المؤلفون: Abecasis, Gonçalo, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Ferrando, Adolfo, Lotta, Luca A, Shuldiner, Alan, Siminovitch, Katherine, Beechert, Christina, Brian, Erin D, Cremona, Laura M, Du, Hang, Forsythe, Caitlin, Gu, Zhenhua, Guevara, Kristy, Lattari, Michael, Manoochehri, Kia, Challa, Prathyusha, Pradhan, Manasi, Reynoso, Raymond, Schiavo, Ricardo, Padilla, Maria Sotiropoulos, Wang, Chenggu, Wolf, Sarah E, Averitt, Amelia, Banerjee, Nilanjana, Li, Dadong, Malhotra, Sameer, Mower, Justin, Sarwar, Mudasar, Staples, Jeffrey C, Yu, Sean, Zhang, Aaron, Bunyea, Andrew, Punuru, Krishna Pawan, Sreeram, Sanjay, Eom, Gisu, Sultan, Benjamin, Lanche, Rouel, Mahajan, Vrushali, Austin, Eliot, O’Keeffe, Sean, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Zhang, Lance, Edelstein, Evan, Guan, Ju, Krasheninina, Olga, Zarate, Samantha, Mansfield, Adam J, Maxwell, Evan K, Sun, Kathie, Ferreira, Manuel Allen Revez, Burch, Kathy, Campos, Adrian, Chen, Lei, Choi, Sam, Damask, Amy, Gaynor, Sheila, Geraghty, Benjamin, Ghosh, Arkopravo, Martinez, Salvador Romero, Gillies, Christopher, Gurski, Lauren, Herman, Joseph, Jorgenson, Eric, Kessler, Michael, Kosmicki, Jack, Lin, Nan, Locke, Adam, Nakka, Priyanka, Landheer, Karl, Delaneau, Olivier, Ghoussaini, Maya, Mbatchou, Joelle, Moscati, Arden, Pandey, Aditeya, Pandit, Anita, Paulding, Charles, Ross, Jonathan, Sidore, Carlo, Stahl, Eli, Suciu, Maria, VandeHaar, Peter, Vedantam, Sailaja, Vrieze, Scott, Zhang, Jingning, Wang, Rujin, Wu, Kuan-Han, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Zou, Yuxin, Watanabe, Kyoko, Tang, Mira, Hobbs, Brian, Silver, Jon, Palmer, William, Guerreiro, Rita

المصدر: Nature. 631(8021)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Precision Medicine, Clinical Research, Minority Health, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Good Health and Well Being, Humans, Alleles, Exome, Exome Sequencing, Gene Frequency, Genetic Variation, Heterozygote, Loss of Function Mutation, Mutation, Missense, Open Reading Frames, Proteins, RNA Splice Sites, Regeneron Genetics Center, RGC-ME Cohort Partners, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/06w2x0g7
https://escholarship.org/content/qt06w2x0g7/qt06w2x0g7.pdf

المؤلفون: Butler-Laporte, Guillaume, Povysil, Gundula, Kosmicki, Jack, Cirulli, Elizabeth, Drivas, Theodore, Furini, Simone, Saad, Chadi, Schmidt, Axel, Olszewski, Pawel, Korotko, Urszula, Quinodoz, Mathieu, Çelik, Elifnaz, Kundu, Kousik, Walter, Klaudia, Jung, Junghyun, Stockwell, Amy, Sloofman, Laura, Jordan, Daniel, Thompson, Ryan, Del Valle, Diane, Simons, Nicole, Cheng, Esther, Sebra, Robert, Schadt, Eric, Kim-Schulze, Seunghee, Gnjatic, Sacha, Merad, Miriam, Buxbaum, Joseph, Beckmann, Noam, Charney, Alexander, Przychodzen, Bartlomiej, Chang, Timothy, Pottinger, Tess, Shang, Ning, Brand, Fabian, Fava, Francesca, Mari, Francesca, Chwialkowska, Karolina, Niemira, Magdalena, Pula, Szymon, Baillie, J, Stuckey, Alex, Salas, Antonio, Bello, Xabier, Pardo-Seco, Jacobo, Gómez-Carballa, Alberto, Rivero-Calle, Irene, Martinón-Torres, Federico, Ganna, Andrea, Karczewski, Konrad, Veerapen, Kumar, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Forgetta, Vincenzo, Morrison, David, Langlais, David, Lathrop, Mark, Mooser, Vincent, Nakanishi, Tomoko, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Marincevic-Zuniga, Yanara, Nordlund, Jessica, Schiabor Barrett, Kelly, Lee, William, Bolze, Alexandre, White, Simon, Riffle, Stephen, Tanudjaja, Francisco, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Casadei, Nicolas, Motameny, Susanne, Alaamery, Manal, Massadeh, Salam, Aljawini, Nora, Almutairi, Mansour, Arabi, Yaseen, Alqahtani, Saleh, Al Harthi, Fawz, Almutairi, Amal, Alqubaishi, Fatima, Alotaibi, Sarah, Binowayn, Albandari, Alsolm, Ebtehal, El Bardisy, Hadeel, Fawzy, Mohammad, Cai, Fang, Soranzo, Nicole, Butterworth, Adam, Geschwind, Daniel, Arteaga, Stephanie, Stephens, Alexis, Butte, Manish, Boutros, Paul, Yamaguchi, Takafumi, Tao, Shu

المصدر: PLoS Genetics. 18(11)

مصطلحات موضوعية: Humans, Exome, Genome-Wide Association Study, COVID-19, Genetic Predisposition to Disease, Toll-Like Receptor 7, SARS-CoV-2

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8225n3bp
https://escholarship.org/content/qt8225n3bp/qt8225n3bp.pdf

المؤلفون: Akbari, Parsa, Gilani, Ankit, Sosina, Olukayode, Kosmicki, Jack A, Khrimian, Lori, Fang, Yi-Ya, Persaud, Trikaldarshi, Garcia, Victor, Sun, Dylan, Li, Alexander, Mbatchou, Joelle, Locke, Adam E, Benner, Christian, Verweij, Niek, Lin, Nan, Hossain, Sakib, Agostinucci, Kevin, Pascale, Jonathan V, Dirice, Ercument, Dunn, Michael, Center‡, Regeneron Genetics, Collaboration‡, DiscovEHR, Kraus, William E, Shah, Svati H, Chen, Yii-Der I, Rotter, Jerome I, Rader, Daniel J, Melander, Olle, Still, Christopher D, Mirshahi, Tooraj, Carey, David J, Berumen-Campos, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M, Emberson, Jonathan R, Collins, Rory, Balasubramanian, Suganthi, Hawes, Alicia, Jones, Marcus, Zambrowicz, Brian, Murphy, Andrew J, Paulding, Charles, Coppola, Giovanni, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan R, Cantor, Michael, Kang, Hyun M, Abecasis, Goncalo R, Karalis, Katia, Economides, Aris N, Marchini, Jonathan, Yancopoulos, George D, Sleeman, Mark W, Altarejos, Judith, Della Gatta, Giusy, Tapia-Conyer, Roberto, Schwartzman, Michal L, Baras, Aris, Ferreira, Manuel AR, Lotta, Luca A

المصدر: Science. 373(6550)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Nutrition, Prevention, Human Genome, Obesity, 2.1 Biological and endogenous factors, Metabolic and endocrine, Stroke, Oral and gastrointestinal, Animals, Body Mass Index, Exome, Genetic Variation, Humans, Mice, Mice, Knockout, Receptors, G-Protein-Coupled, Sequence Analysis, DNA, Weight Gain, Regeneron Genetics Center, DiscovEHR Collaboration, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/78525869
https://escholarship.org/content/qt78525869/qt78525869.pdf

المؤلفون: 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, Abecasis, Gonçalo, Ferrando, Adolfo, Cantor, Michael, Deubler, Andrew, Overton, John D, Siminovitch, Katherine, Portnoy, Jason, Jones, Marcus B, Mitnaul, Lyndon, Fenney, Alison, Ferreira, Manuel Allen Revez, Ghoussaini, Maya, Nafde, Mona, Salerno, William, Beechert, Christina, Brian, Erin D, Cremona, Laura M, Du, Hang, Forsythe, Caitlin, Gu, Zhenhua, Guevara, Kristy, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Challa, Prathyusha, Pradhan, Manasi, Reynoso, Raymond, Schiavo, Ricardo, Padilla, Maria Sotiropoulos, Wang, Chenggu, Wolf, Sarah E, Averitt, Amelia, Li, Dadong, Malhotra, Sameer, Mower, Justin, Sarwar, Mudasar, Yu, Sean, Zhang, Xingmin Aaron, Aqeel, Muhammad, Goyal, Manan, Mitra, George, Sreeram, Sanjay, Lanche, Rouel, Mahajan, Vrushali, Vasireddy, Sai Lakshmi, Eom, Gisu, Punuru, Krishna Pawan, Gokhale, Sujit, Sultan, Benjamin, Mule, Pooja, Austin, Eliot, Bai, Xiaodong, Zhang, Lance, O’Keeffe, Sean, Panea, Razvan, Edelstein, Evan, Rasool, Ayesha, Maxwell, Evan K, Boutkov, Boris, Gorovits, Alexander, Guan, Ju, Habegger, Lukas, Hawes, Alicia, Krasheninina, Olga, Zarate, Samantha, Mansfield, Adam J, Burch, Kathy, Campos, Adrian, Ganel, Liron, Gaynor, Sheila, Geraghty, Benjamin, Ghosh, Arkopravo, Martinez, Salvador Romero, Gillies, Christopher, Gurski, Lauren, Herman, Joseph, Jorgenson, Eric, Joseph, Tyler, Kessler, Michael, Kosmicki, Jack, Locke, Adam, Nakka, Priyanka, Landheer, Karl, Delaneau, Olivier, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Pandey, Aditeya, Pandit, Anita, Ross, Jonathan, Sidore, Carlo, Stahl, Eli, Thornton, Timothy, VandeHaar, Peter, Vedantam, Sailaja, Wang, Rujin, Wu, Kuan-Han, Bin Ye, Zhang, Blair, Ziyatdinov, Andrey, Zou, Yuxin, Zhang, Jingning, Watanabe, Kyoko, Tang, Mira, Wendt, Frank, Balasubramanian, Suganthi, Bao, Suying, Sun, Kathie, Zhang, Chuanyi, Hobbs, Brian, Silver, Jon, Palmer, William, Guerreiro, Rita, Joshi, Amit, Baldassari, Antoine, Willer, Cristen, Graham, Sarah, Mayerhofer, Ernst, Haas, Mary, Hindy, George, Bovijn, Jonas, Akbari, Parsa, Sun, Luanluan, Sosina, Olukayode, Gilly, Arthur, Dornbos, Peter, Riaz, Moeen, Jallow, Momodou W, Alkelai, Anna, Ayer, Ariane, Rajagopal, Veera, Kumar, Vijay, Otto, Jacqueline, Guvenek, Aysegul, Bras, Jose, Alvarez, Silvia, Brown, Jessie, He, Jing, Khiabanian, Hossein, Revez, Joana, Skead, Kimberly, Zavala, Valentina, Sul, Jae Soon, Chen, Lei, Choi, Sam, Damask, Amy, Lin, Nan, Paulding, Charles, Chen, Esteban, LeBlanc, Michelle G, Mighty, Jason, Rico-Varela, Jennifer, Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Schwartz, Randi, Hankins, Jody, Han, Anna, Hart, Samuel, Perez-Beals, Ann, Solari, Gina, Rivera-Picart, Johannie, Pagan, Michelle, Siceron, Sunilbe, 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

