Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Συγγραφείς: Choi, Seung Hoan, Author, Jurgens, Sean J., Author, Xiao, Ling, Author, Hill, Matthew C., Author, Haggerty, Christopher M., Author, Sveinbjornsson, Gardar, Author, Morrill, Valerie N., Author, Marston, Nicholas A., Author, Weng, Lu-Chen, Author, Pirruccello, James P., Author, Arnar, David O., Author, Gudbjartsson, Daniel Fannar, Author, Mantineo, Helene, Author, von Falkenhausen, Aenne S., Author, Natale, Andrea, Author, Tveit, Arnljot, Author, Geelhoed, Bastiaan, Author, Roselli, Carolina, Author, Van Wagoner, David R., Author, Darbar, Dawood, Author, Haase, Doreen, Author, Soliman, Elsayed Z., Author, Davogustto, Giovanni E., Author, Jun, Goo, Author, Calkins, Hugh, Author, Anderson, Jeffrey L., Author, Brody, Jennifer A., Author, Halford, Jennifer L., Author, Barnard, John, Author, Hokanson, John E., Author, Smith, Jonathan D., Author, Bis, Joshua C., Author, Young, Kendra, Author, Johnson, Linda S. B., Author, Risch, Lorenz, Author, Gula, Lorne J., Author, Kwee, Lydia Coulter, Author, Chaffin, Mark D., Author, Kuehne, Michael, Author, Preuss, Michael, Author, Gupta, Namrata, Author, Nafissi, Navid A., Author, Smith, Nicholas L., Author, Nilsson, Peter M., Author, van der Harst, Pim, Author, Wells, Quinn S., Author, Judy, Renae L., Author, Schnabel, Renate B., Author, Johnson, Renee, Author, Smit, Roelof A. J., Author, Gabriel, Stacey, Author, Knight, Stacey, Author, Furukawa, Tetsushi, Author, Blackwell, Thomas W., Author, Nauffal, Victor, Author, Wang, Xin, Author, Min, Yuan-I, Author, Yoneda, Zachary T., Author, Laksman, Zachary W. M., Author, Bezzina, Connie R., Author, Alonso, Alvaro, Author, Psaty, Bruce M., Author, Albert, Christine M., Author, Arking, Dan E., Author, Roden, Dan M., Author, Chasman, Daniel I., Author, Rader, Daniel J., Author, Conen, David, Author, McManus, David D., Author, Fatkin, Diane, Author, Benjamin, Emelia J., Author, Boerwinkle, Eric, Author, Marcus, Gregory M., Author, Christophersen, Ingrid E., Author, Smith, J. Gustav, 1982, Author, Roberts, Jason D., Author, Raffield, Laura M., Author, Shoemaker, M. Benjamin, Author, Cho, Michael H., Author, Cutler, Michael J., Author, Rienstra, Michiel, Author, Chung, Mina K., Author, Olesen, Morten S., Author, Sinner, Moritz F., Author, Sotoodehnia, Nona, Author, Kirchhof, Paulus, Author, Loos, Ruth J. F., Author, Nazarian, Saman, Author, Mohanty, Sanghamitra, Author, Damrauer, Scott M., Author, Kaab, Stefan, Author, Heckbert, Susan R., Author, Redline, Susan, Author, Shah, Svati H., Author, Tanaka, Toshihiro, Author, Ebana, Yusuke, Author, Holm, Hilma, Author, Stefansson, Kari, Author, Ruff, Christian T., Author, Sabatine, Marc S., Author, Lunetta, Kathryn L., Author, Lubitz, Steven A., Author, Ellinor, Patrick T., Author, Abecasis, Goncalo, Author, Bai, Xiaodong, Author, Balasubramanian, Suganthi, Author, Baras, Aris, Author, Beechert, Christina, Author, Boutkov, Boris, Author, Cantor, Michael, Author, Coppola, Giovanni, Author, De, Tanima, Author, Deubler, Andrew, Author, Economides, Aris, Author, Eom, Gisu, Author, Ferreira, Manuel A. R., Author, Forsythe, Caitlin, Author, Fuller, Erin D., Author, Gu, Zhenhua, Author, Habegger, Lukas, Author, Hawes, Alicia, Author, Jones, Marcus B., Author, Karalis, Katia, Author, Khalid, Shareef, Author, Krasheninina, Olga, Author, Lanche, Rouel, Author, Lattari, Michael, Author, Li, Dadong, Author, Lopez, Alexander, Author, Lotta, Luca A., Author, Manoochehri, Kia, Author, Mansfield, Adam J., Author, Maxwell, Evan K., Author, Mighty, Jason, Author, Mitnaul, Lyndon J., Author, Nafde, Mona, Author, Nielsen, Jonas, Author, O'Keeffe, Sean, Author, Orelus, Max, Author, Overton, John D., Author, Padilla, Maria Sotiropoulos, Author, Panea, Razvan, Author, Polanco, Tommy, Author, Pradhan, Manasi, Author, Rasool, Ayesha, Author, Reid, Jeffrey G., Author, Salerno, William, Author, Schleicher, Thomas D., Author, Shuldiner, Alan, Author, Siminovitch, Katherine, Author, Staples, Jeffrey C., Author, Ulloa, Ricardo H., Author, Verweij, Niek, Author, Widom, Louis, Author, Wolf, Sarah E., Author, Abe, Namiko, Author, Aguet, Francois, Author, Almasy, Laura, Author, Ament, Seth, Author, Anderson, Peter, Author, Anugu, Pramod, Author, Applebaum-Bowden, Deborah, Author, Ardlie, Kristin, Author, Arnett, Donna K., Author, Ashley-Koch, Allison, Author, Aslibekyan, Stella, Author, Assimes, Tim, Author, Auer, Paul, Author, Avramopoulos, Dimitrios, Author, Ayas, Najib, Author, Balasubramanian, Adithya, Author, Barnes, Kathleen, Author, Barr, R. Graham, Author, Barron-Casella, Emily, Author, Barwick, Lucas, Author, Beaty, Terri, Author, Beck, Gerald, Author, Becker, Diane, Author, Becker, Lewis, Author, Beer, Rebecca, Author, Beitelshees, Amber, Author, Benos, Takis, Author, Bezerra, Marcos, Author, Bielak, Larry, Author, Blangero, John, Author, Bowden, Donald W., Author, Bowler, Russell, Author, Broeckel, Ulrich, Author, Broome, Jai, Author, Brown, Deborah, Author, Bunting, Karen, Author, Burchard, Esteban, Author, Bustamante, Carlos, Author, Buth, Erin, Author, Cade, Brian, Author, Cardwell, Jonathan, Author, Carey, Vincent, Author, Carrier, Julie, Author, Carty, Cara, Author, Casaburi, Richard, Author, Romero, Juan P. Casas, Author, Casella, James, Author, Castaldi, Peter, Author, Chang, Christy, Author, Chang, Yi-Cheng, Author, Chavan, Sameer, Author, Chen, Bo-Juen, Author, Chen, Wei-Min, Author, Chen, Yii-Der Ida, Author, Chuang, Lee-Ming, Author, Chung, Ren-Hua, Author, Clish, Clary, Author, Comhair, Suzy, Author, Conomos, Matthew, Author, Cornell, Elaine, Author, Correa, Adolfo, Author, Crandall, Carolyn, Author, Crapo, James, Author, Cupples, L. Adrienne, Author, Curran, Joanne, Author, Curtis, Jeffrey, Author, Custer, Brian, Author, Damcott, Coleen, Author, David, Sean, Author, Davis, Colleen, Author, Daya, Michelle, Author, de Andrade, Mariza, Author, de las Fuentes, Lisa, Author, de Vries, Paul, Author, DeBaun, Michael, Author, Deka, Ranjan, Author, DeMeo, Dawn, Author, Devine, Scott, Author, Doddapaneni, Harsha, Author, Duan, Qing, Author, Dugan-Perez, Shannon, Author, Duggirala, Ravi, Author, Durda, Jon Peter, Author, Dutcher, Susan K., Author, Eaton, Charles, Author, Ekunwe, Lynette, Author, El Boueiz, Adel, Author, Emery, Leslie, Author, Erzurum, Serpil, Author, Farber, Charles, Author, Farek, Jesse, Author, Fingerlin, Tasha, Author, Flickinger, Matthew, Author, Fornage, Myriam, Author, Franceschini, Nora, Author, Frazar, Chris, Author, Fu, Mao, Author, Fullerton, Stephanie