תוצאות חיפוש - Nicholas A. Watts

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  1. 1
    Variant interpretation using population databases: Lessons from gnomAD

    Variant interpretation using population databases: Lessons from gnomAD מאת Sanna Gudmundsson, Moriel Singer‐Berk, Nicholas A. Watts, William Phu, Julia K. Goodrich, Matthew Solomonson, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell‐Luria

    יצא לאור 2021
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    Revisão
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  2. 2
    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data מאת Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood, Rachel G. Son, Nicholas A. Watts, Konrad J. Karczewski, Steven M. Harrison, Daniel G. MacArthur, Heidi L. Rehm, Anne O’Donnell‐Luria

    יצא לאור 2023
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    Artigo
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  3. 3
    Mitochondrial DNA variation across 56,434 individuals in gnomAD

    Mitochondrial DNA variation across 56,434 individuals in gnomAD מאת 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

    יצא לאור 2022
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    Artigo
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  4. 4
    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 מאת 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

    יצא לאור 2022
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    Artigo
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  5. 5
    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 מאת 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

    יצא לאור 2022
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  6. 6
    An open resource of structural variation for medical and population genetics

    An open resource of structural variation for medical and population genetics מאת 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

    יצא לאור 2019
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  7. 7
    Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

    Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia מאת Duncan S. Palmer, Daniel P. Howrigan, Sinéad B. Chapman, Rolf Adolfsson, Nicholas Bass, Douglas Blackwood, Marco P. Boks, Chia‐Yen Chen, Claire Churchhouse, Aiden Corvin, Nicholas Craddock, David Curtis, Arianna Di Florio, Faith Dickerson, Nelson B. Freimer, Fernando S. Goes, Xiaoming Jia, Ian Jones, Lisa Jones, Lina Jönsson, René S. Kahn, Mikael Landén, Adam E. Locke, Andrew M. McIntosh, Andrew McQuillin, Derek W. Morris, Michael O’Donovan, Roel A. Ophoff, Michael J. Owen, Nancy L. Pedersen, Daniëlle Posthuma, Andreas Reif, Neil Risch, Catherine Schaefer, Laura J. Scott, Tarjinder Singh, Jordan W. Smoller, Matthew Solomonson, David St Clair, Eli A. Stahl, Annabel Vreeker, James Walters, Weiqing Wang, Nicholas A. Watts, Robert H. Yolken, Peter P. Zandi, Benjamin M. Neale

    יצא לאור 2022
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  8. 8
    Transcript expression-aware annotation improves rare variant interpretation

    Transcript expression-aware annotation improves rare variant interpretation מאת 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

    יצא לאור 2020
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    Artigo
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  9. 9
    A structural variation reference for medical and population genetics

    A structural variation reference for medical and population genetics מאת 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

    יצא לאור 2020
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    Artigo
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  10. 10
    The mutational constraint spectrum quantified from variation in 141,456 humans

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

    יצא לאור 2019
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  11. 11
    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 מאת 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

    יצא לאור 2021
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    Errata/Corrigenda
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  12. 12
    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 מאת 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

    יצא לאור 2020
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    Artigo
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  13. 13
    The mutational constraint spectrum quantified from variation in 141,456 humans

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

    יצא לאור 2020
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    Artigo
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  14. 14
    The effect of LRRK2 loss-of-function variants in humans

    The effect of LRRK2 loss-of-function variants in humans מאת 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

    יצא לאור 2020
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    Artigo
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  15. 15
    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 מאת 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

    יצא לאור 2020
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    Artigo
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  16. 16
    Evaluating drug targets through human loss-of-function genetic variation

    Evaluating drug targets through human loss-of-function genetic variation מאת 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

    יצא לאור 2020
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    Artigo
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  17. 17
    Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

    Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans מאת 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

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Errata/Corrigenda
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  18. 18
    Inferring compound heterozygosity from large-scale exome sequencing data