وصف الملف: application/pdf; text/xml; application/zip

Relation: https://www.repository.cam.ac.uk/handle/1810/373748

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/373748

المؤلفون: Satterstrom, F Kyle, Kosmicki, Jack A, Wang, Jiebiao, Breen, Michael S, De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S, Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E, Dias, Caroline, Consortium, Autism Sequencing, Aleksic, Branko, Anney, Richard, Barbosa, Mafalda, Bishop, Somer, Brusco, Alfredo, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chan, Marcus CY, Chiocchetti, Andreas G, Chung, Brian HY, Coon, Hilary, Cuccaro, Michael L, Curró, Aurora, Bernardina, Bernardo Dalla, Doan, Ryan, Domenici, Enrico, Dong, Shan, Fallerini, Chiara, Fernández-Prieto, Montserrat, Ferrero, Giovanni Battista, Freitag, Christine M, Fromer, Menachem, Gargus, J Jay, Geschwind, Daniel, Giorgio, Elisa, González-Peñas, Javier, Guter, Stephen, Halpern, Danielle, Hansen-Kiss, Emily, He, Xin, Herman, Gail E, Hertz-Picciotto, Irva, Hougaard, David M, Hultman, Christina M, Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kaartinen, Miia, Knudsen, Gun Peggy, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T, Lintas, Carla, Lipkin, W Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Magnus, Per, Mahjani, Behrang, Maltman, Nell, Manoach, Dara S, Meiri, Gal, Menashe, Idan, Miller, Judith, Minshew, Nancy, Montenegro, Eduarda MS, Moreira, Danielle, Morrow, Eric M, Mors, Ole, Mortensen, Preben Bo, Mosconi, Matthew, Muglia, Pierandrea, Neale, Benjamin M, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Pericak-Vance, Margaret, Persico, Antonio M, Pessah, Isaac

المصدر: Cell. 180(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Intellectual and Developmental Disabilities (IDD), Autism, Neurosciences, Clinical Research, Pediatric, Human Genome, Mental Health, Brain Disorders, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Neurological, Mental health, Autistic Disorder, Case-Control Studies, Cell Lineage, Cerebral Cortex, Cohort Studies, Exome, Female, Gene Expression Regulation, Developmental, Gene Frequency, Genetic Predisposition to Disease, Humans, Male, Mutation, Missense, Neurobiology, Neurons, Phenotype, Sex Factors, Single-Cell Analysis, Exome Sequencing, Autism Sequencing Consortium, iPSYCH-Broad Consortium, autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3gk8w6xr
https://escholarship.org/content/qt3gk8w6xr/qt3gk8w6xr.pdf

المؤلفون: Howrigan, Daniel P, Rose, Samuel A, Samocha, Kaitlin E, Fromer, Menachem, Cerrato, Felecia, Chen, Wei J, Churchhouse, Claire, Chambert, Kimberly, Chandler, Sharon D, Daly, Mark J, Dumont, Ashley, Genovese, Giulio, Hwu, Hai-Gwo, Laird, Nan, Kosmicki, Jack A, Moran, Jennifer L, Roe, Cheryl, Singh, Tarjinder, Wang, Shi-Heng, Faraone, Stephen V, Glatt, Stephen J, McCarroll, Steven A, Tsuang, Ming, Neale, Benjamin M

المصدر: Nature Neuroscience. 23(2)

مصطلحات موضوعية: Serious Mental Illness, Schizophrenia, Mental Health, Biotechnology, Human Genome, Clinical Research, Genetics, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Adult, Child, Family, Female, Genetic Predisposition to Disease, Humans, Male, Mutation, Parents, Exome Sequencing, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4q8434bv

المؤلفون: Butler-Laporte, Guillaume, Povysil, Gundula, Kosmicki, Jack A., Cirulli, Elizabeth T., Drivas, Theodore, Furini, Simone, Saad, Chadi, Schmidt, Axel, Olszewski, Pawel, Korotko, Urszula, Quinodoz, Mathieu, Çelik, Elifnaz, Kundu, Kousik, Walter, Klaudia, Jung, Junghyun, Stockwell, Amy D., Sloofman, Laura G., Jordan, Daniel M., Thompson, Ryan C., Del Valle, Diane, Simons, Nicole, Cheng, Esther, Sebra, Robert, Schadt, Eric E., Kim-Schulze, Seunghee, Gnjatic, Sacha, Merad, Miriam, Buxbaum, Joseph D., Beckmann, Noam D., Charney, Alexander W., Przychodzen, Bartlomiej, Chang, Timothy, Pottinger, Tess D., Shang, Ning, Brand, Fabian, Fava, Francesca, Mari, Francesca, Chwialkowska, Karolina, Niemira, Magdalena, Pula, Szymon, Kenneth Baillie, J., Stuckey, Alex, Salas, Antonio, Bello, Xabier, Pardo-Seco, Jacobo, Gómez-Carballa, Alberto, Rivero-Calle, Irene, Martinón-Torres, Federico, Ganna, Andrea, Karczewski, Konrad J., Veerapen, Kumar, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert J.M., Forgetta, Vincenzo, Morrison, David, Langlais, David, Lathrop, Mark, Mooser, Vincent, Nakanishi, Tomoko, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Marincevic-Zuniga, Yanara, Nordlund, Jessica, Schiabor Barrett, Kelly M., Lee, William, Bolze, Alexandre, White, Simon, Riffle, Stephen, Tanudjaja, Francisco, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Casadei, Nicolas, Motameny, Susanne, Alaamery, Manal, Massadeh, Salam, Aljawini, Nora, Almutairi, Mansour S., Arabi, Yaseen M., Alqahtani, Saleh A., Al Harthi, Fawz S., Almutairi, Amal, Alqubaishi, Fatima, Alotaibi, Sarah, Binowayn, Albandari, Alsolm, Ebtehal A., Bardisy, Hadeel El, Fawzy, Mohammad, Cai, Fang, Soranzo, Nicole, Butterworth, Adam, Center, Regeneron Genetics, Geschwind, Daniel H., Arteaga, Stephanie, Stephens, Alexis, Butte, Manish J., Boutros, Paul C., Yamaguchi, Takafumi N., Tao, Shu, Eng, Stefan, Sanders, Timothy, Tung, Paul J., Broudy, Michael E., Pan, Yu, Gonzalez, Alfredo, Chavan, Nikhil, Johnson, Ruth, Pasaniuc, Bogdan, Yaspan, Brian, Smieszek, Sandra, Rivolta, Carlo, Bibert, Stephanie, Bochud, Pierre Yves, Dabrowski, Maciej, Zawadzki, Pawel, Sypniewski, Mateusz, Kaja, Elżbieta, Chariyavilaskul, Pajaree, Nilaratanakul, Voraphoj, Hirankarn, Nattiya, Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat, Chetruengchai, Wanna, Tokunaga, Katsushi, Sugiyama, Masaya, Kawai, Yosuke, Hasegawa, Takanori, Naito, Tatsuhiko, Namkoong, Ho, Edahiro, Ryuya, Kimura, Akinori, Ogawa, Seishi, Kanai, Takanori, Fukunaga, Koichi, Okada, Yukinori, Imoto, Seiya, Miyano, Satoru, Mangul, Serghei, Abedalthagafi, Malak S., Zeberg, Hugo, Grzymski, Joseph J., Washington, Nicole L., Ossowski, Stephan, Ludwig, Kerstin U., Schulte, Eva C., Riess, Olaf, Moniuszko, Marcin, Kwasniewski, Miroslaw, Mbarek, Hamdi, Ismail, Said I., Verma, Anurag, Goldstein, David B., Kiryluk, Krzysztof, Renieri, Alessandra, Ferreira, Manuel A.R., Brent Richards, J.

المساهمون: Data Science Genetic Epidemiology Lab, Institute for Molecular Medicine Finland, University of Helsinki, Helsinki Institute of Life Science HiLIFE