M., Author, Fulton, Lucinda, Author, Gan, Weiniu, Author, Gao, Shanshan, Author, Gao, Yan, Author, Gass, Margery, Author, Geiger, Heather, Author, Gelb, Bruce, Author, Geraci, Mark, Author, Germer, Soren, Author, Gerszten, Robert, Author, Ghosh, Auyon, Author, Gibbs, Richard, Author, Gignoux, Chris, Author, Gladwin, Mark, Author, Glahn, David, Author, Gogarten, Stephanie, Author, Gong, Da-Wei, Author, Goring, Harald, Author, Graw, Sharon, Author, Gray, Kathryn J., Author, Grine, Daniel, Author, Gross, Colin, Author, Gu, C. Charles, Author, Guan, Yue, Author, Guo, Xiuqing, Author, Haas, David M., Author, Haessler, Jeff, Author, Hall, Michael, Author, Han, Yi, Author, Hanly, Patrick, Author, Harris, Daniel, Author, Hawley, Nicola L., Author, He, Jiang, Author, Heavner, Ben, Author, Hernandez, Ryan, Author, Herrington, David, Author, Hersh, Craig, Author, Hidalgo, Bertha, Author, Hixson, James, Author, Hobbs, Brian, Author, Hong, Elliott, Author, Hoth, Karin, Author, Hsiung, Chao Agnes, Author, Hu, Jianhong, Author, Hung, Yi-Jen, Author, Huston, Haley, Author, Hwu, Chii Min, Author, Irvin, Marguerite Ryan, Author, Jackson, Rebecca, Author, Jain, Deepti, Author, Jaquish, Cashell, Author, Johnsen, Jill, Author, Johnson, Andrew, Author, Johnson, Craig, Author, Johnston, Rich, Author, Jones, Kimberly, Author, Kang, Hyun Min, Author, Kaplan, Robert, Author, Kardia, Sharon, Author, Kelly, Shannon, Author, Kenny, Eimear, Author, Kessler, Michael, Author, Khan, Alyna, Author, Khan, Ziad, Author, Kim, Wonji, Author, Kimoff, John, Author, Kinney, Greg, Author, Konkle, Barbara, Author, Kooperberg, Charles, Author, Kramer, Holly, Author, Lange, Christoph, Author, Lange, Ethan, Author, Lange, Leslie, Author, Laurie, Cathy, Author, Laurie, Cecelia, Author, LeBoff, Meryl, Author, Lee, Jiwon, Author, Lee, Sandra, Author, Lee, Wen-Jane, Author, LeFaive, Jonathon, Author, Levine, David, Author, Levy, Dan, Author, Lewis, Joshua, Author, Li, Xiaohui, Author, Li, Yun, Author, Lin, Henry, Author, Lin, Honghuang, Author, Lin, Xihong, Author, Liu, Simin, Author, Liu, Yongmei, Author, Liu, Yu, Author, Luo, James, Author, Magalang, Ulysses, Author, Mahaney, Michael, Author, Make, Barry, Author, Manichaikul, Ani, Author, Manning, Alisa, Author, Manson, Joann, Author, Martin, Lisa, Author, Marton, Melissa, Author, Mathai, Susan, Author, Mathias, Rasika, Author, May, Susanne, Author, McArdle, Patrick, Author, McDonald, Merry-Lynn, Author, McFarland, Sean, Author, McGarvey, Stephen, Author, McGoldrick, Daniel, Author, McHugh, Caitlin, Author, McNeil, Becky, Author, Mei, Hao, Author, Meigs, James, Author, Menon, Vipin, Author, Mestroni, Luisa, Author, Metcalf, Ginger, Author, Meyers, Deborah A., Author, Mignot, Emmanuel, Author, Mikulla, Julie, Author, Min, Nancy, Author, Minear, Mollie, Author, Minster, Ryan L., Author, Mitchell, Braxton D., Author, Moll, Matt, Author, Momin, Zeineen, Author, Montasser, May E., Author, Montgomery, Courtney, Author, Muzny, Donna, Author, Mychaleckyj, Josyf C., Author, Nadkarni, Girish, Author, Naik, Rakhi, Author, Naseri, Take, Author, Natarajan, Pradeep, Author, Nekhai, Sergei, Author, Nelson, Sarah C., Author, Neltner, Bonnie, Author, Nessner, Caitlin, Author, Nickerson, Deborah, Author, Nkechinyere, Osuji, Author, North, Kari, Author, O'Connell, Jeff, Author, O'Connor, Tim, Author, Ochs-Balcom, Heather, Author, Okwuonu, Geoffrey, Author, Pack, Allan, Author, Paik, David T., Author, Palmer, Nicholette, Author, Pankow, James, Author, Papanicolaou, George, Author, Parker, Cora, Author, Peloso, Gina, Author, Peralta, Juan Manuel, Author, Perez, Marco, Author, Perry, James, Author, Peters, Ulrike, Author, Peyser, Patricia, Author, Phillips, Lawrence S., Author, Pleiness, Jacob, Author, Pollin, Toni, Author, Post, Wendy, Author, Becker, Julia Powers, Author, Boorgula, Meher Preethi, Author, Qasba, Pankaj, Author, Qiao, Dandi, Author, Qin, Zhaohui, Author, Rafaels, Nicholas, Author, Rajendran, Mahitha, Author, Ramachandran, Vasan S., Author, Rao, D. C., Author, Rasmussen-Torvik, Laura, Author, Ratan, Aakrosh, Author, Reed, Robert, Author, Reeves, Catherine, Author, Regan, Elizabeth, Author, Reiner, Alex, Author, Reupena, Muagututi'a Sefuiva, Author, Rice, Ken, Author, Rich, Stephen, Author, Robillard, Rebecca, Author, Robine, Nicolas, Author, Rotter, Jerome, Author, Ruczinski, Ingo, Author, Runnels, Alexi, Author, Russell, Pamela, Author, Ruuska, Sarah, Author, Ryan, Kathleen, Author, Sabino, Ester Cerdeira, Author, Saleheen, Danish, Author, Salimi, Shabnam, Author, Salvi, Sejal, Author, Salzberg, Steven, Author, Sandow, Kevin, Author, Sankaran, Vijay G., Author, Santibanez, Jireh, Author, Schwander, Karen, Author, Schwartz, David, Author, Sciurba, Frank, Author, Seidman, Christine, Author, Seidman, Jonathan, Author, Series, Frederic, Author, Sheehan, Vivien, Author, Sherman, Stephanie L., Author, Shetty, Amol, Author, Shetty, Aniket, Author, Sheu, Wayne Hui-Heng, Author, Silver, Brian, Author, Silverman, Edwin, Author, Skomro, Robert, Author, Smith, Albert Vernon, Author, Smith, Jennifer, Author, Smith, Josh, Author, Smith, Tanja, Author, Smoller, Sylvia, Author, Snively, Beverly, Author, Snyder, Michael, Author, Sofer, Tamar, Author, Stilp, Adrienne M., Author, Storm, Garrett, Author, Streeten, Elizabeth, Author, Su, Jessica Lasky, Author, Sung, Yun Ju, Author, Sylvia, Jody, Author, Szpiro, Adam, Author, Taliun, Daniel, Author, Tang, Hua, Author, Taub, Margaret, Author, Taylor, Kent D., Author, Taylor, Matthew, Author, Taylor, Simeon, Author, Telen, Marilyn, Author, Thornton, Timothy A., Author, Threlkeld, Machiko, Author, Tinker, Lesley, Author, Tirschwell, David, Author, Tishkoff, Sarah, Author, Tiwari, Hemant, Author, Tong, Catherine, Author, Tracy, Russell, Author, Tsai, Michael, Author, Vaidya, Dhananjay, Author, Van den Berg, David, Author, VandeHaar, Peter, Author, Vrieze, Scott, Author, Walker, Tarik, Author, Wallace, Robert, Author, Walts, Avram, Author, Wang, Fei Fei, Author, Wang, Heming, Author, Wang, Jiongming, Author, Watson, Karol, Author, Watt, Jennifer, Author, Weeks, Daniel E., Author, Weinstock, Joshua, Author, Weir, Bruce, Author, Weiss, Scott T., Author, Wessel, Jennifer, Author, Willer, Cristen, Author, Williams, Kayleen, Author, Williams, L. Keoki, Author, Wilson, Carla, Author, Wilson, James, Author, Winterkorn, Lara, Author, Wong, Quenna, Author, Wu, Joseph, Author, Xu, Huichun, Author, Yanek, Lisa, Author, Yang, Ivana, Author, Yu, Ketian, Author, Zekavat, Seyedeh Maryam, Author, Zhang, Yingze, Author, Zhao, Snow Xueyan, Author, Zhao, Wei, Author, Zhu, Xiaofeng, Author, Zody, Michael, Author, Zoellner, Sebastian, Author