    Inferring compound heterozygosity from large-scale exome sequencing data מאת Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich, Nicholas A. Watts, Moriel Singer‐Berk, Emily Groopman, Philip W. Darnowsky, Matthew Solomonson, Samantha Baxter, María T. Abreu, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, Diego Ardissino, Irina M. Armean, Gil Atzmon, Eric Banks, John Barnard, Samantha Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Louis Bergelson, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, Steven R. Brant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C.N. Chan, Katherine R. Chao, Sinéad B. Chapman, Daniel I. Chasman, Siwei Chen, Rex L. Chisholm, Judy H. Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce M. Cohen, Ryan L. Collins, Kristen M. Connolly, Adolfo Correa, Miguel Covarrubias, Beryl B. Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Joshua C. Denny, Stacey Donnelly, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Yossi Farjoun, Diane Fatkin, Steven Ferriera, José C. Florez, André Franke, Martti Färkkilâ, Stacey Gabriel, Kiran Garimella, Laura D. Gauthier, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Gläser, Stephen J. Glatt, David B. Goldstein, Clicerio González, Leif Groop, Sanna Gudmundsson, Namrata Gupta, Andrea Haessly, Christopher A. Haiman, Ira M. Hall, Craig L. Hanis, Matthew Harms, Mikko Hiltunen, Matti Holi, Christina M. Hultman, Chaim Jalas, Thibault Jeandet, Mikko Kallela, Diane Kaplan, Jaakko Kaprio, Sekar Kathiresan, Eimear E. Kenny, Bong-Jo Kim

    יצא לאור 2023
    קבל טקסט מלא
    Artigo
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  19. 19
    Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

    Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes מאת 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, Riley Grant, 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, María T. Abreu, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Irina M. Armean, Elizabeth G. Atkinson, Gil Atzmon, John Barnard, Samantha Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, Harrison Brand, Steven R. Brant, Ted Brookings, Sam Bryant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C.N. Chan, Katherine R. Chao, Sinéad B. Chapman, Daniel I. Chasman, Rex L. Chisholm, Judy H. Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce M. Cohen, Kristen M. Connolly, Adolfo Correa, Beryl B. Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Phil Darnowsky, Joshua C. Denny, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Diane Fatkin, José C. Florez, André Franke, Jack Fu, Martti Färkkilâ, Kiran Garimella, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Gläser, Stephen J. Glatt, David B. Goldstein

    יצא לאור 2024
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    Errata/Corrigenda
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  20. 20
    Rare coding variants in ten genes confer substantial risk for schizophrenia

    Rare coding variants in ten genes confer substantial risk for schizophrenia מאת Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Jack D. Barchas, Nicholas Bass, Tim B. Bigdeli, Gerome Breen, Evelyn J. Bromet, P.F. Buckley, William E. Bunney, Jonas Bybjerg‐Grauholm, William Byerley, Sinéad B. Chapman, Wei J. Chen, Claire Churchhouse, Nicholas Craddock, Caroline Cusick, Lynn E. DeLisi, Sheila Dodge, Michael Escamilla, Saana Eskelinen, Ayman H. Fanous, Stephen V. Faraone, Alessia Fiorentino, Laurent C. Francioli, Stacey Gabriel, Diane Gage, Sarah A. Gagliano Taliun, Andrea Ganna, Giulio Genovese, David C. Glahn, Jakob Grove, Mei‐Hua Hall, Eija Hämäläinen, Henrike Heyne, Matti Holi, David M. Hougaard, Daniel P. Howrigan, Hailiang Huang, Hai‐Gwo Hwu, René S. Kahn, Hyun Min Kang, Konrad J. Karczewski, George Kirov, James A. Knowles, Francis S. Lee, Douglas S. Lehrer, Francesco Lescai, Dolores Malaspina, Stephen R. Marder, Steven A. McCarroll, Andrew M. McIntosh, Helena Medeiros, Lili Milani, Christopher P. Morley, Derek W. Morris, Preben Bo Mortensen, R Myers, Merete Nordentoft, Niamh L. O’Brien, Ana Maria Olivares, Döst Öngür, Willem H. Ouwehand, Duncan S. Palmer, Tiina Paunio, Digby Quested, Mark Hyman Rapaport, Elliott Rees, Brandi Rollins, F. Kyle Satterstrom, Alan F. Schatzberg, Edward M. Scolnick, Laura J. Scott, Sally I. Sharp, Pamela Sklar, Jordan W. Smoller, Janet L. Sobell, Matthew Solomonson, Eli A. Stahl, Christine Stevens, Jaana Suvisaari, Grace Tiao, Stanley J. Watson, Nicholas A. Watts, Douglas Blackwood, Anders D. Børglum, Bruce M. Cohen, Aiden Corvin, Tõnu Esko, Nelson B. Freimer, Stephen J. Glatt, Christina M. Hultman, Andrew McQuillin, Aarno Palotie, Carlos N. Pato, Michele T. Pato, Ann E. Pulver, David St Clair

    יצא לאור 2022
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    Artigo
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