مصطلحات موضوعية: Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Butler-Laporte , G , Povysil , G , Kosmicki , J A , Cirulli , E T , Drivas , T , Furini , S , Saad , C , Schmidt , A , Olszewski , P , Korotko , U , Quinodoz , M , Çelik , E , Kundu , K , Walter , K , Jung , J , Stockwell , A D , Sloofman , L G , Jordan , D M , Thompson , R C , Del Valle , D , Simons , N , Cheng , E , Sebra , R , Schadt , E E , Kim-Schulze , S , Gnjatic , S , Merad , M , Buxbaum , J D , Beckmann , N D , Charney , A W , Przychodzen , B , Chang , T , Pottinger , T D , Shang , N , Brand , F , Fava , F , Mari , F , Chwialkowska , K , Niemira , M , Pula , S , Kenneth Baillie , J , Stuckey , A , Salas , A , Bello , X , Pardo-Seco , J , Gómez-Carballa , A , Rivero-Calle , I , Martinón-Torres , F , Ganna , A , Karczewski , K J , Veerapen , K , Bourgey , M , Bourque , G , Eveleigh , R J M , Forgetta , V , Morrison , D , Langlais , D , Lathrop , M , Mooser , V , Nakanishi , T , Frithiof , R , Hultström , M , Lipcsey , M , Marincevic-Zuniga , Y , Nordlund , J , Schiabor Barrett , K M , Lee , W , Bolze , A , White , S , Riffle , S , Tanudjaja , F , Sandoval , E , Neveux , I , Dabe , S , Casadei , N , Motameny , S , Alaamery , M , Massadeh , S , Aljawini , N , Almutairi , M S , Arabi , Y M , Alqahtani , S A , Al Harthi , F S , Almutairi , A , Alqubaishi , F , Alotaibi , S , Binowayn , A , Alsolm , E A , Bardisy , H E , Fawzy , M , Cai , F , Soranzo , N , Butterworth , A , Center , R G , Geschwind , D H , Arteaga , S , Stephens , A , Butte , M J , Boutros , P C , Yamaguchi , T N , Tao , S , Eng , S , Sanders , T , Tung , P J , Broudy , M E , Pan , Y , Gonzalez , A , Chavan , N , Johnson , R , Pasaniuc , B , Yaspan , B , Smieszek , S , Rivolta , C , Bibert , S , Bochud , P Y , Dabrowski , M , Zawadzki , P , Sypniewski , M , Kaja , E , Chariyavilaskul , P , Nilaratanakul , V , Hirankarn , N , Shotelersuk , V , Pongpanich , M , Phokaew , C , Chetruengchai , W , Tokunaga , K , Sugiyama , M , Kawai , Y , Hasegawa , T , Naito , T , Namkoong , H , Edahiro , R , Kimura , A , Ogawa , S , Kanai , T , Fukunaga , K , Okada , Y , Imoto , S , Miyano , S , Mangul , S , Abedalthagafi , M S , Zeberg , H , Grzymski , J J , Washington , N L , Ossowski , S , Ludwig , K U , Schulte , E C , Riess , O , Moniuszko , M , Kwasniewski , M , Mbarek , H , Ismail , S I , Verma , A , Goldstein , D B , Kiryluk , K , Renieri , A , Ferreira , M A R & Brent Richards , J 2022 , ' Exome-wide association study to identify rare variants influencing COVID-19 outcomes : Results from the Host Genetics Initiative ' , PLoS Genetics , vol. 18 , no. 11 , e1010367 . https://doi.org/10.1371/journal.pgen.1010367; ORCID: /0000-0002-8147-240X/work/129623447; http://hdl.handle.net/10138/355026; a0c4567f-3135-44f0-b80b-cd34d8e14749; 85141890269; 000925085700002

الاتاحة: http://hdl.handle.net/10138/355026

المؤلفون: Weiner, Daniel J, Wigdor, Emilie M, Ripke, Stephan, Walters, Raymond K, Kosmicki, Jack A, Grove, Jakob, Samocha, Kaitlin E, Goldstein, Jacqueline I, Okbay, Aysu, Bybjerg-Grauholm, Jonas, Werge, Thomas, Hougaard, David M, Taylor, Jacob, Skuse, David, Devlin, Bernie, Anney, Richard, Sanders, Stephan J, Bishop, Somer, Mortensen, Preben Bo, Børglum, Anders D, Smith, George Davey, Daly, Mark J, Robinson, Elise B

المصدر: Nature Genetics. 49(7)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Brain Disorders, Prevention, Mental Health, Intellectual and Developmental Disabilities (IDD), Autism, 2.4 Surveillance and distribution, Mental health, Good Health and Well Being, Adult, Autism Spectrum Disorder, Child, Cohort Studies, Educational Status, Ethnicity, Family Health, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genetics, Behavioral, Humans, Intellectual Disability, Intelligence, Male, Multifactorial Inheritance, Phenotype, Risk Factors, Schizophrenia, Sequence Deletion, iPSYCH-Broad Autism Group, Psychiatric Genomics Consortium Autism Group, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5hg8t5c9
https://escholarship.org/content/qt5hg8t5c9/qt5hg8t5c9.pdf

المؤلفون: Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J, Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D, Neale, Benjamin M, MacArthur, Daniel G, Wall, Dennis P, Robinson, Elise B, Daly, Mark J

المصدر: Nature Genetics. 49(4)

مصطلحات موضوعية: Biological Sciences, Genetics, 2.1 Biological and endogenous factors, Autism Spectrum Disorder, Exome, Genetic Predisposition to Disease, Genetic Variation, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0sd194fx
https://escholarship.org/content/qt0sd194fx/qt0sd194fx.pdf

المؤلفون: Kousathanas, Athanasios, Pairo-Castineira, Erola, Rawlik, Konrad, Stuckey, Alex, Odhams, Christopher A, Walker, Susan, Russell, Clark D, Malinauskas, Tomas, Wu, Yang, Millar, Jonathan, Shen, Xia, Elliott, Katherine S, Griffiths, Fiona, Oosthuyzen, Wilna, Morrice, Kirstie, Keating, Sean, Wang, Bo, Rhodes, Daniel, Klaric, Lucija, Zechner, Marie, Parkinson, Nick, Siddiq, Afshan, Goddard, Peter, Donovan, Sally, Maslove, David, Nichol, Alistair, Semple, Malcolm G, Zainy, Tala, Maleady-Crowe, Fiona, Todd, Linda, Salehi, Shahla, Knight, Julian, Elgar, Greg, Chan, Georgia, Arumugam, Prabhu, Patch, Christine, Rendon, Augusto, Bentley, David, Kingsley, Clare, Kosmicki, Jack A, Horowitz, Julie E, Baras, Aris, Abecasis, Goncalo R, Ferreira, Manuel A R, Justice, Anne, Mirshahi, Tooraj, Oetjens, Matthew, Rader, Daniel J, Ritchie, Marylyn D, Verma, Anurag, Fowler, Tom A, Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J M, Elliott, Paul, Walsh, Timothy, Tenesa, Albert, GenOMICC Investigators, Renieri, A., Mari, F., Fallerini, C., Daga, S., Benetti, E., Baldassarri, M., Fava, F., Frullanti, E., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Mencarelli, MA., Lo Rizzo, C., Pinto, AM., Beligni, G., Di Sarno, L., Palmieri, M., Carriero, M. L., Alaverdian, D., Picchiotti, N., Gori, M., Montagnani, F., Fabbiani, M., Rossetti, B., Bargagli, E., Bergantini, L., D’Alessandro, M., Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, F., Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Valente, S., Mandalà, M., Giorli, A., Salerni, L., Tumbarello, M., Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Ponting, Chris P, Vitart, Veronique, Wilson, James F, Yang, Jian, Bretherick, Andrew D, Scott, Richard H, Hendry, Sara Clohisey, Moutsianas, Loukas, Law, Andy, Caulfield, Mark J, Baillie, J Kenneth

المساهمون: Kousathanas, Athanasio, Pairo-Castineira, Erola, Rawlik, Konrad, Stuckey, Alex, Odhams, Christopher A, Walker, Susan, Russell, Clark D, Malinauskas, Toma, Wu, Yang, Millar, Jonathan, Shen, Xia, Elliott, Katherine S, Griffiths, Fiona, Oosthuyzen, Wilna, Morrice, Kirstie, Keating, Sean, Wang, Bo, Rhodes, Daniel, Klaric, Lucija, Zechner, Marie, Parkinson, Nick, Siddiq, Afshan, Goddard, Peter, Donovan, Sally, Maslove, David, Nichol, Alistair, Semple, Malcolm G, Zainy, Tala, Maleady-Crowe, Fiona, Todd, Linda, Salehi, Shahla, Knight, Julian, Elgar, Greg, Chan, Georgia, Arumugam, Prabhu, Patch, Christine, Rendon, Augusto, Bentley, David, Kingsley, Clare, Kosmicki, Jack A, Horowitz, Julie E, Baras, Ari, Abecasis, Goncalo R, Ferreira, Manuel A R, Justice, Anne, Mirshahi, Tooraj, Oetjens, Matthew, Rader, Daniel J, Ritchie, Marylyn D, Verma, Anurag, Fowler, Tom A, Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charle, Horby, Peter, Ling, Lowell, Mcauley, Danny, Montgomery, Hugh, Openshaw, Peter J M, Elliott, Paul, Walsh, Timothy, Tenesa, Albert, Genomicc, Investigator, Renieri, A., Mari, F., Fallerini, C., Daga, S., Benetti, E., Baldassarri, M., Fava, F., Frullanti, E., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Mencarelli, Ma., Lo Rizzo, C., Pinto, Am., Beligni, G., Di Sarno, L., Palmieri, M., Carriero, M. L., Alaverdian, D., Picchiotti, N., Gori, M., Montagnani, F., Fabbiani, M., Rossetti, B., Bargagli, E., Bergantini, L., D’Alessandro, M., Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S.

مصطلحات موضوعية: ATP-Binding Cassette Transporter, Cell Adhesion Molecule, Critical Care, E-Selectin, Factor VIII, Fucosyltransferase, Genome-Wide Association Study, Human, Interleukin-10 Receptor beta Subunit, Lectins, C-Type, Mucin-1, Nerve Tissue Protein, Phospholipid Transfer Protein, Receptors, Cell Surface, Repressor Protein, SARS-CoV-2, COVID-19, Critical Illne, Genome, Host-Pathogen Interaction, Whole Genome Sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35255492; info:eu-repo/semantics/altIdentifier/wos/WOS:000812472400001; volume:607; issue:7917; firstpage:97; lastpage:103; numberofpages:7; journal:NATURE; https://hdl.handle.net/11365/1216994; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259496/

الاتاحة: https://hdl.handle.net/11365/1216994
https://doi.org/10.1038/s41586-022-04576-6
https://www.nature.com/articles/s41586-022-04576-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259496/

المؤلفون: 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, Exome Aggregation Consortium

المصدر: Nature. 536(7616)

مصطلحات موضوعية: Exome Aggregation Consortium, Humans, Rare Diseases, Proteome, Sample Size, DNA Mutational Analysis, Phenotype, Genetic Variation, Exome, Datasets as Topic, Clinical Research, Biotechnology, Human Genome, Genetics, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/04j4327s
https://escholarship.org/content/qt04j4327s/qt04j4327s.pdf