Συνεισφορές: Choi, Seung Hoan, Author, Jurgens, Sean J., Author, Xiao, Ling, Author, Hill, Matthew C., Author, Haggerty, Christopher M., Author, Sveinbjornsson, Gardar, Author, Morrill, Valerie N., Author, Marston, Nicholas A., Author, Weng, Lu-Chen, Author, Pirruccello, James P., Author, Arnar, David O., Author, Gudbjartsson, Daniel Fannar, Author, Mantineo, Helene, Author, von Falkenhausen, Aenne S., Author, Natale, Andrea, Author, Tveit, Arnljot, Author, Geelhoed, Bastiaan, Author, Roselli, Carolina, Author, Van Wagoner, David R., Author, Darbar, Dawood, Author, Haase, Doreen, Author, Soliman, Elsayed Z., Author, Davogustto, Giovanni E., Author, Jun, Goo, Author, Calkins, Hugh, Author, Anderson, Jeffrey L., Author, Brody, Jennifer A., Author, Halford, Jennifer L., Author, Barnard, John, Author, Hokanson, John E., Author, Smith, Jonathan D., Author, Bis, Joshua C., Author, Young, Kendra, Author, Johnson, Linda S. B., Author, Risch, Lorenz, Author, Gula, Lorne J., Author, Kwee, Lydia Coulter, Author, Chaffin, Mark D., Author, Kuehne, Michael, Author, Preuss, Michael, Author, Gupta, Namrata, Author, Nafissi, Navid A., Author, Smith, Nicholas L., Author, Nilsson, Peter M., Author, van der Harst, Pim, Author, Wells, Quinn S., Author, Judy, Renae L., Author, Schnabel, Renate B., Author, Johnson, Renee, Author, Smit, Roelof A. J., Author, Gabriel, Stacey, Author, Knight, Stacey, Author, Furukawa, Tetsushi, Author, Blackwell, Thomas W., Author, Nauffal, Victor, Author, Wang, Xin, Author, Min, Yuan-I, Author, Yoneda, Zachary T., Author, Laksman, Zachary W. M., Author, Bezzina, Connie R., Author, Alonso, Alvaro, Author, Psaty, Bruce M., Author, Albert, Christine M., Author, Arking, Dan E., Author, Roden, Dan M., Author, Chasman, Daniel I., Author, Rader, Daniel J., Author, Conen, David, Author, McManus, David D., Author, Fatkin, Diane, Author, Benjamin, Emelia J., Author, Boerwinkle, Eric, Author, Marcus, Gregory M., Author, Christophersen, Ingrid E., Author, Smith, J. Gustav, 1982, Author, Roberts, Jason D., Author, Raffield, Laura M., Author, Shoemaker, M. Benjamin, Author, Cho, Michael H., Author, Cutler, Michael J., Author, Rienstra, Michiel, Author, Chung, Mina K., Author, Olesen, Morten S., Author, Sinner, Moritz F., Author, Sotoodehnia, Nona, Author, Kirchhof, Paulus, Author, Loos, Ruth J. F., Author, Nazarian, Saman, Author, Mohanty, Sanghamitra, Author, Damrauer, Scott M., Author, Kaab, Stefan, Author, Heckbert, Susan R., Author, Redline, Susan, Author, Shah, Svati H., Author, Tanaka, Toshihiro, Author, Ebana, Yusuke, Author, Holm, Hilma, Author, Stefansson, Kari, Author, Ruff, Christian T., Author, Sabatine, Marc S., Author, Lunetta, Kathryn L., Author, Lubitz, Steven A., Author, Ellinor, Patrick T., Author, Abecasis, Goncalo, Author, Bai, Xiaodong, Author, Balasubramanian, Suganthi, Author, Baras, Aris, Author, Beechert, Christina, Author, Boutkov, Boris, Author, Cantor, Michael, Author, Coppola, Giovanni, Author, De, Tanima, Author, Deubler, Andrew, Author, Economides, Aris, Author, Eom, Gisu, Author, Ferreira, Manuel A. R., Author, Forsythe, Caitlin, Author, Fuller, Erin D., Author, Gu, Zhenhua, Author, Habegger, Lukas, Author, Hawes, Alicia, Author, Jones, Marcus B., Author, Karalis, Katia, Author, Khalid, Shareef, Author, Krasheninina, Olga, Author, Lanche, Rouel, Author, Lattari, Michael, Author, Li, Dadong, Author, Lopez, Alexander, Author, Lotta, Luca A., Author, Manoochehri, Kia, Author, Mansfield, Adam J., Author, Maxwell, Evan K., Author, Mighty, Jason, Author, Mitnaul, Lyndon J., Author, Nafde, Mona, Author, Nielsen, Jonas, Author, O'Keeffe, Sean, Author, Orelus, Max, Author, Overton, John D., Author, Padilla, Maria Sotiropoulos, Author, Panea, Razvan, Author, Polanco, Tommy, Author, Pradhan, Manasi, Author, Rasool, Ayesha, Author, Reid, Jeffrey G., Author, Salerno, William, Author, Schleicher, Thomas D., Author, Shuldiner, Alan, Author, Siminovitch, Katherine, Author, Staples, Jeffrey C., Author, Ulloa, Ricardo H., Author, Verweij, Niek, Author, Widom, Louis, Author, Wolf, Sarah E., Author, Abe, Namiko, Author, Aguet, Francois, Author, Almasy, Laura, Author, Ament, Seth, Author, Anderson, Peter, Author, Anugu, Pramod, Author, Applebaum-Bowden, Deborah, Author, Ardlie, Kristin, Author, Arnett, Donna K., Author, Ashley-Koch, Allison, Author, Aslibekyan, Stella, Author, Assimes, Tim, Author, Auer, Paul, Author, Avramopoulos, Dimitrios, Author, Ayas, Najib, Author, Balasubramanian, Adithya, Author, Barnes, Kathleen, Author, Barr, R. Graham, Author, Barron-Casella, Emily, Author, Barwick, Lucas, Author, Beaty, Terri, Author, Beck, Gerald, Author, Becker, Diane, Author, Becker, Lewis, Author, Beer, Rebecca, Author, Beitelshees, Amber, Author, Benos, Takis, Author, Bezerra, Marcos, Author, Bielak, Larry, Author, Blangero, John, Author, Bowden, Donald W., Author, Bowler, Russell, Author, Broeckel, Ulrich, Author, Broome, Jai, Author, Brown, Deborah, Author, Bunting, Karen, Author, Burchard, Esteban, Author, Bustamante, Carlos, Author, Buth, Erin, Author, Cade, Brian, Author, Cardwell, Jonathan, Author, Carey, Vincent, Author, Carrier, Julie, Author, Carty, Cara, Author, Casaburi, Richard, Author, Romero, Juan P. Casas, Author, Casella, James, Author, Castaldi, Peter, Author, Chang, Christy, Author, Chang, Yi-Cheng, Author, Chavan, Sameer, Author, Chen, Bo-Juen, Author, Chen, Wei-Min, Author, Chen, Yii-Der Ida, Author, Chuang, Lee-Ming, Author, Chung, Ren-Hua, Author, Clish, Clary, Author, Comhair, Suzy, Author, Conomos, Matthew, Author, Cornell, Elaine, Author, Correa, Adolfo, Author, Crandall, Carolyn, Author, Crapo, James, Author, Cupples, L. Adrienne, Author, Curran, Joanne, Author, Curtis, Jeffrey, Author, Custer, Brian, Author, Damcott, Coleen, Author, David, Sean, Author, Davis, Colleen, Author, Daya, Michelle, Author, de Andrade, Mariza, Author, de las Fuentes, Lisa, Author, de Vries, Paul, Author, DeBaun, Michael, Author, Deka, Ranjan, Author, DeMeo, Dawn, Author, Devine, Scott, Author, Doddapaneni, Harsha, Author, Duan, Qing, Author, Dugan-Perez, Shannon, Author, Duggirala, Ravi, Author, Durda, Jon Peter, Author, Dutcher, Susan K., Author, Eaton, Charles, Author, Ekunwe, Lynette, Author, El Boueiz, Adel, Author, Emery, Leslie, Author, Erzurum, Serpil, Author, Farber, Charles, Author, Farek, Jesse, Author, Fingerlin, Tasha, Author, Flickinger, Matthew, Author, Fornage, Myriam, Author, Franceschini, Nora, Author, Frazar, Chris, Author, Fu, Mao, Author, Fullerton, Stephanie M., Author, Fulton, Lucinda, Author, Gan, Weiniu, Author, Gao, Shanshan, Author, Gao, Yan, Author, Gass, Margery, Author, Geiger, Heather, Author, Gelb, Bruce, Author, Geraci, Mark, Author, Germer, Soren, Author, Gerszten, Robert, Author, Ghosh, Auyon, Author, Gibbs, Richard, Author, Gignoux, Chris, Author, Gladwin, Mark, Author, Glahn, David, Author, Gogarten, Stephanie, Author, Gong, Da-Wei, Author, Goring, Harald, Author, Graw, Sharon, Author, Gray, Kathryn J., Author, Grine, Daniel, Author, Gross, Colin, Author, Gu, C. Charles, Author, Guan, Yue, Author, Guo, Xiuqing, Author, Haas, David M., Author, Haessler, Jeff, Author, Hall, Michael, Author, Han, Yi, Author, Hanly, Patrick, Author, Harris, Daniel, Author, Hawley, Nicola L., Author, He, Jiang, Author, Heavner, Ben, Author, Hernandez, Ryan, Author, Herrington, David, Author, Hersh, Craig, Author, Hidalgo, Bertha, Author, Hixson, James, Author, Hobbs, Brian, Author, Hong, Elliott, Author, Hoth, Karin, Author, Hsiung, Chao Agnes, Author, Hu, Jianhong, Author, Hung, Yi-Jen, Author, Huston, Haley, Author, Hwu, Chii Min, Author, Irvin, Marguerite Ryan, Author, Jackson, Rebecca, Author, Jain, Deepti, Author, Jaquish, Cashell, Author, Johnsen, Jill, Author, Johnson, Andrew, Author, Johnson, Craig, Author, Johnston, Rich, Author, Jones, Kimberly, Author, Kang, Hyun Min, Author, Kaplan, Robert, Author, Kardia, Sharon, Author, Kelly, Shannon, Author, Kenny, Eimear, Author, Kessler, Michael, Author, Khan, Alyna, Author, Khan, Ziad, Author, Kim, Wonji, Author, Kimoff, John, Author, Kinney, Greg, Author, Konkle, Barbara, Author, Kooperberg, Charles, Author, Kramer, Holly, Author, Lange, Christoph, Author, Lange, Ethan, Author, Lange, Leslie, Author, Laurie, Cathy, Author, Laurie, Cecelia, Author, LeBoff, Meryl, Author, Lee, Jiwon, Author, Lee, Sandra, Author, Lee, Wen-Jane, Author, LeFaive, Jonathon, Author, Levine, David, Author, Levy, Dan, Author, Lewis, Joshua, Author, Li, Xiaohui, Author, Li, Yun, Author, Lin, Henry, Author, Lin, Honghuang, Author, Lin, Xihong, Author, Liu, Simin, Author, Liu, Yongmei, Author, Liu, Yu, Author, Luo, James, Author, Magalang, Ulysses, Author, Mahaney, Michael, Author, Make, Barry, Author, Manichaikul, Ani, Author, Manning, Alisa, Author, Manson, Joann, Author, Martin, Lisa, Author, Marton, Melissa, Author, Mathai, Susan, Author, Mathias, Rasika, Author, May, Susanne, Author, McArdle, Patrick, Author, McDonald, Merry-Lynn, Author, McFarland, Sean, Author, McGarvey, Stephen, Author, McGoldrick, Daniel, Author, McHugh, Caitlin, Author, McNeil, Becky, Author, Mei, Hao, Author, Meigs, James, Author, Menon, Vipin, Author, Mestroni, Luisa, Author, Metcalf, Ginger, Author, Meyers, Deborah A., Author, Mignot, Emmanuel, Author, Mikulla, Julie, Author, Min, Nancy, Author, Minear, Mollie, Author, Minster, Ryan L., Author, Mitchell, Braxton D., Author, Moll, Matt, Author, Momin, Zeineen, Author, Montasser, May E., Author, Montgomery, Courtney, Author, Muzny, Donna, Author, Mychaleckyj, Josyf C., Author, Nadkarni, Girish, Author, Naik, Rakhi, Author, Naseri, Take, Author, Natarajan, Pradeep, Author, Nekhai, Sergei, Author, Nelson, Sarah C., Author, Neltner, Bonnie, Author, Nessner, Caitlin, Author, Nickerson, Deborah, Author, Nkechinyere, Osuji, Author, North, Kari, Author, O'Connell, Jeff, Author, O'Connor, Tim, Author, Ochs-Balcom, Heather, Author, Okwuonu, Geoffrey, Author, Pack, Allan, Author, Paik, David T., Author, Palmer, Nicholette, Author, Pankow, James, Author, Papanicolaou, George, Author, Parker, Cora, Author, Peloso, Gina, Author, Peralta, Juan Manuel, Author, Perez, Marco, Author, Perry, James, Author, Peters, Ulrike, Author, Peyser, Patricia, Author, Phillips, Lawrence S., Author, Pleiness, Jacob, Author, Pollin, Toni, Author, Post, Wendy, Author, Becker, Julia Powers, Author, Boorgula, Meher Preethi, Author, Qasba, Pankaj, Author, Qiao, Dandi, Author, Qin, Zhaohui, Author, Rafaels, Nicholas, Author, Rajendran, Mahitha, Author, Ramachandran, Vasan S., Author, Rao, D. 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Πηγή: NATURE GENETICS. 57:548-562

