Ngā hua rapu - Timothy Poterba

Whakamahine hua
  1. 1
    Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

    Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects mā Konrad J. Karczewski, Rahul Gupta, Masahiro Kanai, Wenhan Lu, Kristin Tsuo, Ying Wang, Raymond K. Walters, Patrick Turley, Shawneequa Callier, Nirav N. Shah, Nikolas Baya, Duncan S. Palmer, Jacqueline I. Goldstein, Gopal Sarma, Matthew Solomonson, Nathan Cheng, Sam Bryant, Claire Churchhouse, Caroline Cusick, Timothy Poterba, John Compitello, Daniel A. King, Wei Zhou, Cotton Seed, Hilary K. Finucane, Mark J. Daly, Benjamin M. Neale, Elizabeth G. Atkinson, Alicia R. Martin

    I whakaputaina 2024
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  2. 2
    Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

    Ultra-rare disruptive and damaging mutations influence educational attainment in the general population mā Andrea Ganna, Giulio Genovese, Daniel P. Howrigan, Andrea Byrnes, Mitja Kurki, Seyedeh M. Zekavat, Christopher W. Whelan, Mart Kals, Michel G. Nivard, Alex Bloemendal, Jonathan M. Bloom, Jacqueline I. Goldstein, Timothy Poterba, Cotton Seed, Robert E. Handsaker, Pradeep Natarajan, Reedik Mägi, Diane Gage, Elise Robinson, Andres Metspalu, Veikko Salomaa, Jaana Suvisaari, Shaun Purcell, Pamela Sklar, Sekar Kathiresan, Mark J. Daly, Steven A. McCarroll, Patrick F. Sullivan, Aarno Palotie, Tõnu Esko, Christina M. Hultman, Benjamin M. Neale

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

    Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes mā 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

    I whakaputaina 2022
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    Artigo
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  4. 4
    A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

    A genome-wide mutational constraint map quantified from variation in 76,156 human genomes mā 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

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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  5. 5
    Transcript expression-aware annotation improves rare variant interpretation

    Transcript expression-aware annotation improves rare variant interpretation mā Beryl B. Cummings, Konrad J. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer‐Berk, Jonathan M. Mudge, Juha Karjalainen, F. Kyle Satterstrom, Anne O’Donnell‐Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alföldi, 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, 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, Mark J. Daly, 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Genome-wide association study of school grades identifies genetic overlap between language ability, psychopathology and creativity

    Genome-wide association study of school grades identifies genetic overlap between language ability, psychopathology and creativity mā Veera M. Rajagopal, Andrea Ganna, Jonathan R. I. Coleman, Andrea G. Allegrini, Georgios Voloudakis, Jakob Grove, Thomas D. Als, Henriette Thisted Horsdal, Liselotte Petersen, Vivek Appadurai, Andrew J. Schork, Alfonso Buil, Cynthia M. Bulik, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, David M. Hougaard, Ole Mors, Merete Nordentoft, Thomas Werge, Rich Belliveau, Caitlin E. Carey, Felecia Cerrato, Kimberly Chambert, Tracy Air, Mark J. Daly, Ashley Dumont, Jacqueline I. Goldstein, Christine Søholm Hansen, Daniel P. Howrigan, Hailiang Huang, Julian Maller, Alicia R. Martin, Joanna Martin, Manuel Mattheisen, Jennifer L. Moran, Benjamin M. Neale, Jonatan Pallesen, Duncan S. Palmer, Carsten Bcker Pedersen, Marianne Giørtz Pedersen, Timothy Poterba, Stephan Ripke, F. Kyle Satterstrom, Wesley K. Thompson, Patrick Turley, Raymond K. Walters, Preben Bo Mortensen, Gerome Breen, Panos Roussos, Robert Plomin, Esben Agerbo, Anders D. Børglum, Ditte Demontis

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    The mutational constraint spectrum quantified from variation in 141,456 humans

    The mutational constraint spectrum quantified from variation in 141,456 humans mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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  8. 8
    Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

    Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans mā 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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Errata/Corrigenda
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  9. 9
    Discovery of the first genome-wide significant risk loci for ADHD