المؤلفون: Pathak, Gita A., Karjalainen, Juha, Stevens, Christine, Neale, Benjamin M., Daly, Mark, Ganna, Andrea, Andrews, Shea J., Kanai, Masahiro, Cordioli, Mattia, Polimanti, Renato, Harerimana, Nadia, Pirinen, Matti, Liao, Rachel G., Chwialkowska, Karolina, Trankiem, Amy, Balaconis, Mary K., Nguyen, Huy, Solomonson, Matthew, Veerapen, Kumar, Wolford, Brooke, Roberts, Genevieve, Park, Danny, Ball, Catherine A., Coignet, Marie, McCurdy, Shannon, Knight, Spencer, Partha, Raghavendran, Rhead, Brooke, Zhang, Miao, Berkowitz, Nathan, Gaddis, Michael, Noto, Keith, Ruiz, Luong, Pavlovic, Milos, Hong, Eurie L., Rand, Kristin, Girshick, Ahna, Guturu, Harendra, Baltzell, Asher Haug, Niemi, Mari E. K., Rahmouni, Souad, Guntz, Julien, Beguin, Yves, Pigazzini, Sara, Nkambule, Lindokuhle, Georges, Michel, Moutschen, Michel, Misset, Benoît, Darcis, Gilles, Guiot, Julien, AZARZAR, Samira, Gofflot, Stéphanie, Claassen, Sabine, Malaise, Olivier, Huynen, Pascale, Meuris, Christelle, THYS, Marie, Jacques, Jessica, Léonard, Philippe, Frippiat, Frédéric, Giot, Jean-Baptiste, Sauvage, Anne-Sophie, Frenckell, Christian Von, Belhaj, Yasmine, Lambermont, Bernard, Nakanishi, Tomoko, Morrison, David R., Mooser, Vincent, Richards, J. Brent, Butler-Laporte, Guillaume, Forgetta, Vincenzo, Li, Rui, Ghosh, Biswarup, Laurent, Laetitia, Belisle, Alexandre, Henry, Danielle, Abdullah, Tala, Adeleye, Olumide, Mamlouk, Noor, Kimchi, Nofar, Afrasiabi, Zaman, Rezk, Nardin, Vulesevic, Branka, Bouab, Meriem, Guzman, Charlotte, Petitjean, Louis, Tselios, Chris, Xue, Xiaoqing, Afilalo, Jonathan, Afilalo, Marc, Oliveira, Maureen, Brenner, Bluma, Brassard, Nathalie, Durand, Madeleine, Schurr, Erwin, Lepage, Pierre, Ragoussis, Jiannis, Auld, Daniel, Chassé, Michaël, Kaufmann, Daniel E., Lathrop, G. Mark, Adra, Darin, Hayward, Caroline, Glessner, Joseph T., Shaw, Douglas M., Campbell, Archie, Morris, Marcela, Hakonarson, Hakon, Porteous, David J., Below, Jennifer, Richmond, Anne, Chang, Xiao, Polikowski, Hannah, Lauren, Petty E., Chen, Hung-Hsin, Wanying, Zhu, Fawns-Ritchie, Chloe, North, Kari, McCormick, Joseph B., Glessner, Joseph R., Gignoux, Christopher R., Wicks, Stephen J., Crooks, Kristy, Barnes, Kathleen C., Daya, Michelle, Shortt, Jonathan, Rafaels, Nicholas, Chavan, Sameer, Timmers, Paul R. H. J., Wilson, James F., Tenesa, Albert, Kerr, Shona M., D’Mellow, Kenton, Shahin, Doaa, El-Sherbiny, Yasser M., von Hohenstaufen, Kathrin Aprile, Sobh, Ali, Eltoukhy, Madonna M., Nkambul, Lindokuhle, Elhadidy, Tamer A., Abd Elghafar, Mohamed S., El-Jawhari, Jehan J., Mohamed, Attia A. S., Elnagdy, Marwa H., Samir, Amr, Abdel-Aziz, Mahmoud, Khafaga, Walid T., El-Lawaty, Walaa M., Torky, Mohamed S., El-shanshory, Mohamed R., Yassen, Amr M., Hegazy, Mohamed A. F., Okasha, Kamal, Eid, Mohammed A., Moahmed, Hanteera S., Medina-Gomez, Carolina, Ikram, M. Arfan, Uitterlinden, Andre G., Mägi, Reedik, Milani, Lili, Metspalu, Andres, Laisk, Triin, Läll, Kristi, Lepamets, Maarja, Esko, Tõnu, Reimann, Ene, Naaber, Paul, Laane, Edward, Pesukova, Jaana, Peterson, Pärt, Kisand, Kai, Tabri, Jekaterina, Allos, Raili, Hensen, Kati, Starkopf, Joel, Ringmets, Inge, Tamm, Anu, Kallaste, Anne, Alavere, Helene, Metsalu, Kristjan, Puusepp, Mairo, Batini, Chiara, Tobin, Martin D., Venn, Laura D., Lee, Paul H., Shrine, Nick, Williams, Alexander T., Guyatt, Anna L., John, Catherine, Packer, Richard J., Ali, Altaf, Free, Robert C., Wang, Xueyang, Wain, Louise V., Hollox, Edward J., Bee, Catherine E., Adams, Emma L., Palotie, Aarno, Ripatti, Samuli, Ruotsalainen, Sanni, Kristiansson, Kati, Koskelainen, Sami, Perola, Markus, Donner, Kati, Kivinen, Katja, Kaunisto, Mari, Rivolta, Carlo, Bochud, Pierre-Yves, Bibert, Stéphanie, Boillat, Noémie, Nussle, Semira Gonseth, Albrich, Werner, Quinodoz, Mathieu, Kamdar, Dhryata, Suh, Noémie, Neofytos, Dionysios, Erard, Véronique, Voide, Cathy, Friolet, R., Vollenweider, P., Pagani, J. L., Oddo, M., zu Bentrup, F. Meyer, Conen, A., Clerc, O., MARCHETTI, Oreste, Guillet, A., Guyat-Jacques, C., Foucras, S., Rime, M., Chassot, J., Jaquet, M., Viollet, R. Merlet, Lannepoudenx, Y., Portopena, L., Bochud, P. Y., Desgranges, F., Filippidis, P., Guéry, B., Haefliger, D., Kampouri, E. E., Manuel, O., Munting, A., Papadimitriou-Olivgeris, M., Regina, J., Rochat-Stettler, L., Suttels, V., Tadini, E., Tschopp, J., Van Singer, M., Viala, B., Boillat-Blanco, N., Brahier, T., Hügli, O., Meuwly, J. Y., Pantet, O., Gonseth Nussle, S., Bochud, M., D’Acremont, V., Estoppey Younes, S., Albrich, W. C., Suh, N., Cerny, A., O’Mahony, L., von Mering, C., Frischknecht, M., Kleger, G-R., Filipovic, M., Kahlert, C. R., Wozniak, H., Negro, T. Rochat, Pugin, J., Bouras, K., Knapp, C., Egger, T., Perret, A., Montillier, P., di Bartolomeo, C., Barda, B., de Cid, Rafael, Carreras, Anna, Moreno, Victor, Kogevinas, Manolis, Galván-Femenía, Iván, Blay, Natalia, Farré, Xavier, Sumoy, Lauro, Cortés, Beatriz, Mercader, Josep Maria, Guindo-Martinez, Marta, Torrents, David, Garcia-Aymerich, Judith, Castaño-Vinyals, Gemma, Dobaño, Carlota, Gori, Marco, Renieri, Alessandra, Mari, Francesca, Mondelli, Mario Umberto, Castelli, Francesco, Vaghi, Massimo, Rusconi, Stefano, Montagnani, Francesca, Bargagli, Elena, Franchi, Federico, Mazzei, Maria Antonietta, Cantarini, Luca, Tacconi, Danilo, Feri, Marco, Scala, Raffaele, Spargi, Genni, Nencioni, Cesira, Bandini, Maria, Caldarelli, Gian Piero, Canaccini, Anna, Ognibene, Agostino, D’Arminio Monforte, Antonella, Girardis, Massimo, Antinori, Andrea, Francisci, Daniela, Schiaroli, Elisabetta, Scotton, Pier Giorgio, Panese, Sandro, Scaggiante, Renzo, Monica, Matteo Della, Capasso, Mario, Fiorentino, Giuseppe, Castori, Marco, Aucella, Filippo, Biagio, Antonio Di, Masucci, Luca, Valente, Serafina, Mandalà, Marco, Zucchi, Patrizia, Giannattasio, Ferdinando, Coviello, Domenico A., Mussini, Cristina, Tavecchia, Luisa, Crotti, Lia, Rizzi, Marco, Rovere, Maria Teresa La, Sarzi-Braga, Simona, Bussotti, Maurizio, Ravaglia, Sabrina, Artuso, Rosangela, Perrella, Antonio, Romani, Davide, Bergomi, Paola, Catena, Emanuele, Vincenti, Antonella, Ferri, Claudio, Grassi, Davide, Pessina, Gloria, Tumbarello, Mario, Pietro, Massimo Di, Sabrina, Ravaglia, Luchi, Sauro, Furini, Simone, Dei, Simona, Benetti, Elisa, Picchiotti, Nicola, Sanarico, Maurizio, Ceri, Stefano, Pinoli, Pietro, Raimondi, Francesco, Biscarini, Filippo, Stella, Alessandra, Zguro, Kristina, Capitani, Katia, Tanfoni, Marco, Fallerini, Chiara, Daga, Sergio, Baldassarri, Margherita, Fava, Francesca, Frullanti, Elisa, Valentino, Floriana, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Pinto, Anna Maria, Beligni, Giada, Tommasi, Andrea, Sarno, Laura Di, Palmieri, Maria, Carriero, Miriam Lucia, Alaverdian, Diana, Busani, Stefano, Bruno, Raffaele, Vecchia, Marco, Belli, Mary Ann, Mantovani, Stefania, Ludovisi, Serena, Quiros-Roldan, Eugenia, Antoni, Melania Degli, Zanella, Isabella, Siano, Matteo, Emiliozzi, Arianna, Fabbiani, Massimiliano, Rossetti, Barbara, Bergantini, Laura, D’Alessandro, Miriana, Cameli, Paolo, Bennett, David, Anedda, Federico, Marcantonio, Simona, Scolletta, Sabino, Guerrini, Susanna, Conticini, Edoardo, Frediani, Bruno, Spertilli, Chiara, Donati, Alice, Guidelli, Luca, Corridi, Marta, Croci, Leonardo, Piacentini, Paolo, Desanctis, Elena, Cappelli, Silvia, Verzuri, Agnese, Anemoli, Valentina, Pancrazzi, Alessandro, Lorubbio, Maria, Miraglia, Federica Gaia, Venturelli, Sophie, Cossarizza, Andrea, Vergori, Alessandra, Gabrieli, Arianna, Riva, Agostino, Paciosi, Francesco, Andretta, Francesca, Gatti, Francesca, Parisi, Saverio Giuseppe, Baratti, Stefano, Piscopo, Carmelo, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille, Carella, Massimo, Merla, Giuseppe, Squeo, Gabriella Maria, Raggi, Pamela, Marciano, Carmen, Perna, Rita, Bassetti, Matteo, Sanguinetti, Maurizio, Giorli, Alessia, Salerni, Lorenzo, Parravicini, Pierpaolo, Menatti, Elisabetta, Trotta, Tullio, Coiro, Gabriella, Lena, Fabio, Martinelli, Enrico, Mancarella, Sandro, Gabbi, Chiara, Maggiolo, Franco, Ripamonti, Diego, Bachetti, Tiziana, Suardi, Claudia, Parati, Gianfranco, Bottà, Giordano, Domenico, Paolo Di, Rancan, Ilaria, Bianchi, Francesco, Colombo, Riccardo, Barbieri, Chiara, Acquilini, Donatella, Andreucci, Elena, Segala, Francesco Vladimiro, Tiseo, Giusy, Falcone, Marco, Lista, Mirjam, Poscente, Monica, Vivo, Oreste De, Petrocelli, Paola, Guarnaccia, Alessandra, Baroni, Silvia, van Heel, David A., Hunt, Karen A., Trembath, Richard C., Huang, Qin Qin, Martin, Hilary C., Mason, Dan, Trivedi, Bhavi, Wright, John, Finer, Sarah, Akhtar, Shaheen, Anwar, Mohammad, Arciero, Elena, Ashraf, Samina, Breen, Gerome, Chung, Raymond, Curtis, Charles J., Chowdhury, Maharun, Colligan, Grainne, Deloukas, Panos, Durham, Ceri, Griffiths, Chris, Hurles, Matt, Hussain, Shapna, Islam, Kamrul, Khan, Ahsan, Khan, Amara, Lavery, Cath, Lee, Sang Hyuck, Lerner, Robin, MacArthur, Daniel, MacLaughlin, Bev, Martin, Hilary, Miah, Shefa, Newman, Bill, Safa, Nishat, Tahmasebi, Farah, Griffiths, Christopher J., Smith, Albert V., Boughton, Andrew P., Li, Kevin W., LeFaive, Jonathon, Annis, Aubrey, Niavarani, Ahmadreza, Aliannejad, Rasoul, Sharififard, Bahareh, Amirsavadkouhi, Ali, Naderpour, Zeinab, Tadi, Hengameh Ansari, Aleagha, Afshar Etemadi, Ahmadi, Saeideh, Moghaddam, Seyed Behrooz Mohseni, Adamsara, Alireza, Saeedi, Morteza, Abdollahi, Hamed, Hosseini, Abdolmajid, Chariyavilaskul, Pajaree, Jantarabenjakul, Watsamon, Hirankarn, Nattiya, Chamnanphon, Monpat, Suttichet, Thitima B., Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat, Chetruengchai, Wanna, Putchareon, Opass, Torvorapanit, Pattama, Puthanakit, Thanyawee, Suchartlikitwong, Pintip, Nilaratanakul, Voraphoj, Sodsai, Pimpayao, Brumpton, Ben M., Hveem, Kristian, Willer, Cristen, Zhou, Wei, Rogne, Tormod, Solligard, Erik, Åsvold, Bjørn Olav, Franke, Lude, Boezen, Marike, Deelen, Patrick, Claringbould, Annique, Lopera, Esteban, Warmerdam, Robert, Vonk, Judith. M., van Blokland, Irene, Lanting, Pauline, Ori, Anil P. S., Feng, Yen-Chen Anne, Mercader, Josep, Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan W., Murphy, Shawn N., Meigs, James B., Woolley, Ann E., Green, Robert C., Perez, Emma F., Zöllner, Sebastian, Wang, Jiongming, Beck, Andrew, Sloofman, Laura G., Ascolillo, Steven, Sebra, Robert P., Collins, Brett L., Levy, Tess, Buxbaum, Joseph D., Sealfon, Stuart C., Jordan, Daniel M., Thompson, Ryan C., Gettler, Kyle, Chaudhary, Kumardeep, Belbin, Gillian M., Preuss, Michael, Hoggart, Clive, Choi, Sam, Underwood, Slayton J., Salib, Irene, Britvan, Bari, Keller, Katherine, Tang, Lara, Peruggia, Michael, Hiester, Liam L., Niblo, Kristi, Aksentijevich, Alexandra, Labkowsky, Alexander, Karp, Avromie, Zlatopolsky, Menachem, Zyndorf, Marissa, Charney, Alexander W., Beckmann, Noam D., Schadt, Eric E., Abul-Husn, Noura S., Cho, Judy H., Itan, Yuval, Kenny, Eimear E., Loos, Ruth J. F., Nadkarni, Girish N., Do, Ron, O’Reilly, Paul, Huckins, Laura M., Ferreira, Manuel A. R., Abecasis, Goncalo R., Leader, Joseph B., Cantor, Michael N., Justice, Anne E., Carey, Dave J., Chittoor, Geetha, Josyula, Navya Shilpa, Kosmicki, Jack A., Horowitz, Julie E., Baras, Aris, Gass, Matthew C., Yadav, Ashish, Mirshahi, Tooraj, Hottenga, Jouke Jan, Bartels, Meike, de geus, Eco E. J. C., Nivard, Michel M. G., Verma, Anurag, Ritchie, Marylyn D., Rader, Daniel, Li, Binglan, Verma, Shefali S., Lucas, Anastasia, Bradford, Yuki, Abedalthagafi, Malak, Alaamery, Manal, Alshareef, Abdulraheem, Sawaji, Mona, Massadeh, Salam, AlMalik, Abdulaziz, Alqahtani, Saleh, Baraka, Dona, Harthi, Fawz Al, Alsolm, Ebtehal, Safieh, Leen Abu, Alowayn, Albandary M., Alqubaishi, Fatimah, Mutairi, Amal Al, Mangul, Serghei, Almutairi, Mansour, Aljawini, Nora, Albesher, Nour, Arabi, Yaseen M., Mahmoud, Ebrahim S., Khattab, Amin K., Halawani, Roaa T., Alahmadey, Ziab Z., Albakri, Jehad K., Felemban, Walaa A., Suliman, Bandar A., Hasanato, Rana, Al-Awdah, Laila, Alghamdi, Jahad, AlZahrani, Deema, AlJohani, Sameera, Al-Afghani, Hani, AlDhawi, Nouf, AlBardis, Hadeel, Alkwai, Sarah, Alswailm, Moneera, Almalki, Faisal, Albeladi, Maha, Almohammed, Iman, Barhoush, Eman, Albader, Anoud, Alotaibi, Sara, Alghamdi, Bader, Jung, Junghyun, fawzy, Mohammad S., Alrashed, May, Zeberg, Hugo, Nkambul, Lindo, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Tardif, Nicolas, Rooyackers, Olav, Grip, Jonathan, Maricic, Tomislav, Helgeland, Øyvind, Magnus, Per, Trogstad, Lill-Iren S., Lee, Yunsung, Harris, Jennifer R., Mangino, Massimo, Spector, Tim D., Emma, Duncan, Moutsianas, Loukas, Caulfield, Mark J., Scott, Richard H., Kousathanas, Athanasios, Pasko, Dorota, Walker, Susan, Stuckey, Alex, Odhams, Christopher A., Rhodes, Daniel, Fowler, Tom, Rendon, Augusto, Chan, Georgia, Arumugam, Prabhu, Karczewski, Konrad J., Martin, Alicia R., Wilson, Daniel J., Spencer, Chris C. A., Crook, Derrick W., Wyllie, David H., O’Connell, Anne Marie, Atkinson, Elizabeth G., Tsuo, Kristin, Baya, Nikolas, Turley, Patrick, Gupta, Rahul, Walters, Raymond K., Palmer, Duncan S., Sarma, Gopal, Cheng, Nathan, Lu, Wenhan, Churchhouse, Claire, Goldstein, Jacqueline I., King, Daniel, Seed, Cotton, Daly, Mark J., Finucane, Hilary, Bryant, Sam, Satterstrom, F. Kyle, Band, Gavin, Earle, Sarah G., Lin, Shang-Kuan, Arning, Nicolas, Koelling, Nils, Armstrong, Jacob, Rudkin, Justine K., Callier, Shawneequa, Cusick, Caroline, Soranzo, Nicole, Zhao, Jing Hua, Danesh, John, Angelantonio, Emanuele Di, Butterworth, Adam S., Sun, Yan V., Huffman, Jennifer E., Cho, Kelly, O’Donnell, Christopher J., Tsao, Phil, Gaziano, J. 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Eric, Baillie, J. Kenneth