Θεματικοί όροι: Medical Genetics and Genomics, Medicinsk genetik och genomik

Σύνδεσμος πρόσβασης: https://gup.ub.gu.se/publication/348684

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

Συγγραφείς: Jawaid, Tabinda, Elbarougy, Doaa E., Lavu, Sravanthi, Buia, Guillaume, Senum, Sarah R., Olinger, Eric, Yang, Hana, McDonnell, Shannon K., Bublitz, Joshua T., Ma, Jun, Audrézet, Marie-Pierre, Madsen, Charles D., Schauer, Rachel S., Baker, Tracy A., Gregory, Adriana V., Orr, Sarah E., Barroso-Gil, Miguel, Neatu, Ruxandra, Joli, Giancarlo, Dahl, Neera K., Kline, Timothy L., Gillion, Valentine, Dahan, Karin, Jouret, Francois, Perrone, Ronald D., Steinman, Theodore I., Peters, Dorien J. 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W., Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Siminovitch, Katherine, Shuldiner, Alan, Beechert, Christina, Caitlinforsythe, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Li, Dadong, Malhotra, Sameer, Sharma, Ob Deepika, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O'Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Sun, Kathie, Backman, Joshua, Amydamask, Dobbyn, Lee, Revez Ferreira, Manuel Allen, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Freudenberg, Jan, Bovijn, Jonas, Praveen, Kavita, Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, de, Tanima, Rajagopal, Veera, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., Leblanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee

Συνεισφορές: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

Πηγή: Journal of the American Society of Nephrology, 36, 6, pp. 1056-1071
Journal of the American Society of Nephrology : JASN, (2025)

Θεματικοί όροι: polycystic kidney disease, Nephrology - Radboud University Medical Center, genetic diseases and development, nephropathy, Urology & nephrology, Urologie & néphrologie, Human health sciences, Gastroenterology - Radboud University Medical Center, Sciences de la santé humaine, ADPKD

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/39899384
https://pure.amsterdamumc.nl/en/publications/8b80e44b-dd4e-46d0-a2e9-1d42404c93ba
https://doi.org/10.1681/ASN.0000000613
https://repository.ubn.ru.nl//bitstream/handle/2066/320899/320899.pdf
https://hdl.handle.net/2066/320899
https://hdl.handle.net/2078.1/299247

Exclusion-based exome sequencing in critically ill adults 18–40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing

Συγγραφείς: Mansfield, Adam J., Li, Alexander, Lopez, Alexander, Hawes, Alicia, Averitt, Amelia, Damask, Amy, Deubler, Andrew, Ziyatdinov, Andrey, Marcketta, Anthony, Ayer, Ariane, Baras, Aris, Economides, Aris, Ghosh, Arkopravo, Guvenek, Aysegul, Rasool, Ayesha, Ye, Bin, Zhang, Blair, Boutkov, Boris, Forsythe, Caitlin, Sidore, Carlo, Paulding, Charles, Beechert, Christina, Gillies, Christopher, Li, Dadong, Rader, Daniel J., Liu, Daren, Sharma, Deepika, Stahl, Eli, Jorgenson, Eric, Fuller, Erin D., Chen, Esteban, Maxwell, Evan K., Hindy, George, Mitra, George, Coppola, Giovanni, Eom, Gisu, Abecasis, Goncalo, Tzoneva, Gannie, Kang, Hyun Min, Kosmicki, Jack, Hernandez, Jaimee, Mighty, Jason, Staples, Jeffrey C., Reid, Jeffrey G., Staples, Jeffrey, Mbatchou, Joelle, Overton, John D., Marchini, Jonathan, Bovijn, Jonas, Backman, Joshua, Rodriguez-Flores, Juan, Siminovitch, Katherine, Sun, Kathie, Praveen, Kavita, Manoochehri, Kia, Watanabe, Kyoko, Gurski, Lauren, Dobbyn, Lee, Widom, Louis, Lotta, Luca A., Mitnaul, Lyndon J., Pradhan, Manasi, Kapoor, Manav, Revez Ferreira, Manuel Allen, Jones, Marcus B., Sotiropoulos Padilla, Maria, Risman, Marjorie, Haas, Mary, Orelus, Max, Cantor, Michael, Kessler, Michael, Lattari, Michael, LeBlanc, Michelle G., Nafde, Mona, Rana, Nadia, Lin, Nan, Verweij, Niek, Banerjee, Nilanjana, Nishtala, Nirupama, Krasheninina, Olga, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Panea, Razvan, Ulloa, Ricardo H., Judy, Renae, Lanche, Rouel, Gelfman, Sahar, Malhotra, Sameer, Wolf, Sarah E., Damrauer, Scott, Dudek, Scott, O’Keeffe, Sean, Khalid, Shareef, Verma, Shefali S., Chen, Siying, Gokhale, Sujit, Balasubramanian, Suganthi, Bao, Suying, De, Tanima, Drivas, Theodore, Schleicher, Thomas D., Rajagopal, Veera, Salerno, William, Bai, Xiaodong, Bradford, Yuki, Gu, Zhenhua, PoindeTxter, Afiya, Verma, Anurag, Morse Kripke, Colleen, Wollack, Colin, Sirugo, Giorgio, Weaver, JoEllen, Dunn, Joseph, Stephanowski, Julia, Nerz, Kyle P., Ritchie, Marylyn D., Livingstone, Meghan, Naseer, Nawar, Haubein, Ned, Santos, Salma, DerOhannessian, Stephanie, Tran, Teo, Ko, Yi-An, Vadivieso, Fred, Gold, Jessica I. ¹, Kripke, Colleen M. ², Drivas, Theodore G. ^{2, 3, ∗}

Πηγή: In The American Journal of Human Genetics 7 August 2025 112(8):1792-1804

The impact of common and rare genetic variants on bradyarrhythmia development

Συγγραφείς: Weng, Lu-Chen^{Aff1, Aff2, Aff3}, Rämö, Joel T.^{Aff4, Aff5}, Jurgens, Sean J.^{Aff2, Aff6}, Khurshid, Shaan^{Aff1, Aff2, Aff7}, Chaffin, Mark^Aff2, Hall, Amelia Weber^Aff8, Morrill, Valerie N.^Aff2, Wang, Xin^Aff2, Nauffal, Victor^{Aff2, Aff3, Aff9}, Sun, Yan V.^{Aff10, Aff11}, Beer, Dominik^Aff12, Lee, Simon^Aff13, Nadkarni, Girish N.^Aff13, Duong, ThuyVy^Aff14, Wang, Biqi^Aff15, Czuba, Tomasz^{Aff16, Aff17}, Austin, Thomas R.^{Aff18, Aff19}, Yoneda, Zachary T.^Aff20, Friedman, Daniel J.^Aff21, Clayton, Anne^Aff22, Hyman, Matthew C.^Aff23, Judy, Renae L.^Aff24, Skanes, Allan C.^Aff25, Orland, Kate M.^Aff26, Treu, Timothy M.^Aff3, Oetjens, Matthew T.^Aff27, Alonso, Alvaro^Aff28, Soliman, Elsayed Z.^Aff29, Lin, Honghuang^Aff15, Lunetta, Kathryn L.^Aff30, van der Pals, Jesper^Aff31, Issa, Tariq Z.^Aff32, Nafissi, Navid A.^Aff21, May, Heidi T.^Aff22, Leong-Sit, Peter^Aff25, Roselli, Carolina^{Aff2, Aff33}, Choi, Seung Hoan^Aff2, Khan, Habib R.^Aff34, Knight, Stacey^{Aff22, Aff35}, Karlsson Linnér, Richard^{Aff27, Aff36}, Bezzina, Connie R.^Aff37, Ripatti, Samuli^Aff38, Heckbert, Susan R.^{Aff18, Aff19}, Gaziano, J. Michael^{Aff3, Aff39, Aff40}, Loos, Ruth J. F.^{Aff41, Aff42}, Psaty, Bruce M.^{Aff18, Aff43}, Smith, J. Gustav^{Aff16, Aff17, Aff31, Aff44}, Benjamin, Emelia J.^{Aff45, Aff46, Aff47}, Arking, Dan E.^Aff14, Rader, Daniel J.^Aff48, Shah, Svati H.^{Aff21, Aff49}, Roden, Dan M.^Aff50, Damrauer, Scott M.^{Aff24, Aff51}, Eckhardt, Lee L.^Aff26, Roberts, Jason D.^Aff25, Cutler, Michael J.^Aff22, Shoemaker, M. Benjamin^Aff20, Haggerty, Christopher M.^{Aff12, Aff52}, Cho, Kelly^{Aff3, Aff39, Aff40}, Palotie, Aarno^{Aff4, Aff53, Aff54}, Wilson, Peter W. F.^{Aff10, Aff55}, Ellinor, Patrick T.^{Aff2, Aff7}, Lubitz, Steven A.^{Aff7, IDs41588024019782_cor1}, Abecasis, Goncalo^Aff56, Baras, Aris^Aff56, Cantor, Michael^Aff56, Coppola, Giovanni^Aff56, Economides, Aris^Aff56, Lotta, Luca A.^Aff56, Overton, John D.^Aff56, Reid, Jeffrey G.^Aff56, Shuldiner, Alan^Aff56, Beechert, Christina^Aff56, Forsythe, Caitlin^Aff56, Fuller, Erin D.^Aff56, Gu, Zhenhua^Aff56, Lattari, Michael^Aff56, Lopez, Alexander^Aff56, Schleicher, Thomas D.^Aff56, Padilla, Maria Sotiropoulos^Aff56, Widom, Louis^Aff56, Wolf, Sarah E.^Aff56, Pradhan, Manasi^Aff56, Manoochehri, Kia^Aff56, Ulloa, Ricardo H.^Aff56, Bai, Xiaodong^Aff56, Balasubramanian, Suganthi^Aff56, Blumenfeld, Andrew^Aff56, Boutkov, Boris^Aff56, Eom, Gisu^Aff56, Habegger, Lukas^Aff56, Hawes, Alicia^Aff56, Khalid, Shareef^Aff56, Krasheninina, Olga^Aff56, Lanche, Rouel^Aff56, Mansfield, Adam J.^Aff56, Maxwell, Evan K.^Aff56, Nafde, Mrunali^Aff56, O’Keeffe, Sean^Aff56, Orelus, Max^Aff56, Panea, Razvan^Aff56, Polanco, Tommy^Aff56, Rasool, Ayesha^Aff56, Salerno, William^Aff56, Staples, Jeffrey C.^Aff56, Jones, Marcus B.^Aff56, Mitnaul, Lyndon J.^Aff56

Πηγή: Nature Genetics. 57(1):53-64

The impact of common and rare genetic variants on bradyarrhythmia development

Συγγραφείς: FinnGen, Million Veteran Program, Regeneron Genetics Center, Weng, Lu-Chen, Rämö, Joel T., Jurgens, Sean J., Khurshid, Shaan, Chaffin, Mark, Hall, Amelia Weber, Morrill, Valerie N., Wang, Xin, Nauffal, Victor, Sun, Yan V., Beer, Dominik, Lee, Simon, Nadkarni, Girish N., Duong, Thuy Vy, Wang, Biqi, Czuba, Tomasz, Austin, Thomas R., Yoneda, Zachary T., Friedman, Daniel J., Clayton, Anne, Hyman, Matthew C., Judy, Renae L., Skanes, Allan C., Orland, Kate M., Treu, Timothy M., Oetjens, Matthew T., Alonso, Alvaro, Soliman, Elsayed Z., Lin, Honghuang, Lunetta, Kathryn L., van der Pals, Jesper, Issa, Tariq Z., Nafissi, Navid A., May, Heidi T., Leong-Sit, Peter, Roselli, Carolina, Choi, Seung Hoan, Mitnaul, Lyndon J., Jones, Marcus B., Staples, Jeffrey C., Salerno, William, Rasool, Ayesha, Polanco, Tommy, Panea, Razvan, Orelus, Max, O’Keeffe, Sean, Nafde, Mrunali, Maxwell, Evan K., Ripatti, Samuli, Palotie, Aarno