    Discovery of the first genome-wide significant risk loci for ADHD mā Ditte Demontis, Raymond K. Walters, Joanna Martin, Manuel Mattheisen, Thomas D. Als, Esben Agerbo, Rich Belliveau, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Felecia Cerrato, Kimberly Chambert, Tracy Air, Ashley Dumont, Nicholas Eriksson, Michael J. Gandal, Jacqueline I. Goldstein, Jakob Grove, Christine Søholm Hansen, Mads E. Hauberg, Mads V. Hollegaard, Daniel P. Howrigan, Hailiang Huang, Julian Maller, Joanna Martin, Jennifer L. Moran, Jonatan Pallesen, Duncan S. Palmer, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Timothy Poterba, Jesper Buchhave Poulsen, Stephan Ripke, Elise Robinson, Kyle F. Satterstrom, Christine Stevens, Patrick Turley, Hyejung Won, Ole A. Andreassen, Christie L. Burton, Dorret I. Boomsma, Bru Cormand, Søren Dalsgaard, Barbara Franke, Joel Gelernter, Daniel H. Geschwind, Hákon Hákonarson, Jan Haavik, Henry R. Kranzler, Jonna Kuntsi, K. Langley, Klaus‐Peter Lesch, Christel M. Middeldorp, Andreas Reif, Luís Augusto Rohde, Panos Roussos, Russell Schachar, Pamela Sklar, Edmund Sonuga‐Barke, Patrick F. Sullivan, Anita Thapar, Joyce Y. Tung, Irwin D. Waldman, Merete Nordentoft, David M. Hougaard, Thomas Werge, Ole Mors, Preben Bo Mortensen, Mark J. Daly, Stephen V. Faraone, Anders D. Børglum, Benjamin M. Neale

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
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  10. 10
    Common risk variants identified in autism spectrum disorder

    Common risk variants identified in autism spectrum disorder mā Jakob Grove, Stephan Ripke, Thomas D. Als, Manuel Mattheisen, Raymond K. Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A. Andreassen, Richard Anney, Rich Belliveau, Francesco Bettella, Joseph D. Buxbaum, Jonas Bybjerg‐Grauholm, Marie Bækved-Hansen, Felecia Cerrato, Kimberly Chambert, Jane Christensen, Tracy Air, Karin Dellenvall, Ditte Demontis, Silvia De Rubeis, Bernie Devlin, Srdjan Djurovic, Ashle Dumont, Jacqueline I. Goldstein, Christine Søholm Hansen, Mads E. Hauberg, Mads V. Hollegaard, Sigrun Hope, Daniel P. Howrigan, Hailiang Huang, Christina M. Hultman, Lambertus Klei, Julian Maller, Joanna Martin, Alicia R. Martin, Jennifer L. Moran, Mette Nyegaard, Terje Nærland, Duncan S. Palmer, Aarno Palotie, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Timothy Poterba, Jesper Buchhave Poulsen, Beaté St Pourcain, Per Qvist, Karola Rehnström, Avi Reichenberg, Jennifer Reichert, Elise Robinson, Kathryn Roeder, Panos Roussos, Evald Sæmundsen, Sven Sandin, F. Kyle Satterstrom, George Davey Smith, Hreinn Stefánsson, Kāri Stefánsson, Stacy Steinberg, Christine Stevens, Patrick F. Sullivan, Patrick Turley, G. Bragi Walters, Xinyi Xu, Daniel H. Geschwind, Merete Nordentoft, David M. Hougaard, Thomas Werge, Ole Mors, Preben Bo Mortensen, Benjamin M. Neale, Mark J. Daly, Anders D. Børglum

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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  11. 11
    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome mā David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

    Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder mā Ditte Demontis, Raymond K. Walters, Joanna Martin, Manuel Mattheisen, Thomas D. Als, Esben Agerbo, Gísli Baldursson, Rich Belliveau, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Felecia Cerrato, Kimberly Chambert, Tracy Air, Ashley Dumont, Nicholas Eriksson, Michael J. Gandal, Jacqueline I. Goldstein, Katrina L. Grasby, Jakob Grove, Ólafur Ó. Guðmundsson, Christine Søholm Hansen, Mads E. Hauberg, Mads V. Hollegaard, Daniel P. Howrigan, Hailiang Huang, Julian Maller, Alicia R. Martin, Nicholas G. Martin, Jennifer L. Moran, Jonatan Pallesen, Duncan S. Palmer, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Timothy Poterba, Jesper Buchhave Poulsen, Stephan Ripke, Elise Robinson, F. Kyle Satterstrom, Hreinn Stefánsson, Christine Stevens, Patrick Turley, G. Bragi Walters, Hyejung Won, Margaret J. Wright, Ole A. Andreassen, Philip Asherson, Christie L. Burton, Dorret I. Boomsma, Bru Cormand, Søren Dalsgaard, Barbara Franke, Joel Gelernter, Daniel H. Geschwind, Hákon Hákonarson, Jan Haavik, Henry R. Kranzler, Jonna Kuntsi, K. Langley, Klaus‐Peter Lesch, Christel M. Middeldorp, Andreas Reif, Luís Augusto Rohde, Panos Roussos, Russell Schachar, Pamela Sklar, Edmund Sonuga‐Barke, Patrick F. Sullivan, Anita Thapar, Joyce Y. Tung, Irwin D. Waldman, Sarah E. Medland, Kāri Stefánsson, Merete Nordentoft, David M. Hougaard, Thomas Werge, Ole Mors, Preben Bo Mortensen, Mark J. Daly, Stephen V. Faraone, Anders D. Børglum, Benjamin M. Neale

