检索结果 - Laura D. Gauthier
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GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data 由 Mehrtash Babadi, Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker, David Benjamin, Xuefang Zhao, Konrad J. Karczewski, Isaac Wong, Ryan L. Collins, Alba Sanchis‐Juan, Harrison Brand, Eric Banks, Michael E. Talkowski
出版 2023Artigo -
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Mitochondrial DNA variation across 56,434 individuals in gnomAD 由 Kristen M. Laricchia, Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier, David Benjamin, Eric Banks, José Soto, Kiran Garimella, James Emery, Heidi L. Rehm, Daniel G. MacArthur, Grace Tiao, Monkol Lek, Vamsi K. Mootha, Sarah E. Calvo
出版 2022Artigo -
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Landscape of X chromosome inactivation across human tissues 由 Taru Tukiainen, Alexandra‐Chloé Villani, Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Matthew Aguirre, Laura D. Gauthier, Mark Fleharty, Andrew Kirby, Beryl B. Cummings, Stephane E. Castel, Konrad J. Karczewski, François Aguet, Andrea Byrnes, Tuuli Lappalainen, Aviv Regev, Kristin Ardlie, Nir Hacohen, Daniel G. MacArthur
出版 2017Artigo -
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Landscape of X chromosome inactivation across human tissues 由 Taru Tukiainen, Alexandra‐Chloé Villani, Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Matthew Aguirre, Laura D. Gauthier, Mark Fleharty, Andrew Kirby, Beryl B. Cummings, Stephane E. Castel, Konrad J. Karczewski, François Aguet, Andrea Byrnes, Tuuli Lappalainen, Aviv Regev, Kristin Ardlie, Nir Hacohen, Daniel G. MacArthur
出版 2016Pré-impressão -
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Scaling accurate genetic variant discovery to tens of thousands of samples 由 Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo, Tim Fennell, Mauricio O. Carneiro, Géraldine A. Van der Auwera, David E. Kling, Laura D. Gauthier, Ami Levy‐Moonshine, David Roazen, Khalid Shakir, Joel Thibault, Sheila Chandran, Chris Whelan, Monkol Lek, Stacey Gabriel, Mark J. Daly, Ben Neale, Daniel G. MacArthur, Eric Banks
出版 2017Pré-impressão -
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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes 由 Konrad J. Karczewski, Matthew Solomonson, Katherine R. Chao, Julia K. Goodrich, Grace Tiao, Wenhan Lu, Bridget Riley‐Gillis, Ellen Tsai, Hye In Kim, Xiuwen Zheng, Fedik Rahimov, Sahar Esmaeeli, A. Jason Grundstad, Mark Reppell, Jeff Waring, Howard Jacob, David Sexton, Paola G. Bronson, Xing Chen, Xinli Hu, Jacqueline I. Goldstein, Daniel King, Christopher Vittal, Timothy Poterba, Duncan S. Palmer, Claire Churchhouse, Daniel P. Howrigan, Wei Zhou, Nicholas A. Watts, Kevin Nguyen, Huy Nguyen, Cara Mason, Christopher Farnham, Charlotte Tolonen, Laura D. Gauthier, Namrata Gupta, Daniel G. MacArthur, Heidi L. Rehm, Cotton Seed, Anthony Philippakis, Mark J. Daly, J. Wade Davis, Heiko Runz, Melissa Miller, Benjamin M. Neale
出版 2022Artigo -
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A genome-wide mutational constraint map quantified from variation in 76,156 human genomes 由 Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentín Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, Anne O’Donnell‐Luria, Matthew Solomonson, Cotton Seed, Alicia R. Martin, Michael E. Talkowski, Heidi L. Rehm, Mark J. Daly, Grace Tiao, Benjamin M. Neale, Daniel G. MacArthur, Konrad J. Karczewski
出版 2022Pré-impressão -
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An open resource of structural variation for medical and population genetics 由 Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Lauren Margolin, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy S. Post, Yii‐Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony Philippakis, Eric S. Lander, Stacey Gabriel, Benjamin M. Neale, Sekar Kathiresan, Mark J. Daly, Eric Banks, Daniel G. MacArthur, Michael E. Talkowski
出版 2019Pré-impressão -
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies 由 Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack Fu, Isaac Wong, Ryan L. Collins, Xuefang Zhao, Christina Austin‐Tse, Emily Evangelista, Gabrielle Lemire, Vimla S. Aggarwal, Diane Lucente, Laura D. Gauthier, Charlotte Tolonen, Nareh Sahakian, Christine Stevens, Joon‐Yong An, Shan Dong, Mary E. Norton, Tippi C. MacKenzie, Bernie Devlin, Kelly L. Gilmore, Bradford C. Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan Sanders, Daniel G. MacArthur, Jennelle C. Hodge, Anne O’Donnell‐Luria, Heidi L. Rehm, Neeta L. Vora, Brynn Levy, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski
出版 2023Artigo -
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A structural variation reference for medical and population genetics 由 Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent C. Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne O’Donnell‐Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, J. A. Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea
出版 2020Artigo -
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The mutational constraint spectrum quantified from variation in 141,456 humans 由 Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur
出版 2019Pré-impressão -
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Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans 由 Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur
出版 2021Errata/Corrigenda -
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Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism 由 Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Lambertus Klei, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Alfredo Brusco, Brian Hon‐Yin Chung, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girard, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Evelise Riberi, Rebecca J. Schmidt, Moyra Smith, Claudia I.C. Souza, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan Sanders, Michael E. Talkowski
出版 2021Pré-impressão -
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Analysis of protein-coding genetic variation in 60,706 humans 由 Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks, Timothy R. Fennell, Anne O’Donnell‐Luria, James S. Ware, Andrew Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce‐Hoffman, Joanne Berghout, D.N. Cooper, Nicole Deflaux, Mark A. DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura D. Gauthier, Jackie Goldstein, Namrata Gupta, Daniel P. Howrigan, Adam Kieżun, Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur
出版 2016Artigo -
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Analysis of protein-coding genetic variation in 60,706 humans 由 Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks, Timothy R. Fennell, Anne O’Donnell‐Luria, James S. Ware, Andrew Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce‐Hoffman, Joanne Berghout, D.N. Cooper, Nicole Deflaux, Mark A. DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura D. Gauthier, Jackie Goldstein, Namrata Gupta, Daniel P. Howrigan, Adam Kieżun, Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur
出版 2015Pré-impressão -
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Analysis of protein-coding genetic variation in 60,706 humans 由 Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks, Timothy R. Fennell, Anne O’Donnell‐Luria, James S. Ware, Andrew J. Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce‐Hoffman, Joanne Berghout, D.N. Cooper, Nicole Deflaux, Mark A. DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura D. Gauthier, Jackie Goldstein, Namrata Gupta, Daniel P. Howrigan, Adam Kieżun, Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur, Abboud, Abecasis, Aguilar-Salinas, Arellano-Campos, Atzmon, Aukrust, Barr, Bell, Bergen, Bjørkhaug, Blangero, Bowden, Budman, Burtt, Centeno-Cruz, Chambers, Chambert, Clarke, Collins, Coppola, Córdova
出版 2016Artigo -
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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes 由 Qingbo Wang, Emma Pierce‐Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew Hill, Anne O’Donnell‐Luria, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González, Leif Groop, Christopher Haiman, Craig L. Hanis, Matthew B. Harms, Mikko Hiltunen, Matti Holi, Christina M. Hultman, Mikko Kallela, Jaakko Kaprio, Sekar Kathiresan, Bong-Jo Kim, Young Jin Kim, George Kirov, Jaspal S. Kooner
出版 2020Artigo
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