiying
Published in Oncology reports (01.12.2018)
Published in Oncology reports (01.12.2018)
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Darwinian and demographic forces affecting human protein coding genes
Nielsen, Rasmus, Hubisz, Melissa J., Hellmann, Ines, Torgerson, Dara, Andrés, Aida M., Albrechtsen, Anders, Gutenkunst, Ryan, Adams, Mark D., Cargill, Michele, Boyko, Adam, Indap, Amit, Bustamante, Carlos D., Clark, Andrew G.
Published in Genome Research (01.05.2009)
Published in Genome Research (01.05.2009)
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FRI457 Protein-coding Genetic Variation In Polycystic Ovary Syndrome
Parker, Chloe, Bauer, Rosemary, Welt, Corrine Kolka, Legro, Richard S, Geoffrey Hayes, M, Urbanek, Margrit
Published in Journal of the Endocrine Society (05.10.2023)
Published in Journal of the Endocrine Society (05.10.2023)
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