المصدر: Nature, 608, E1-E10 (2022-08-03)

مصطلحات موضوعية: Human health sciences, Immunology & infectious disease, Sciences de la santé humaine, Immunologie & maladie infectieuse

Relation: https://www.nature.com/articles/s41586-022-04826-7.pdf; 10.1038/s41586-022-04826-7; urn:issn:0028-0836; urn:issn:1476-4687

URL الوصول: https://orbi.uliege.be/handle/2268/294295

المؤلفون: Sivapalasingam, Sumathi, Lederer, David J., Bhore, Rafia, Hajizadeh, Negin, Criner, Gerard, Hosain, Romana, Mahmood, Adnan, Giannelou, Angeliki, Somersan-Karakaya, Selin, O'Brien, Meagan P., Boyapati, Anita, Parrino, Janie, Musser, Bret J., Labriola-Tompkins, Emily, Ramesh, Divya, Purcell, Lisa A., Gulabani, Daya, Kampman, Wendy, Waldron, Alpana, Ng Gong, Michelle, Saggar, Suraj, Sperber, Steven J., Menon, Vidya, Stein, David K., Sobieszczyk, Magdalena E., Park, William, Aberg, Judith A., Brown, Samuel M., Kosmicki, Jack A., Horowitz, Julie E., Ferreira, Manuel A., Baras, Aris, Kowal, Bari, DiCioccio, A. Thomas, Akinlade, Bolanle, Nivens, Michael C., Braunstein, Ned, Herman, Gary A., Yancopoulos, George D., Weinrich, David M., Criner|0000-0003-1267-3483

المساهمون: Sarilumab-COVID-19 Study Team

مصطلحات موضوعية: Monoclonal antibodies, Interleukin-6 receptor, Hospitalized, COVID-19

وصف الملف: 30 pages

Relation: Oxford University Press; https://doi.org/10.1093/cid/ciac153; Clinical Infectious Diseases; COVID-19 Research; Sumathi Sivapalasingam, David J Lederer, Rafia Bhore, Negin Hajizadeh, Gerard Criner, Romana Hosain, Adnan Mahmood, Angeliki Giannelou, Selin Somersan-Karakaya, Meagan P O’Brien, Anita Boyapati, Janie Parrino, Bret J Musser, Emily Labriola-Tompkins, Divya Ramesh, Lisa A Purcell, Daya Gulabani, Wendy Kampman, Alpana Waldron, Michelle Ng Gong, Suraj Saggar, Steven J Sperber, Vidya Menon, David K Stein, Magdalena E Sobieszczyk, William Park, Judith A Aberg, Samuel M Brown, Jack A Kosmicki, Julie E Horowitz, Manuel A Ferreira, Aris Baras, Bari Kowal, A Thomas DiCioccio, Bolanle Akinlade, Michael C Nivens, Ned Braunstein, Gary A Herman, George D Yancopoulos, David M Weinreich, Sarilumab-COVID-19 Study Team, Efficacy and Safety of Sarilumab in Hospitalized Patients With COVID-19: A Randomized Clinical Trial, Clinical Infectious Diseases, 2022;, ciac153.; http://hdl.handle.net/20.500.12613/7558