Συνεισφορές: Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Complex Disease Genetics, Helsinki Institute of Life Science HiLIFE, HUS Group, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator

Θεματικοί όροι: Genetics, developmental biology, physiology

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://hdl.handle.net/10138/593321

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

Συγγραφείς: Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Blumenfeld, Andrew, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lotta, Luca A., Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Overton, John D., Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Pradhan, Manasi, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Wang, Louise ¹, Desai, Heena ², Verma, Shefali S. ³, Le, Anh ², Hausler, Ryan ², Verma, Anurag ³, Judy, Renae ⁴, Doucette, Abigail ⁵, Gabriel, Peter E. ^{5, 6}, Nathanson, Katherine L. ^{3, 5, 7}, Damrauer, Scott M. ^{4, 8}, Mowery, Danielle L. ⁹, Ritchie, Marylyn D. ³, Kember, Rachel L. ^{8, 10}, Maxwell, Kara N. ^{2, 3, 5, 8, ∗}

Πηγή: In Genetics in Medicine March 2022 24(3):601-609

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Συγγραφείς: Loughlin, John, Arden, Nigel, Birrell, Fraser, Carr, Andrew, Deloukas, Panos, Doherty, Michael, McCaskie, Andrew W., Ollier, William E.R., Rai, Ashok, Ralston, Stuart H., Spector, Tim D., Wallis, Gillian A., Martinsen, Amy E., Willer, Cristen, Fors, Egil Andreas, Mundal, Ingunn, Hagen, Knut, Nilsen, Kristian Bernhard, Lie, Marie Udnesseter, Børte, Sigrid, Brumpton, Ben, Nielsen, Jonas Bille, Fritsche, Lars G., Zhou, Wei, Heuch, Ingrid, Storheim, Kjersti, Tyrpenou, Evangelos, Koukakis, Athanasios, Chytas, Dimitrios, Evangelopoulos, Dimitrios Stergios, Efstathios, Chronopoulos, Pneumaticos, Spiros, Nikolaou, Vasileios S., Malizos, Konstantinos, Anastasopoulou, Lydia, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Karalis, Katia, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Bai, Xiaodong, Balasubramanian, Suganthi, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Li, Dadong, Sharma, Deepika, Banerjee, Ilanjana, Bovijn, Jonas, Locke, Adam, Verweij, Niek, Haas, Mary, Hindy, George, De, Tanima, Akbari, Parsa, Sosina, Olukayode, Ferreira, Manuel A.R., Jones, Marcus B., Mighty, Jason, LeBlanc, Michelle G., Mitnaul, Lyndon J., Boer, Cindy G. ^{1, 47}, Hatzikotoulas, Konstantinos ^{2, 47}, Southam, Lorraine ^{2, 47}, Stefánsdóttir, Lilja ³, Zhang, Yanfei ⁴, Coutinho de Almeida, Rodrigo ⁵, Wu, Tian T. ⁶, Zheng, Jie ⁷, Hartley, April ^{7, 8}, Teder-Laving, Maris ⁹, Skogholt, Anne Heidi ¹⁰, Terao, Chikashi ¹¹, Zengini, Eleni ¹², Alexiadis, George ¹³, Barysenka, Andrei ², Bjornsdottir, Gyda ³, Gabrielsen, Maiken E. ¹⁰, Gilly, Arthur ², Ingvarsson, Thorvaldur ^{14, 15}, Johnsen, Marianne B. ^{10, 16, 17}, Jonsson, Helgi ^{18, 14}, Kloppenburg, Margreet ¹⁹, Luetge, Almut ¹⁰, Lund, Sigrun H. ³, Mägi, Reedik ⁹, Mangino, Massimo ²⁰, Nelissen, Rob R.G.H.H. ²¹, Shivakumar, Manu ²², Steinberg, Julia ^{2, 23}, Takuwa, Hiroshi ^{24, 25}, Thomas, Laurent F. ^{10, 26, 27, 28}, Tuerlings, Margo ⁵, Babis, George C. ²⁹, Cheung, Jason Pui Yin ³⁰, Kang, Jae Hee ³¹, Kraft, Peter ³², Lietman, Steven A. ³³, Samartzis, Dino ^{30, 34}, Slagboom, P. Eline ⁵, Stefansson, Kari ^{3, 14}, Thorsteinsdottir, Unnur ^{3, 14}, Tobias, Jonathan H. ^{8, 7}, Uitterlinden, André G. ¹, Winsvold, Bendik ^{10, 35, 36}, Zwart, John-Anker ^{10, 35}, Davey Smith, George ^{7, 37}, Sham, Pak Chung ³⁸, Thorleifsson, Gudmar ³, Gaunt, Tom R. ⁷, Morris, Andrew P. ³⁹, Valdes, Ana M. ⁴⁰, Tsezou, Aspasia ⁴¹, Cheah, Kathryn S.E. ⁴², Ikegawa, Shiro ²⁴, Hveem, Kristian ^{10, 43}, Esko, Tõnu ⁹, Wilkinson, J. Mark ⁴⁴, Meulenbelt, Ingrid ⁵, Lee, Ming Ta Michael ^{4, 45}, van Meurs, Joyce B.J. ¹, Styrkársdóttir, Unnur ³, Zeggini, Eleftheria ^{2, 46, 48, ∗}

Πηγή: In Cell 2 September 2021 184(18):4784-4818

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Συγγραφείς: Jurgens, Sean J.^{Aff1, Aff2}, Choi, Seung Hoan^Aff1, Morrill, Valerie N.^Aff1, Chaffin, Mark^Aff1, Pirruccello, James P.^{Aff1, Aff3}, Halford, Jennifer L.^Aff1, Weng, Lu-Chen^{Aff1, Aff3}, Nauffal, Victor^{Aff1, Aff3}, Roselli, Carolina^Aff1, Hall, Amelia W.^{Aff1, Aff3}, Oetjens, Matthew T.^Aff4, Lagerman, Braxton^Aff5, vanMaanen, David P.^Aff5, Aragam, Krishna G.^{Aff1, Aff3}, Lunetta, Kathryn L.^{Aff6, Aff7}, Haggerty, Christopher M.^{Aff5, Aff8}, Lubitz, Steven A.^{Aff1, Aff3, Aff9}, Ellinor, Patrick T.^{Aff1, Aff3, Aff9, IDs4158802101011w_cor19}, Abecasis, Goncalo^Aff10, Bai, Xiaodong^Aff10, Balasubramanian, Suganthi^Aff10, Baras, Aris^Aff10, Beechert, Christina^Aff10, Boutkov, Boris^Aff10, Cantor, Michael^Aff10, Coppola, Giovanni^Aff10, De, Tanima^Aff10, Deubler, Andrew^Aff10, Economides, Aris^Aff10, Eom, Gisu^Aff10, Ferreira, Manuel A. R.^Aff10, Forsythe, Caitlin^Aff10, Fuller, Erin D.^Aff10, Gu, Zhenhua^Aff10, Habegger, Lukas^Aff10, Hawes, Alicia^Aff10, Jones, Marcus B.^Aff10, Karalis, Katia^Aff10, Khalid, Shareef^Aff10, Krasheninina, Olga^Aff10, Lanche, Rouel^Aff10, Lattari, Michael^Aff10, Li, Dadong^Aff10, Lopez, Alexander^Aff10, Lotta, Luca A.^Aff10, Manoochehri, Kia^Aff10, Mansfield, Adam J.^Aff10, Maxwell, Evan K.^Aff10, Mighty, Jason^Aff10, Mitnaul, Lyndon J.^Aff10, Nafde, Mona^Aff10, Nielsen, Jonas^Aff10, O’Keeffe, Sean^Aff10, Orelus, Max^Aff10, Overton, John D.^Aff10, Padilla, Maria Sotiropoulos^Aff10, Panea, Razvan^Aff10, Polanco, Tommy^Aff10, Pradhan, Manasi^Aff10, Rasool, Ayesha^Aff10, Reid, Jeffrey G.^Aff10, Salerno, William^Aff10, Schleicher, Thomas D.^Aff10, Shuldiner, Alan^Aff10, Siminovitch, Katherine^Aff10, Staples, Jeffrey C.^Aff10, Ulloa, Ricardo H.^Aff10, Verweij, Niek^Aff10, Widom, Louis^Aff10, Wolf, Sarah E.^Aff10

