Computationally efficient whole-genome regression for quantitative and binary traits
Mbatchou, Joelle, Barnard, Leland, Backman, Joshua, Marcketta, Anthony, Kosmicki, Jack A., Ziyatdinov, Andrey, Benner, Christian, O’Dushlaine, Colm, Barber, Mathew, Boutkov, Boris, Habegger, Lukas, Ferreira, Manuel, Baras, Aris, Reid, Jeffrey, Abecasis, Goncalo, Maxwell, Evan, Marchini, Jonathan
Published in Nature genetics (01.07.2021)
Published in Nature genetics (01.07.2021)
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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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Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Poznik, G David, Xue, Yali, Mendez, Fernando L, Willems, Thomas F, Massaia, Andrea, Wilson Sayres, Melissa A, Ayub, Qasim, McCarthy, Shane A, Narechania, Apurva, Kashin, Seva, Chen, Yuan, Banerjee, Ruby, Rodriguez-Flores, Juan L, Cerezo, Maria, Shao, Haojing, Gymrek, Melissa, Malhotra, Ankit, Louzada, Sandra, Desalle, Rob, Ritchie, Graham R S, Cerveira, Eliza, Fitzgerald, Tomas W, Garrison, Erik, Marcketta, Anthony, Mittelman, David, Romanovitch, Mallory, Zhang, Chengsheng, Zheng-Bradley, Xiangqun, Abecasis, Gonçalo R, McCarroll, Steven A, Flicek, Paul, Underhill, Peter A, Coin, Lachlan, Zerbino, Daniel R, Yang, Fengtang, Lee, Charles, Clarke, Laura, Auton, Adam, Erlich, Yaniv, Handsaker, Robert E, Bustamante, Carlos D, Tyler-Smith, Chris
Published in Nature genetics (01.06.2016)
Published in Nature genetics (01.06.2016)
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Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
Gusarova, Viktoria, O’Dushlaine, Colm, Teslovich, Tanya M., Benotti, Peter N., Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V., Murray, Michael F., Mahajan, Anubha, Nielsen, Jonas B., Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F., Sjögren, Marketa, Emdin, Connor A., Scott, Robert A., Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C., Dwivedi, Om Prakash, Prasad, Rashmi B., Bruse, Shannon, Lopez, Alexander E., Penn, John, Marcketta, Anthony, Leader, Joseph B., Still, Christopher D., Kirchner, H. Lester, Mirshahi, Uyenlinh L., Wardeh, Amr H., Hartle, Cassandra M., Habegger, Lukas, Fetterolf, Samantha N., Tusie-Luna, Teresa, Morris, Andrew P., Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I., Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M., Khera, Amit V., Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A., Willer, Cristen J., Holmen, Oddgeir L., Ritchie, Marylyn D., Ledbetter, David H., Murphy, Andrew J., Borecki, Ingrid B., Reid, Jeffrey G., Overton, John D., Hansson, Ola, Groop, Leif, Shah, Svati H., Kraus, William E., Rader, Daniel J., Chen, Yii-Der I., Hveem, Kristian, Wareham, Nicholas J., Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G., Tybjærg-Hansen, Anne, Abecasis, Goncalo R., Altshuler, David, Florez, Jose C., Boehnke, Michael, McCarthy, Mark I., Yancopoulos, George D., Carey, David J., Shuldiner, Alan R., Baras, Aris, Dewey, Frederick E., Gromada, Jesper
Published in Nature communications (13.06.2018)
Published in Nature communications (13.06.2018)
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PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients
Cappadocia, Jacqueline, Aiello, Lisa B., Kelley, Michael J., Katona, Bryson W., Verma, Anurag, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Fuller, Erin D., Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Bao, Suying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Sun, Kathie, Backman, Joshua, Damask, Amy, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Locke, Adam, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Ye, Bin, Coppola, Giovanni, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Abecasis, Goncalo, Baras, Aris, Deubler, Andrew, Economides, Aris, Lotta, Luca A.
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records
Kim, Hye In, Ye, Bin, Staples, Jeffrey, Marcketta, Anthony, Gao, Chuan, Shuldiner, Alan R., Van Hout, Cristopher V.