الاتاحة: https://hdl.handle.net/20.500.12613/7558

المؤلفون: 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, Abecasis, Gonçalo, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Karalis, Katia, Lotta, Luca A., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua

المصدر: Nature Genetics ; volume 54, issue 4, page 382-392 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/s41588-021-01006-7
https://www.nature.com/articles/s41588-021-01006-7.pdf
https://www.nature.com/articles/s41588-021-01006-7

المؤلفون: Sivapalasingam, Sumathi, Lederer, David J, Bhore, Rafia, Hajizadeh, Negin, Criner, Gerard, Hosain, Romana, Mahmood, Adnan, Giannelou, Angeliki, Somersan-Karakaya, Selin, O’Brien, Meagan P, Boyapati, Anita, Parrino, Janie, Musser, Bret J, Labriola-Tompkins, Emily, Ramesh, Divya, Purcell, Lisa A, Gulabani, Daya, Kampman, Wendy, Waldron, Alpana, Ng Gong, Michelle, Saggar, Suraj, Sperber, Steven J, Menon, Vidya, Stein, David K, Sobieszczyk, Magdalena E, Park, William, Aberg, Judith A, Brown, Samuel M, Kosmicki, Jack A, Horowitz, Julie E, Ferreira, Manuel A, Baras, Aris, Kowal, Bari, Thomas DiCioccio, A, Akinlade, Bolanle, Nivens, Michael C, Braunstein, Ned, Herman, Gary A, Yancopoulos, George D, Weinreich, David M

المصدر: Clinical Infectious Diseases ; volume 75, issue 1, page e380-e388 ; ISSN 1058-4838 1537-6591

الاتاحة: http://dx.doi.org/10.1093/cid/ciac153
https://academic.oup.com/cid/advance-article-pdf/doi/10.1093/cid/ciac153/43887701/ciac153.pdf
https://academic.oup.com/cid/article-pdf/75/1/e380/45514220/ciac153.pdf