Πηγή: Nature Genetics. 54(3):240-250

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Συγγραφείς: Boer, Cindy G, Hatzikotoulas, Konstantinos, Southam, Lorraine, Stefánsdóttir, Lilja, Zhang, Yanfei, Coutinho de Almeida, Rodrigo, Wu, Tian T, Zheng, Jie, Hartley, April, Teder-Laving, Maris, Skogholt, Anne Heidi, Terao, Chikashi, Zengini, Eleni, Alexiadis, George, Barysenka, Andrei, Bjornsdottir, Gyda, Gabrielsen, Maiken E, Gilly, Arthur, Ingvarsson, Thorvaldur, Johnsen, Marianne B, Jonsson, Helgi, Kloppenburg, Margreet, Luetge, Almut, Lund, Sigrun H, Mägi, Reedik, Mangino, Massimo, Nelissen, Rob RGHH, Shivakumar, Manu, Steinberg, Julia, Takuwa, Hiroshi, Thomas, Laurent F, Tuerlings, Margo, Babis, George C, Cheung, Jason Pui Yin, Kang, Jae Hee, Kraft, Peter, Lietman, Steven A, Samartzis, Dino, Slagboom, P Eline, Stefansson, Kari, Thorsteinsdottir, Unnur, Tobias, Jonathan H, Uitterlinden, André G, Winsvold, Bendik, Zwart, John-Anker, Davey Smith, George, Sham, Pak Chung, Thorleifsson, Gudmar, Gaunt, Tom R, Morris, Andrew P, Valdes, Ana M, Tsezou, Aspasia, Cheah, Kathryn SE, Ikegawa, Shiro, Hveem, Kristian, Esko, Tõnu, Wilkinson, J Mark, Meulenbelt, Ingrid, Lee, Ming Ta Michael, van Meurs, Joyce BJ, Styrkársdóttir, Unnur, Zeggini, Eleftheria, Loughlin, John, Arden, Nigel, Birrell, Fraser, Carr, Andrew, Deloukas, Panos, Doherty, Michael, McCaskie, Andrew W, Ollier, William ER, Rai, Ashok, Ralston, Stuart H, Spector, Tim D, Wallis, Gillian A, Martinsen, Amy E, Willer, Cristen, Fors, Egil Andreas, Mundal, Ingunn, Hagen, Knut, Nilsen, Kristian Bernhard, Lie, Marie Udnesseter, Børte, Sigrid, Brumpton, Ben, Nielsen, Jonas Bille, Fritsche, Lars G, Zhou, Wei, Heuch, Ingrid, Storheim, Kjersti, Tyrpenou, Evangelos, Koukakis, Athanasios, Chytas, Dimitrios, Evangelopoulos, Dimitrios Stergios, Efstathios, Chronopoulos, Pneumaticos, Spiros, Nikolaou, Vasileios S, Malizos, Konstantinos, Anastasopoulou, Lydia, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan, Karalis, Katia, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D, Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E, Pradhan, Manasi, Manoochehri, Kia, Bai, Xiaodong, Balasubramanian, Suganthi, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J, Maxwell, Evan K, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C, Li, Dadong, Sharma, Deepika, Banerjee, Ilanjana, Bovijn, Jonas, Locke, Adam, Verweij, Niek, Haas, Mary, Hindy, George, De, Tanima, Akbari, Parsa, Sosina, Olukayode, Ferreira, Manuel AR, Jones, Marcus B, Mighty, Jason, LeBlanc, Michelle G, Mitnaul, Lyndon J

Πηγή: Cell
Boer, C G, Hatzikotoulas, K, Southam, L, Stefansdottir, L, Zhang, Y, Coutinho de Almeida, R, wu, T T, Zhang, J, Hartley, A E, Teder-Laving, M, Skogholt, A H, Terao, C, Zengini, E, Alexiadis, G, Barysenka, A, Bjornsdottir, G, Gabrielsen, M, Gilly, A, Ingvarsson, T, Johnsen, M B, Jonsson, H, Kloppenburg, M, Luetge, A, Lund, S H, Mägi, R, Mangino, M, Nelissen, R, Shivakumar, M, Steinberg, J, Takuwa, H, Thomas, L, Tuerlings, M, Babis, G C, Pui Yin Cheung, J, Kang, J H, Kraft, P, Lietman, S A, Samartzis, D, Slagboom, E, Stefansson, K, Thorsteinsdottir, U, Tobias, J H, Uitterlinden, A G, Winsvold, B S, Zwart, J-A, Davey Smith, G, Sham, P C, Thorleifsson, G, Gaunt, T R, Morris, A, Valdes, A M, Tsezou, A, S.E. Cheah, K, Ikegawa, S, Hveem, K, Esko, T, Wilkinson, J M, Meulenbelt, I, Ta Michael Lee, M, van Meurs, J B J, Styrkarsdottir, U & Zeggini, E 2021, 'Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations', Cell, vol. 184, no. 18, pp. 4784-4818.e17. https://doi.org/10.1016/j.cell.2021.07.038

Θεματικοί όροι: Resource, genome-wide association meta-analysis, effector genes, Polymorphism, Single Nucleotide, Risk Factors, drug targets, Osteoarthritis, Humans, Genetic Predisposition to Disease, 11 Medical and Health Sciences, Sex Characteristics, 31 Biological sciences, Correction, 32 Biomedical and clinical sciences, 06 Biological Sciences, genetic architecture, 3. Good health, osteoarthritis, Genetics, Population, Phenotype, Female, functional genomics, Developmental Biology, Genome-Wide Association Study, Signal Transduction

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://www.cell.com/article/S0092867421013180/pdf
http://www.cell.com/article/S0092867421009417/pdf
https://pubmed.ncbi.nlm.nih.gov/34450027
https://pubmed.ncbi.nlm.nih.gov/34822786
https://e-space.mmu.ac.uk/641216/

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Συγγραφείς: Szustakowski, Joseph D.^Aff1, Balasubramanian, Suganthi^Aff2, Kvikstad, Erika^Aff1, Khalid, Shareef^Aff2, Bronson, Paola G.^Aff3, Sasson, Ariella^Aff1, Wong, Emily^Aff4, Liu, Daren^Aff2, Wade Davis, J.^Aff5, Haefliger, Carolina^Aff6, Katrina Loomis, A.^Aff7, Mikkilineni, Rajesh^Aff4, Noh, Hyun Ji^Aff5, Wadhawan, Samir^Aff1, Bai, Xiaodong^Aff2, Hawes, Alicia^Aff2, Krasheninina, Olga^Aff2, Ulloa, Ricardo^Aff2, Lopez, Alex E.^Aff2, Smith, Erin N.^Aff4, Waring, Jeffrey F.^Aff5, Whelan, Christopher D.^Aff3, Tsai, Ellen A.^Aff3, Overton, John D.^Aff2, Salerno, William J.^Aff2, Jacob, Howard^Aff5, Szalma, Sandor^Aff4, Runz, Heiko^Aff3, Hinkle, Gregory^Aff8, Nioi, Paul^Aff8, Petrovski, Slavé^Aff6, Miller, Melissa R.^Aff7, Baras, Aris^Aff2, Mitnaul, Lyndon J.^Aff2, Reid, Jeffrey G.^{Aff2, IDs41588021008850_cor1}, Moiseyenko, Oleg^Aff1, Rios, Carlos^Aff1, Saha, Saurabh^Aff1, Abecasis, Goncalo^Aff2, Banerjee, Nilanjana^Aff2, Beechert, Christina^Aff2, Boutkov, Boris^Aff2, Cantor, Michael^Aff2, Coppola, Giovanni^Aff2, Economides, Aris^Aff2, Eom, Gisu^Aff2, Forsythe, Caitlin^Aff2, Fuller, Erin D.^Aff2, Gu, Zhenhua^Aff2, Habegger, Lukas^Aff2, Jones, Marcus B.^Aff2, Lanche, Rouel^Aff2, Lattari, Michael^Aff2, LeBlanc, Michelle^Aff2, Li, Dadong^Aff2, Lotta, Luca A.^Aff2, Manoochehri, Kia^Aff2, Mansfield, Adam J.^Aff2, Maxwell, Evan K.^Aff2, Mighty, Jason^Aff2, Nafde, Mrunali^Aff2, O’Keeffe, Sean^Aff2, Orelus, Max^Aff2, Padilla, Maria Sotiropoulos^Aff2, Panea, Razvan^Aff2, Polanco, Tommy^Aff2, Pradhan, Manasi^Aff2, Rasool, Ayesha^Aff2, Schleicher, Thomas D.^Aff2, Sharma, Deepika^Aff2, Shuldiner, Alan^Aff2, Staples, Jeffrey C.^Aff2, Van Hout, Cristopher V.^Aff2, Widom, Louis^Aff2, Wolf, Sarah E.^Aff2, John, Sally^Aff3, Chen, Chia-Yen^Aff3, Sexton, David^Aff3, Kupelian, Varant^Aff3, Marshall, Eric^Aff3, Swan, Timothy^Aff3, Eaton, Susan^Aff3, Liu, Jimmy Z.^Aff3, Loomis, Stephanie^Aff3, Jensen, Megan^Aff3, Duraisamy, Saranya^Aff3, Tetrault, Jason^Aff4, Merberg, David^Aff4, Badola, Sunita^Aff4, Reppell, Mark^Aff5, Grundstad, Jason^Aff5, Zheng, Xiuwen^Aff5, Deaton, Aimee M.^Aff8, Parker, Margaret M.^Aff8, Ward, Lucas D.^Aff8, Flynn-Carroll, Alexander O.^Aff8, Austin, Caroline^Aff6, March, Ruth^Aff6, Pangalos, Menelas N.^Aff6, Platt, Adam^Aff6, Snowden, Mike^Aff6, Matakidou, Athena^Aff6, Wasilewski, Sebastian^Aff6, Wang, Quanli^Aff6, Deevi, Sri^Aff6, Carss, Keren^Aff6, Smith, Katherine^Aff6, Sogaard, Morten^Aff7, Hu, Xinli^Aff7, Chen, Xing^Aff7, Ye, Zhan^Aff7