Published in HGG advances (08.07.2021)
Published in HGG advances (08.07.2021)
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris
Published in Nature (London) (29.10.2020)
Published in Nature (London) (29.10.2020)
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A global reference for human genetic variation
Auton, Adam, Brooks, Lisa D, Durbin, Richard M, Garrison, Erik P, Kang, Hyun Min, Korbel, Jan O, Marchini, Jonathan L, McCarthy, Shane, McVean, Gil A, Abecasis, Gonçalo R
Published in Nature (London) (01.10.2015)
Published in Nature (London) (01.10.2015)
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Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
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.
Published in Nature genetics (01.04.2022)
Published in Nature genetics (01.04.2022)
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Joint testing of rare variant burden scores using non-negative least squares
Ziyatdinov, Andrey, Mbatchou, Joelle, Marcketta, Anthony, Backman, Joshua, Gaynor, Sheila, Zou, Yuxin, Joseph, Tyler, Geraghty, Benjamin, Herman, Joseph, Watanabe, Kyoko, Ghosh, Arkopravo, Kosmicki, Jack, Locke, Adam, Thornton, Timothy, Kang, Hyun Min, Ferreira, Manuel, Baras, Aris, Abecasis, Goncalo, Marchini, Jonathan
Published in American journal of human genetics (03.10.2024)
Published in American journal of human genetics (03.10.2024)
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Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
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.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank
Gaynor, Sheila M., Joseph, Tyler, Bai, Xiaodong, Zou, Yuxin, Boutkov, Boris, Maxwell, Evan K., Delaneau, Olivier, Hofmeister, Robin J., Krasheninina, Olga, Balasubramanian, Suganthi, Marcketta, Anthony, Backman, Joshua, Reid, Jeffrey G., Overton, John D., Lotta, Luca A., Marchini, Jonathan, Salerno, William J., Baras, Aris, Abecasis, Goncalo R., Thornton, Timothy A.
Published in Nature genetics (01.11.2024)
Published in Nature genetics (01.11.2024)
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Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development
Nielsen, Jonas B., Fritsche, Lars G., Zhou, Wei, Teslovich, Tanya M., Holmen, Oddgeir L., Gustafsson, Stefan, Gabrielsen, Maiken E., Schmidt, Ellen M., Beaumont, Robin, Wolford, Brooke N., Lin, Maoxuan, Brummett, Chad M., Preuss, Michael H., Refsgaard, Lena, Bottinger, Erwin P., Graham, Sarah E., Surakka, Ida, Chu, Yunhan, Skogholt, Anne Heidi, Dalen, Håvard, Boyle, Alan P., Oral, Hakan, Herron, Todd J., Kitzman, Jacob, Jalife, José, Svendsen, Jesper H., Olesen, Morten S., Njølstad, Inger, Løchen, Maja-Lisa, Baras, Aris, Gottesman, Omri, Marcketta, Anthony, O’Dushlaine, Colm, Ritchie, Marylyn D., Wilsgaard, Tom, Loos, Ruth J.F., Frayling, Timothy M., Boehnke, Michael, Ingelsson, Erik, Carey, David J., Dewey, Frederick E., Kang, Hyun M., Abecasis, Gonçalo R., Hveem, Kristian, Willer, Cristen J.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
Tcheandjieu, Catherine, Xiao, Ke, Tejeda, Helio, Lynch, Julie A., Ruotsalainen, Sanni, Bellomo, Tiffany, Palnati, Madhuri, Judy, Renae, Klarin, Derek, Kember, Rachel L., Verma, Shefali, Palotie, Aarno, Daly, Mark, Ritchie, Marylyn, Rader, Daniel J., Rivas, Manuel A., Assimes, Themistocles, Tsao, Philip, Damrauer, Scott, Priest, James R.