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Mandalà, Marco, Zucchi, Patrizia, Giannattasio, Ferdinando, Coviello, Domenico A., Mussini, Cristina, Bosio, Giancarlo, Tavecchia, Luisa, Crotti, Lia, Rizzi, Marco, La Rovere, Maria Teresa, Sarzi-Braga, Simona, Bussotti, Maurizio, Ravaglia, Sabrina, Artuso, Rosangela, Perrella, Antonio, Romani, Davide, Bergomi, Paola, Catena, Emanuele, Vincenti, Antonella, Ferri, Claudio, Grassi, Davide, Pessina, Gloria, Tumbarello, Mario, Di Pietro, Massimo, Sabrina, Ravaglia, Luchi, Sauro, Barbieri, Chiara, Acquilini, Donatella, Andreucci, Elena, Paciosi, Francesco, Segala, Francesco Vladimiro, Tiseo, Giusy, Falcone, Marco, Lista, Mirjam, Poscente, Monica, De Vivo, Oreste, Petrocelli, Paola, Guarnaccia, Alessandra, Baroni, Silvia, Perticaroli, Valentina, Furini, Simone, Dei, Simona, Benetti, Elisa, Picchiotti, Nicola, Sanarico, Maurizio, Ceri, Stefano, Pinoli, Pietro, Raimondi, Francesco, Biscarini, Filippo, Stella, Alessandra, Bergomi, Mattia, Zguro, Kristina, Capitani, Katia, Tanfoni, Marco, Fallerini, Chiara, Daga, Sergio, Baldassarri, Margherita, Fava, Francesca, Frullanti, Elisa, Valentino, Floriana, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Mencarelli, Maria Antonietta, Lo Rizzo, Caterina, Pinto, Anna Maria, Beligni, Giada, Tommasi, Andrea, Di Sarno, Laura, Palmieri, Maria, Carriero, Miriam Lucia, Alaverdian, Diana, Iuso, Nicola, Inchingolo, Gabriele, Busani, Stefano, Bruno, Raffaele, Vecchia, Marco, Belli, Mary Ann, Mantovani, Stefania, Ludovisi, Serena, Quiros-Roldan, Eugenia, Antoni, Melania Degli, Zanella, Isabella, Siano, Matteo, Emiliozzi, Arianna, Fabbiani, Massimiliano, Rossetti, Barbara, Zanelli, Giacomo, Bergantini, Laura, D’Alessandro, Miriana, Cameli, Paolo, Bennet, David, Anedda, Federico, Marcantonio, Simona, Scolletta, Sabino, Guerrini, Susanna, Conticini, Edoardo, Frediani, Bruno, Spertilli, Chiara, Donati, Alice, Guidelli, Luca, Corridi, Marta, Croci, Leonardo, Piacentini, Paolo, Desanctis, Elena, Cappelli, Silvia, Verzuri, Agnese, Anemoli, Valentina, Pancrazi, Alessandro, Lorubbio, Maria, Merlini, Esther, Miraglia, Federica Gaia, Venturelli, Sophie, Cossarizza, Andrea, Vergori, Alessandra, Gabrieli, Arianna, Riva, Agostino, Andretta, Francesca, Gatti, Francesca, Parisi, Saverio Giuseppe, Baratti, Stefano, Piscopo, Carmelo, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille, Carella, Massimo, Merla, Giuseppe, Squeo, Gabriella Maria, Raggi, Pamela, Marciano, Carmen, Perna, Rita, Bassetti, Matteo, Sanguinetti, Maurizio, Giorli, Alessia, Salerni, Lorenzo, Parravicini, Pierpaolo, Menatti, Elisabetta, Trotta, Tullio, Coiro, Gabriella, Lena, Fabio, Martinelli, Enrico, Mancarella, Sandro, Gabbi, Chiara, Maggiolo, Franco, Ripamonti, Diego, Bachetti, Tiziana, Suardi, Claudia, Parati, Gianfranco, Bottà, Giordano, Di Domenico, Paolo, Rancan, Ilaria, Bianchi, Francesco, Colombo, Riccardo, van Heel, David A., Hunt, Karen A., Trembath, Richard C., Huang, Qin Qin, Martin, Hilary C., Mason, Dan, Trivedi, Bhavi, Wright, John, Finer, Sarah, Griffiths, Christopher J., Akhtar, Shaheen, Anwar, Mohammad, Arciero, Elena, Ashraf, Samina, Breen, Gerome, Chung, Raymond, Curtis, Charles J., Chowdhury, Maharun, Colligan, Grainne, Deloukas, Panos, Durham, Ceri, Griffiths, Chris, Hurles, Matt, Hussain, Shapna, Islam, Kamrul, Khan, Ahsan, Khan, Amara, Lavery, Cath, Lee, Sang Hyuck, Lerner, Robin, MacArthur, Daniel, MacLaughlin, Bev, Martin, Hilary, Miah, Shefa, Newman, Bill, Safa, Nishat, Tahmasebi, Farah, Smith, Albert V., Boughton, Andrew P., Li, Kevin W., LeFaive, Jonathon, Annis, Aubrey, Jannes, Cinthia E., Krieger, Jose E., Pereira, Alexandre C., Velho, Mariliza, Marques, Emanuelle, Lima, Isabella Ramos, Tada, Mauricio Teruo, Valino, Karina, McCarthy, Mark, Rosenberger, Carrie, Lee, Jong Eun, Chang, Diana, Hammer, Christian, Hunkapiller, Julie, Mahajan, Anubha, Pendergrass, Sarah, Sucheston-Campbell, Lara, Yaspan, Brian, Lee, Hyun Soo, Shin, Eunsoon, Jang, Hye Yoon, Kim, Sunmie, Kym, Sungmin, Kim, Yeon-Sook, Jeong, Hyeongseok, Kwon, Ki Tae, Kim, Shin-Woo, Kim, Jin Yong, Jang, Young Rock, Kim, Hyun ah, Lee, Ji Yeon, Lee, Jeong Eun, Lee, Shinwon, Choe, Kang-Won, Kang, Yu Min, Jee, Sun Ha, Jung, Keum Ji, Parikh, Victoria, Ashley, Euan, Wheeler, Matthew, Rivas, Manuel, Bustamante, Carlos, Pinksy, Benjamin, Febbo, Phillip, Farh, Kyle, Schroth, Gary P., deSouza, Francis, Dalton, Karen, Christle, Jeff, Deboever, Christopher, Szalma, Sándor, Rubinacci, Simone, Delaneau, Olivier, Gorzynski, John, de Jong, Hannah, Sutton, Shirley, Youlton, Nathan, Joshi, Ruchi, Jimenez-Morales, David, Hughes, Christopher, Amar, David, Ioannidis, Alex, Hershman, Steve, Kirillova, Anna, Seo, Kinya, Huang, Yong, Shoura, Massa, Hammond, Nathan, Watson, Nathaniel, Raja, Archana, Huang, ChunHong, Sahoo, Malaya, Wang, Hannah, Zhen, Jimmy, Rakitko, Alexander, Ilinsky, Valery, Yermakovich, Danat, Popov, Iaroslav, Chernitsov, Alexander, Kovalenko, Elena, Krasnenko, Anna, Plotnikov, Nikolay, Stetsenko, Ivan, Kim, Anna, Cirulli, Elizabeth T., Schiabor Barrett, Kelly M., Bolze, Alexandre, White, Simon, Washington, Nicole L., Lu, James T., Riffle, Stephen, Tanudjaja, Francisco, Wang, Xueqing, Ramirez, Jimmy M., Leonetti, Nicole, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Grzymski, Joseph J., Esteban Miñano, Juan Ignacio, Aguirre, Luis A., López-Collazo, Eduardo, de la Mata Pazos, Manuel, Cerrato, Luciano, Lozano-Rodríguez, Roberto, Avendaño-Ortiz, José, Arcos, Verónica Terrón, Montalbán-Hernández, Karla Marina, Quiroga, Jaime Valentín, Pascual-Iglesias, Alejandro, Maroun-Eid, Charbel, Martín-Quirós, Alejandro, Namkoong, Ho, Imoto, Seiya, Katayama, Kazuhiko, Fukunaga, Koichi, Kitagawa, Yuko, Sato, Toshiro, Hasegawa, Naoki, Kumanogoh, Atsushi, Kimura, Akinori, Ai, Masumi, Tokunaga, Katsushi, Kanai, Takanori, Miyano, Satoru, Ogawa, Seishi, Edahiro, Ryuya, Sonehara, Kyuto, Shirai, Yuya, Ishii, Makoto, Kabata, Hiroki, Masaki, Katsunori, Kamata, Hirofumi, Ikemura, Shinnosuke, Chubachi, Shotaro, Okamori, Satoshi, Terai, Hideki, Tanaka, Hiromu, Morita, Atsuho, Lee, Ho, Asakura, Takanori, Sasaki, Junichi, Morisaki, Hiroshi, Uwamino, Yoshifumi, Nanki, Kosaku, Mikami, Yohei, Tomono, Kazunori, Kato, Kazuto, Matsuda, Fumihiko, Takahashi, Meiko, Hizawa, Nobuyuki, Takeda, Yoshito, Hirata, Haruhiko, Shiroyama, Takayuki, Miyawaki, Satoru, Suzuki, Ken, Maeda, Yuichi, Nii, Takuro, Noda, Yoshimi, Niitsu, Takayuki, Adachi, Yuichi, Enomoto, Takatoshi, Amiya, Saori, Hara, Reina, Takahashi, Kunihiko, Anzai, Tatsuhiko, Hasegawa, Takanori, Ito, Satoshi, Koike, Ryuji, Endo, Akifumi, Uchimura, Yuji, Miyazaki, Yasunari, Honda, Takayuki, Tateishi, Tomoya, Tohda, Shuji, Ichimura, Naoya, Sonobe, Kazunari, Sassa, Chihiro, Nakajima, Jun, Nannya, Yasuhito, Omae, Yosuke, Takahashi, Kazuhisa, Harada, Norihiro, Hiki, Makoto, Takagi, Haruhi, Nakamura, Ai, Tagaya, Etsuko, Kawana, Masatoshi, Arimura, Ken, Ishiguro, Takashi, Takayanagi, Noboru, Isono, Taisuke, Takaku, Yotaro, Takano, Kenji, Anan, Ryusuke, Nakajima, Yukiko, Nakano, Yasushi, Nishio, Kazumi, Ueda, Soichiro, Hayashi, Reina, Tateno, Hiroki, Hase, Isano, Yoshida, Shuichi, Suzuki, Shoji, Mitamura, Keiko, Saito, Fumitake, Ueda, Tetsuya, Azuma, Masanori, Nagasaki, Tadao, Yasui, Yoshinori, Hasegawa, Yoshinori, Mutoh, Yoshikazu, Yoshiyama, Takashi, Shoko, Tomohisa, Kojima, Mitsuaki, Adachi, Tomohiro, Ishikawa, Motonao, Takahashi, Kenichiro, Watanabe, Kazuyoshi, Manabe, Tadashi, Ito, Fumimaro, Fukui, Takahiro, Funatsu, Yohei, Koh, Hidefumi, Hirai, Yoshihiro, Kawashima, Hidetoshi, Narita, Atsuya, Niwa, Kazuki, Sekikawa, Yoshiyuki, Saito, Fukuki, Yoshiya, Kazuhisa, Yoshihara, Tomoyuki, Suzuki, Yusuke, Nakayama, Sohei, Masuzawa, Keita, Nishi, Koichi, Nishitsuji, Masaru, Tani, Maiko, Inoue, Takashi, Hirano, Toshiyuki, Kobayashi, Keigo, Miyazawa, Naoki, Kimura, Yasuhiro, Sado, Reiko, Ogura, Takashi, Kitamura, Hideya, Murohashi, Kota, Nakachi, Ichiro, Baba, Rie, Arai, Daisuke, Fuke, Satoshi, Saito, Hiroshi, Kuwahara, Naota, Fujiwara, Akiko, Okada, Takenori, Baba, Tomoya, Noda, Junya, Mashimo, Shuko, Yagi, Kazuma, Shiomi, Tetsuya, Hashiguchi, Mizuha, Odani, Toshio, Mochimaru, Takao, Oyamada, Yoshitaka, Mori, Nobuaki, Izumi, Namiki, Nagata, Kaoru, Taki, Reiko, Murakami, Koji, Yamada, Mitsuhiro, Sugiura, Hisatoshi, Hayashi, Kentaro, Shimizu, Tetsuo, Gon, Yasuhiro, Fujitani, Shigeki, Tsuchida, Tomoya, Yoshida, Toru, Kagaya, Takashi, Kita, Toshiyuki, Sakagami, Satoru, Kimizuka, Yoshifumi, Kawana, Akihiko, Nakamura, Yoshihiko, Ishikura, Hiroyasu, Takata, Tohru, Kikuchi, Takahide, Taniyama, Daisuke, Nakamura, Morio, Kodama, Nobuhiro, Kaneyama, Yasunari, Maeda, Shunsuke, Nagasaki, Yoji, Okamoto, Masaki, Ishihara, Sayoko, Ito, Akihiro, Chihara, Yusuke, Takeuchi, Mayumi, Onoi, Keisuke, Hashimoto, Naozumi, Wakahara, Keiko, Ando, Akira, Masuda, Makoto, Wakabayashi, Aya, Watanabe, Hiroki, Sageshima, Hisako, Nakada, Taka-Aki, Abe, Ryuzo, Shimada, Tadanaga, Kawamura, Kodai, Ichikado, Kazuya, Nishiyama, Kenta, Yamasaki, Masaki, Hashimoto, Satoru, Kusaka, Yu, Ohba, Takehiko, Isogai, Susumu, Takada, Minoru, Kanda, Hidenori, Komase, Yuko, Sano, Fumiaki, Asano, Koichiro, Oguma, Tsuyoshi, Harada, Masahiro, Takahashi, Takeshi, Shibusawa, Takayuki, Abe, Shinji, Kono, Yuta, Togashi, Yuki, Izumo, Takehiro, Inomata, Minoru, Awano, Nobuyasu, Ogawa, Shinichi, Ogata, Tomouki, Ishihara, Shoichiro, Kanehiro, Arihiko, Ozaki, Shinji, Fuchimoto, Yasuko, Kitagawa, Yuichiro, Yoshida, Shozo, Ogura, Shinji, Nishiyama, Kei, Yoshida, Kousuke, Beppu, Satoru, Fukuyama, Satoru, Eriguchi, Yoshihiro, Yonekawa, Akiko, Inoue, Yoshiaki, Yamagata, Kunihiro, Chiba, Shigeru, Narumoto, Osamu, Nagai, Hideaki, Ooshima, Nobuharu, Motegi, Mitsuru, Sagara, Hironori, Tanaka, Akihiko, Ohta, Shin, Shibata, Yoko, Tanino, Yoshinori, Sato, Yuki, Yamada, Yuichiro, Hashino, Takuya, Shinoki, Masato, Iwagoe, Hajime, Imamura, Tomonori, Umeda, Akira, Shimada, Hisato, Endo, Mayu, Hayashi, Shinichi, Takahashi, Mai, Nakano, Shigefumi, Yatomi, Masakiyo, Maeno, Toshitaka, Ishii, Tomoo, Utsugi, Mitsuyoshi, Ono, Akihiro, Kanaoka, Kensuke, Ihara, Shoichi, Komuta, Kiyoshi, Boezen, Marike, Claringbould, Annique, Lopera, Esteban, Warmerdam, Robert, Vonk, Judith. M., van Blokland, Irene, Lanting, Pauline, Ori, Anil P. S., Obeidat, Ma’en, Hernández Cordero, Ana I., Sin, Don D., Bossé, Yohan, Joubert, Philippe, Hao, Ke, Nickle, David, Timens, Wim, van den Berge, Maarten, Feng, Yen-Chen Anne, Mercader, Josep, Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan, Murphy, Shawn N., Meigs, James B., Woolley, Ann E., Green, Robert C., Perez, Emma F., Zöllner, Sebastian, Wang, Jiongming, Beck, Andrew, Sloofman, Laura G., Ascolillo, Steven, Sebra, Robert P., Collins, Brett L., Levy, Tess, Sealfon, Stuart C., Jordan, Daniel M., Thompson, Ryan C., Gettler, Kyle, Chaudhary, Kumardeep, Belbin, Gillian M., Preuss, Michael, Hoggart, Clive, Choi, Sam, Underwood, Slayton J., Salib, Irene, Britvan, Bari, Keller, Katherine, Tang, Lara, Peruggia, Michael, Hiester, Liam L., Niblo, Kristi, Aksentijevich, Alexandra, Labkowsky, Alexander, Karp, Avrohom, Zlatopolsky, Menachem, Zyndorf, Marissa, Charney, Alexander W., Beckmann, Noam D., Schadt, Eric E., Abul-Husn, Noura S., Cho, Judy H., Itan, Yuval, Kenny, Eimear E., Loos, Ruth J. F., Nadkarni, Girish N., Do, Ron, O’Reilly, Paul, Huckins, Laura M., Ferreira, Manuel A. R., Abecasis, Goncalo R., Leader, Joseph B., Cantor, Michael N., Justice, Anne E., Carey, Dave J., Chittoor, Geetha, Josyula, Navya Shilpa, Kosmicki, Jack A., Horowitz, Julie E., Baras, Aris, Gass, Matthew C., Yadav, Ashish, Mirshahi, Tooraj, Jan Hottenga, Jouke, Bartels, Meike, de Geus, Eco J. C., Nivard, Michel G., Verma, Anurag, Ritchie, Marylyn D., Rader, Daniel, Li, Binglan, Verma, Shefali S., Lucas, Anastasia, Bradford, Yuki, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Iacomino, Michele, Scudieri, Paolo, Bocciardi, Renata, Minetti, Carlo, Riva, Antonella, Vari, Maria Stella, Rahier, Jean-François, Giorgio, Elisa, Carli, Diana, Louis, Edouad, Bulik, Cynthia M., Landén, Mikael, Brusco, Alfredo, Ferrero, Giovanni Battista, Madia, Francesca, Fundín, Bengt, Ismail, Said I., Saad, Chadi, Al-Sarraj, Yaser, Badji, Radja Messai, Al-Muftah, Wadha, Al Thani, Asma, Afifi, Nahla, Klovins, Janis, Rovite, Vita, Rescenko, Raimonds, Peculis, Raitis, Ustinova, Monta, Zeberg, Hugo, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Johnson, Ruth, Geschwind, Daniel H., Freimer, Nelson B., Butte, Manish J., Ding, Yi, Chiu, Alec, Chang, Timothy S., Boutros, Paul, Moutsianas, Loukas, Caulfield, Mark J., Scott, Richard H., Walker, Susan, Stuckey, Alex, Odhams, Christopher A., Rhodes, Daniel, Fowler, Tom, Rendon, Augusto, Chan, Georgia, Arumugam, Prabhu, Karczewski, Konrad J., Wilson, Daniel J., Spencer, Chris A., Crook, Derrick W., Wyllie, David H., O’Connell, Anne Marie, Atkinson, Elizabeth G., Tsuo, Kristin, Baya, Nikolas, Turley, Patrick, Gupta, Rahul, Walters, Raymond K., Palmer, Duncan S., Sarma, Gopal, Cheng, Nathan, Lu, Wenhan, Churchhouse, Claire, Goldstein, Jacqueline I., King, Daniel, Seed, Cotton, Daly, Mark J., Bryant, Sam, Satterstrom, F. Kyle, Band, Gavin, Earle, Sarah G., Lin, Shang-Kuan, Arning, Nicolas, Armstrong, Jacob, Rudkin, Justine K., Callier, Shawneequa, Cusick, Caroline, Soranzo, Nicole, Zhao, Jing Hua, Danesh, John, Di Angelantonio, Emanuele, Butterworth, Adam S., Sun, Yan V., Huffman, Jennifer E., Cho, Kelly, O’Donnell, Christopher J., Tsao, Phil, Gaziano, J. Michael, Peloso, Gina, Ho, Yuk-Lam, Mian, Michael, Scaggiante, Federica, Chang, Xiao, Glessner, Joseph R., Hakonarson, Hakon, McGuigan, Peter J., Prockter Moore, Luke Stephen, Vizcaychipi, Marcela Paola, Hall, Kathryn, Campbell, Andy, Nichol, Ailstair, Ward, Geraldine, Page, Valerie Joan, Semple, Malcolm G., Adeniji, Kayode, Agranoff, Daniel, Agwuh, Ken, Ail, Dhiraj, Aldera, Erin L., Alegria, Ana, Angus, Brian, Ashish, Abdul, Atkinson, Dougal, Bari, Shahedal, Barlow, Gavin, Barnass, Stella, Barrett, Nicholas, Bassford, Christopher, Basude, Sneha, Baxter, David, Beadsworth, Michael, Bernatoniene, Jolanta, Berridge, John, Best, Nicola, Bothma, Pieter, Chadwick, David, Brittain-Long, Robin, Bulteel, Naomi, Burden, Tom, Burtenshaw, Andrew, Caruth, Vikki, Chambler, Duncan, Chee, Nigel, Child, Jenny, Chukkambotla, Srikanth, Clark, Tom, Collini, Paul, Cosgrove, Catherine, Cupitt, Jason, Cutino-Moguel, Maria-Teresa, Dark, Paul, Dawson, Chris, Dervisevic, Samir, Donnison, Phil, Douthwaite, Sam, Drummond, Andrew, DuRand, Ingrid, Dushianthan, Ahilanadan, Dyer, Tristan, Evans, Cariad, Eziefula, Chi, Fegan, Christopher, Finn, Adam, Fullerton, Duncan, Garg, Sanjeev, Garg, Atul, Gkrania-Klotsas, Effrossyni, Godden, Jo, Goldsmith, Arthur, Graham, Clive, Hardy, Elaine, Hartshorn, Stuart, Harvey, Daniel, Havalda, Peter, Hawcutt, Daniel B., Hobrok, Maria, Hodgson, Luke, Hormis, Anil, Jacobs, Michael, Jain, Susan, Jennings, Paul, Kaliappan, Agilan, Kasipandian, Vidya, Kegg, Stephen, Kelsey, Michael, Kendall, Jason, Kerrison, Caroline, Kerslake, Ian, Koch, Oliver, Koduri, Gouri, Koshy, George, Laha, Shondipon, Laird, Steven