Πηγή: Nature Genetics. 53(7):942-948

Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies

Συγγραφείς: Cavazos, Taylor B.^Aff1, Kachuri, Linda^{Aff2, Aff3}, Graff, Rebecca E.^{Aff2, Aff4}, Nierenberg, Jovia L.^{Aff2, Aff5}, Thai, Khanh K.^Aff4, Alexeeff, Stacey^Aff4, Van Den Eeden, Stephen^Aff4, Corley, Douglas A.^Aff4, Kushi, Lawrence H.^Aff4, Hoffmann, Thomas J.^Aff2, Ziv, Elad^Aff5, Habel, Laurel A.^Aff4, Jorgenson, Eric^Aff6, Sakoda, Lori C.^{Aff4, Aff7}, Witte, John S.^{Aff2, Aff3, Aff8, IDs12916022025356_cor16}, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Karalis, Katia, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Siminovitch, Katherine, Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Sun, Kathie, Xin, Jiwen, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Jones, Marcus B., Mighty, Jason, Mitnaul, Lyndon J.

Πηγή: BMC Medicine. 20(1)

Classic Thrombophilias and Thrombotic Risk Among Middle‐Aged and Older Adults: A Population‐Based Cohort Study

Συγγραφείς: Manderstedt, Eric, Lind‐Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Dahlbäck, Björn, Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D, Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E, Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H, Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J, Maxwell, Evan K, Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan

Πηγή: Journal of the American Heart Association ; volume 11, issue 4 ; ISSN 2047-9980

Διαθεσιμότητα: https://doi.org/10.1161/jaha.121.023018
https://www.ahajournals.org/doi/full/10.1161/JAHA.121.023018

Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study

Συγγραφείς: Manderstedt, Eric, Lind‐Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy

Συνεισφορές: Vetenskapsrådet

Πηγή: Research and Practice in Thrombosis and Haemostasis ; volume 6, issue 7, page e12842 ; ISSN 2475-0379

Διαθεσιμότητα: http://dx.doi.org/10.1002/rth2.12842
https://onlinelibrary.wiley.com/doi/pdf/10.1002/rth2.12842
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/rth2.12842
https://api.elsevier.com/content/article/PII:S2475037922024700?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2475037922024700?httpAccept=text/plain

Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study

Συγγραφείς: Manderstedt, Eric, Halldén, Christer, Lind‐Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Padilla, Maria Sotiropoulos, Pradhan, Manasi, Schleicher, Thomas D., Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha

Συνεισφορές: Vetenskapsrådet

Πηγή: Journal of Thrombosis and Haemostasis ; volume 20, issue 6, page 1421-1427 ; ISSN 1538-7836

Διαθεσιμότητα: http://dx.doi.org/10.1111/jth.15696
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.15696
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/jth.15696
https://api.elsevier.com/content/article/PII:S153878362200191X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S153878362200191X?httpAccept=text/plain

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Συγγραφείς: Deaton, Aimee M., Parker, Margaret M., Ward, Lucas D., Flynn-Carroll, Alexander O., BonDurant, Lucas, Hinkle, Gregory, Akbari, Parsa, Lotta, Luca A., Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Karalis, Katia, Deubler, Andrew, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan

Συνεισφορές: Alnylam Pharmaceuticals, Regeneron Pharmaceuticals

Πηγή: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

Διαθεσιμότητα: https://doi.org/10.1038/s41598-021-99091-5
https://www.nature.com/articles/s41598-021-99091-5.pdf
https://www.nature.com/articles/s41598-021-99091-5

Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study

Συγγραφείς: Manderstedt, Eric, Halldén, Christer, Lind-Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A, Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Karalis, Katia, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Sotiropoulos Padilla, Maria, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha

Πηγή: Circulation: Genomic and Precision Medicine ; volume 14, issue 5 ; ISSN 2574-8300

Διαθεσιμότητα: https://doi.org/10.1161/circgen.121.003449
https://www.ahajournals.org/doi/full/10.1161/CIRCGEN.121.003449

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Συγγραφείς: Ward, Lucas D., Tu, Ho-Chou, Quenneville, Chelsea B., Tsour, Shira, Flynn-Carroll, Alexander O., Parker, Margaret M., Deaton, Aimee M., Haslett, Patrick A. J., Lotta, Luca A., Verweij, Niek, Ferreira, Manuel A. R., Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Reid, Jeffrey G., Shuldiner, Alan, Karalis, Katia, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William

Πηγή: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723

Διαθεσιμότητα: https://doi.org/10.1038/s41467-021-24563-1
https://www.nature.com/articles/s41467-021-24563-1.pdf
https://www.nature.com/articles/s41467-021-24563-1

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

Συγγραφείς: Xiao, Brenda, primary, Velez Edwards, Digna R., additional, Lucas, Anastasia, additional, Drivas, Theodore, additional, Gray, Kathryn, additional, Keating, Brendan, additional, Weng, Chunhua, additional, Jarvik, Gail P., additional, Hakonarson, Hakon, additional, Kottyan, Leah, additional, Elhadad, Noemie, additional, Wei, Wei‐Qi, additional, Luo, Yuan, additional, Kim, Dokyoon, additional, Ritchie, Marylyn, additional, Verma, Shefali Setia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Karalis, Katia, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Siminovitch, Katherine, additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Ferreira, Manuel Allen Revez, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Praveen, Kavita, additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Tzoneva, Gannie, additional, Rodriguez‐Flores, Juan, additional, Chim, Shek Man, additional, Donato, Valerio, additional, Fernandez, Daniel, additional, Gatta, Giusy Della, additional, Di Gioia, Alessandro, additional, Howell, Kristen, additional, Khrimian, Lori, additional, Kim, Minhee, additional, Martinez, Hector, additional, Miloscio, Lawrence, additional, Nunez, Sheilyn, additional, Pavlopoulos, Elias, additional, Persaud, Trikaldarshi, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, Rana, Nadia, additional

Πηγή: Journal of the American Heart Association. 2023/03/07

Σύνδεσμος πρόσβασης: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111435

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

Συγγραφείς: Verma, Anurag, Verma, Shefali S., Bradford, Yuki, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Dunn, Joseph, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Kloter, Ashley, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Poindexter, Afiya, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Sun, Kathie, Abecasis, Goncalo, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Coppola, Giovanni, Freudenberg, Jan, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Baras, Aris, Deubler, Andrew, Economides, Aris, Cappadocia, Jacqueline ¹, Aiello, Lisa B. ², Kelley, Michael J. ^{3, 4, 5}, Katona, Bryson W. ⁶, Maxwell, Kara N. ^{1, 2, 7, ∗}

Πηγή: In Genetics in Medicine Open 2024 2