Published in Nature genetics (01.06.2022)
Published in Nature genetics (01.06.2022)
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Rare coding variants in CHRNB2 reduce the likelihood of smoking
Rajagopal, Veera M., Watanabe, Kyoko, Mbatchou, Joelle, Ayer, Ariane, Quon, Peter, Sharma, Deepika, Kessler, Michael D., Praveen, Kavita, Gelfman, Sahar, Parikshak, Neelroop, Otto, Jacqueline M., Bao, Suying, Chim, Shek Man, Pavlopoulos, Elias, Avbersek, Andreja, Kapoor, Manav, Chen, Esteban, Jones, Marcus B., Leblanc, Michelle, Emberson, Jonathan, Collins, Rory, Torres, Jason, Morales, Pablo Kuri, Tapia-Conyer, Roberto, Alegre, Jesus, Berumen, Jaime, Shuldiner, Alan R., Balasubramanian, Suganthi, Abecasis, Gonçalo R., Kang, Hyun M., Marchini, Jonathan, Stahl, Eli A., Jorgenson, Eric, Sanchez, Robert, Liedtke, Wolfgang, Anderson, Matthew, Cantor, Michael, Lederer, David, Baras, Aris, Coppola, Giovanni
Published in Nature genetics (01.07.2023)
Published in Nature genetics (01.07.2023)
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A deep catalogue of protein-coding variation in 983,578 individuals
Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Zhang, Chuanyi, Kapoor, Manav, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam E., Ganel, Liron, Hawes, Alicia, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Di Gioia, Alessandro, Rajagopal, Veera M., Lopez, Alexander, Varela, Jennifer Rico, Alegre-Díaz, Jesús, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John D., Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Gonçalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, Balasubramanian, Suganthi
Published in Nature (London) (18.07.2024)
Published in Nature (London) (18.07.2024)
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Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone
Dunn, Michael E., Kithcart, Aaron, Kim, Jee Hae, Ho, Andre Jo-Hao, Franklin, Matthew C., Romero Hernandez, Annabel, de Hoon, Jan, Botermans, Wouter, Meyer, Jonathan, Jin, Ximei, Zhang, Dongqin, Torello, Justin, Jasewicz, Daniel, Kamat, Vishal, Garnova, Elena, Liu, Nina, Rosconi, Michael, Pan, Hao, Karnik, Satyajit, Burczynski, Michael E., Zheng, Wenjun, Rafique, Ashique, Nielsen, Jonas B., De, Tanima, Verweij, Niek, Pandit, Anita, Locke, Adam, Chalasani, Naga, Melander, Olle, Schwantes-An, Tae-Hwi, Baras, Aris, Lotta, Luca A., Musser, Bret J., Mastaitis, Jason, Devalaraja-Narashimha, Kishor B., Rankin, Andrew J., Huang, Tammy, Herman, Gary, Olson, William, Murphy, Andrew J., Yancopoulos, George D., Olenchock, Benjamin A., Morton, Lori
Published in Nature (London) (19.09.2024)
Published in Nature (London) (19.09.2024)
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NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke
Rodriguez-Flores, Juan Lorenzo, Khalid, Shareef, Parikshak, Neelroop, Rasheed, Asif, Ye, Bin, Kapoor, Manav, Backman, Joshua, Sepehrband, Farshid, Gioia, Silvio Alessandro Di, Gelfman, Sahar, De, Tanima, Banerjee, Nilanjana, Sharma, Deepika, Martinez, Hector, Castaneda, Sofia, D’Ambrosio, David, Zhang, Xingmin A., Xun, Pengcheng, Tsai, Ellen, Tsai, I-Chun, Khan, Maleeha Zaman, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Mahmood, Khalid, Salam, Tanvir Us, Hussain, Muhammad, Iqbal, Javed, Aslam, Faizan, Cantor, Michael N., Tzoneva, Gannie, Overton, John, Marchini, Jonathan, Reid, Jeffrey G., Baras, Aris, Verweij, Niek, Lotta, Luca A., Coppola, Giovanni, Karalis, Katia, Economides, Aris, Fazio, Sergio, Liedtke, Wolfgang, Danesh, John, Kamal, Ayeesha, Frossard, Philippe, Coleman, Thomas, Shuldiner, Alan R., Saleheen, Danish
Published in Nature communications (13.09.2024)
Published in Nature communications (13.09.2024)
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A large meta-analysis identifies genes associated with anterior uveitis
Gelfman, Sahar, Moscati, Arden, Huergo, Santiago Mendez, Wang, Rujin, Rajagopal, Veera, Parikshak, Neelroop, Pounraja, Vijay Kumar, Chen, Esteban, Leblanc, Michelle, Hazlewood, Ralph, Freudenberg, Jan, Cooper, Blerta, Ligocki, Ann J., Miller, Charles G., Van Zyl, Tavé, Weyne, Jonathan, Romano, Carmelo, Sagdullaev, Botir, Melander, Olle, Baras, Aris, Stahl, Eli A., Coppola, Giovanni
Published in Nature communications (11.11.2023)
Published in Nature communications (11.11.2023)
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