المساهمون: COVID-19 Host Genetics Initiative

مصطلحات موضوعية: ddc:570, ddc:610

وصف الملف: application/pdf

الاتاحة: http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/87395
https://nbn-resolving.org/urn:nbn:de:hebis:30:3-873959
https://doi.org/10.1038/s41586-021-03767-x
http://publikationen.ub.uni-frankfurt.de/files/87395/s41586-021-03767-x.pdf

المؤلفون: Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Chambers, John C., Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Daly, Mark J., Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Neale, Benjamin M., Nilsson, Peter M., O’Donovan, Michael C., Ongur, Dost, Orozco, Lorena, Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Sokol, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis P., Watkins, Hugh, Weersma, Rinse K., Wessman, Maija, Xavier, Ramnik J.

وصف الملف: text

Relation: https://eprints.soton.ac.uk/468340/1/s41586_020_03174_8.pdf; Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Chambers, John C., Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Daly, Mark J., Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Neale, Benjamin M., Nilsson, Peter M., O’Donovan, Michael C., Ongur, Dost, Orozco, Lorena, Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Sokol, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis P., Watkins, Hugh, Weersma, Rinse K., Wessman, Maija, Xavier, Ramnik J., Neale, Benjamin M. and Daly, Mark J. (2021) Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humanS. Nature, 590 (7846), E53, [7809]. (doi:10.1038/s41586-020-03174-8 ).

الاتاحة: https://eprints.soton.ac.uk/468340/
https://eprints.soton.ac.uk/468340/1/s41586_020_03174_8.pdf

المؤلفون: Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Soto, Jose, Tiao, Grace, Tibbetts, Kathleen, Tolonen, Charlotte, Vittal, Christopher, Wade, Gordon, Wang, Arcturus, Wang, Qingbo, Ware, James S., Weisburd, Ben, Whiffin, Nicola, Salinas, Carlos A.Aguilar, Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Chambers, John C., Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Nilsson, Peter M., O’Donovan, Michael C., Ongur, Dost, Orozco, Lorena, Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Sokol, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis P., Watkins, Hugh, Weersma, Rinse K., Wessman, Maija, Xavier, Ramnik J.

وصف الملف: text

Relation: https://eprints.soton.ac.uk/468337/1/s41586_020_03175_7.pdf; Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Alföldi, Jessica, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Cummings, Beryl B., Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Karczewski, Konrad J., Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, O’Donnell-Luria, Anne H., Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Tiao, Grace, Tibbetts, Kathleen, Tolonen, Charlotte, Vittal, Christopher, Wade, Gordon, Wang, Arcturus, Wang, Qingbo, Ware, James S., Weisburd, Ben, Whiffin, Nicola, Salinas, Carlos A.Aguilar, Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Chambers, John C., Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Daly, Mark J., Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Neale, Benjamin M., Nilsson, Peter M., O’Donovan, Michael C., Ongur, Dost, Orozco, Lorena, Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Sokol, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis P., Watkins, Hugh, Weersma, Rinse K., Wessman, Maija, Xavier, Ramnik J. and Daly, Mark J. (2021) Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Nature, 590 (7846), E54. (doi:10.1038/s41586-020-03175-7 ).

الاتاحة: https://eprints.soton.ac.uk/468337/
https://eprints.soton.ac.uk/468337/1/s41586_020_03175_7.pdf

المؤلفون: Gudmundsson, Sanna, Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O'Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.

وصف الملف: text

Relation: https://eprints.soton.ac.uk/468341/1/s41586_020_03174_8.pdf; Gudmundsson, Sanna, Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O'Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J. and MacArthur, Daniel G. (2021) Erratum: Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature, 597 (7874), E4. (doi:10.1038/s41586-021-03758-y ).

الاتاحة: https://eprints.soton.ac.uk/468341/
https://eprints.soton.ac.uk/468341/1/s41586_020_03174_8.pdf

المؤلفون: Genome Aggregation Database Prod T, Genome Aggregation Database Consor, Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Karjalainen, Juha, Daly, Mark J., MacArthur, Daniel G., Färkkilä, Martti, Holi, Matti M., Kallela, Mikko, Kaprio, Jaakko, Palotie, Aarno, Tuomi, Tiinamaija, Wessman, Maija, Ripatti, Samuli

المساهمون: Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Department of Medicine, Clinicum, Gastroenterologian yksikkö, HUS Psychiatry, Department of Psychiatry, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö, Institute for Molecular Medicine Finland, Department of Public Health, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Biosciences, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki

مصطلحات موضوعية: GENES, ARRHYTHMIA, MUTATIONS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We thank all of the research participants for contributing their data. This work was supported by NIDDK U54 DK105566, NIGMS R01 GM104371, and the Broad Institute. KJK was supported by NIGMS F32 GM115208. A.O.L was supported by NICHD K12 HD052896. The GENCODE project is supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number U41HG007234. The results published here are in part based on data: (1) generated by The Cancer Genome Atlas (TCGA) managed by the NCI and NHGRI (accession: phs000178.v10.p8); information about TCGA can be found at http://cancergenome.nih.gov; (2) generated by the Genotype-Tissue Expression Project (GTEx) managed by the NIH Common Fund and NHGRI (accession: phs000424.v7.p2); (3) generated by the Exome Sequencing Project, managed by NHLBI; and (4) generated by the Alzheimer's Disease Sequencing Project (ADSP), managed by the NIA and NHGRI (accession: phs000572. v7.p4). We thank E. Pierce-Hoffman for previous analysis and thoughts on characterizing loss-of-function variants in haploinsufficient genes. We thank the iPSYCH/SSI/Broad Institute psychiatric genetics study for the use of exome count data. We have complied with all relevant ethical regulations. This study was overseen by the Broad Institute's Office of Research Subject Protection and the Partners Human Research Committee, and was given a determination of Not Human Subjects Research. Informed consent was obtained from all participants. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.; Genome Aggregation Database Prod T , Genome Aggregation Database Consor , Cummings , B B , Karczewski , K J , Kosmicki , J A , Karjalainen , J , Daly , M J , MacArthur , D G , Färkkilä , M , Holi , M M , Kallela , M , Kaprio , J , Palotie , A , Tuomi , T , Wessman , M & Ripatti , S 2020 , ' Transcript expression-aware annotation improves rare variant interpretation ' , Nature , vol. 581 , no. 7809 , pp. 452-+ . https://doi.org/10.1038/s41586-020-2329-2; ORCID: /0000-0002-0250-8559/work/87784659; ORCID: /0000-0002-8306-6202/work/87785121; ORCID: /0000-0002-2527-5874/work/97266538; ORCID: /0000-0002-3716-2455/work/87781103; http://hdl.handle.net/10138/325151; 3bb7aef7-ddf1-4abb-99f1-675c07f22c90; 000576060200005

الاتاحة: http://hdl.handle.net/10138/325151