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Revisão
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  13. 13
    Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

    Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap mā Michael J. Gandal, Jillian R. Haney, Neelroop Parikshak, Virpi Leppä, Gokul Ramaswami, Christopher Hartl, Andrew J. Schork, Vivek Appadurai, Alfonso Buil, Thomas Werge, Chunyu Liu, Kevin P. White, Steve Horvath, Daniel H. Geschwind, Nenad Šestan, Flora M. Vaccarino, Mark Gerstein, Sherman M. Weissman, Sirisha Pochareddy, Matthew W. State, James A. Knowles, Peggy Farnham, Schahram Akbarian, Dalila Pinto, Harm Van Baekl, Stella Dracheva, Andrew E. Jaffe, Thomas M. Hyde, Peter P. Zandi, Gregory E. Crawford, Pat Sullivan, Wesley K. Thompson, Preben Bo Mortensen, Esben Agerbo, Marianne Giørtz Pedersen, Carsten Bøcker Pedersen, Ole Mors, Anders D. Børglum, Merete Nordentoft, David M. Hougaard, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Alicia R. Martin, Ashley Dumont, Christine Stevens, Tracy Air, Daniel P. Howrigan, Duncan S. Palmer, Elise Robinson, Kyle F. Satterstrom, Felecia Cerrato, Hailiang Huang, Jacqueline I. Goldstein, Jennifer L. Moran, Joanna Martin Julian, M. Alonge Kimberly, C. Seed Patrick, Patrick Turley, Raymond K. Walters, Rich Belliveau, Stephan Ripke, Timothy Poterba, Mark J. Daly, Benjamin M. Neale, Menachem Fromer, Panos Roussos, Jessica Johnson, Hardik Shah, Milind Mahajan, Eric E. Schadt, Vahram Haroutunian, Douglas M. Ruderfer, Joseph D. Buxbaum, Solveig K. Sieberts, Kristen K. Dang, Ben Logsdon, Lara M. Mangravite, Mette A. Peters, Raquel E. Gur, Chang-Gyu Hahn, Bernie Devlin, Lambertus Klei, David A. Lewis, Barbara K. Lipska, Keisuke Hirai, Hiroyoshi Toyoshiba, Enrico Domenici

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    The mutational constraint spectrum quantified from variation in 141,456 humans

    The mutational constraint spectrum quantified from variation in 141,456 humans mā 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, 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, Mark J. Daly, 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    The effect of LRRK2 loss-of-function variants in humans

    The effect of LRRK2 loss-of-function variants in humans mā Nicola Whiffin, Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric Vallabh Minikel, Julia K. Goodrich, Nicholas M. Quaife, Joanne B. Cole, Qingbo Wang, Konrad J. Karczewski, Beryl B. Cummings, Laurent C. Francioli, Kristen M. Laricchia, Anna Guan, Babak Alipanahi, Peter Morrison, Marco A. S. Baptista, Juliana C.N. Chan, 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, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Kristen M. Laricchia, Christopher Llanwarne, 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, Nicholas A. Watts, Ben Weisburd, 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, 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

    I whakaputaina 2020
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  17. 17
    A structural variation reference for medical and population genetics

    A structural variation reference for medical and population genetics mā 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

    I whakaputaina 2020
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  18. 18
    Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

    Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals mā Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schäfer, Owen J. L. Rackham, Jessica Alföldi, Anne O’Donnell‐Luria, Laurent C. Francioli, 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, Stacey Gabriel, Laura D. Gauthier, 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, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, 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, Mark J. Daly, 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

    I whakaputaina 2020
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  19. 19
    Evaluating drug targets through human loss-of-function genetic variation

    Evaluating drug targets through human loss-of-function genetic variation mā Eric Vallabh Minikel, Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel R. Rhodes, Jessica Alföldi, Richard C. Trembath, David A. van Heel, Mark J. Daly, 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, Mark J. Daly, 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, Per‐Henrik Groop, Christopher Haiman, Craig L. Hanis, Matthew Harms

    I whakaputaina 2020
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  20. 20
    Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

    Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans mā Sanna Gudmundsson, 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, 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, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, Andre Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González

    I whakaputaina 2021
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