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Steven Ferriera

Active 2000–2025

21
Papers
24,125
Citations
20
h-index
21
i10-index

Citations

Citations per year for Steven Ferriera1951: 1 citations1966: 1 citations1984: 1 citations1987: 2 citations1991: 1 citations1998: 1 citations2000: 114 citations2001: 225 citations2002: 244 citations2003: 154 citations2004: 144 citations2005: 115 citations2006: 68 citations2007: 80 citations2008: 73 citations2009: 70 citations2010: 82 citations2011: 86 citations2012: 87 citations2013: 53 citations2014: 82 citations2015: 67 citations2016: 43 citations2017: 54 citations2018: 39 citations2019: 246 citations2020: 867 citations2021: 1,210 citations2022: 1,096 citations2023: 812 citations2024: 1,315 citations2025: 589 citations2026: 31 citations1952–1965: no citations, so these years are not shown1967–1983: no citations, so these years are not shown1985–1986: no citations, so these years are not shown1988–1990: no citations, so these years are not shown1992–1997: no citations, so these years are not shown1999: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 4,235 citing papers, 24.8% of this breakdownUnited Kingdom: 1,582 citing papers, 9.3% of this breakdownGermany: 1,112 citing papers, 6.5% of this breakdownCanada: 783 citing papers, 4.6% of this breakdownFrance: 714 citing papers, 4.2% of this breakdownChina: 658 citing papers, 3.9% of this breakdownAustralia: 640 citing papers, 3.7% of this breakdownNetherlands: 596 citing papers, 3.5% of this breakdownItaly: 525 citing papers, 3.1% of this breakdownSpain: 508 citing papers, 3% of this breakdownJapan: 423 citing papers, 2.5% of this breakdownSwitzerland: 367 citing papers, 2.1% of this breakdown
0%24.8%Other 28.8%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology58.4%
  • Medicine19.2%
  • Neuroscience7.7%
  • Environmental Science4.5%
  • Agricultural and Biological Sciences4.2%
  • Immunology and Microbiology3%
  • Other3%

Topics

  • Genomics and Rare Diseases6.3%
  • Genomics and Phylogenetic Studies5%
  • Genetic Associations and Epidemiology3.1%
  • RNA and protein synthesis mechanisms2.7%
  • Genomic variations and chromosomal abnormalities2.4%
  • Cancer Genomics and Diagnostics2.2%
  • Other78.3%

Coauthors

All papers

Open in search
  1. The mutational constraint spectrum quantified from variation in 141,456 humans

    Authors: Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. 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 and 77 more - Nature 2020 cited by 10,328

  2. A genomic mutational constraint map using variation in 76,156 human genomes

    Authors: Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. 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 and 138 more - Nature 2023 cited by 1,411

  3. A structural variation reference for medical and population genetics

    Authors: Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit 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, Genome Aggregation Database Production Team, 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, Valentin 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 S. 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 and 108 more - Nature, Nat. 2020 cited by 1,190

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

    Authors: Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. 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 - 2019 cited by 1,768

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

    Authors: Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. 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 - 2022 cited by 325

  6. The Genome Sequence of Drosophila melanogaster

    Authors: Mark D. Adams, S Celniker, Robert A. Holt, Cheryl Evans, Jeannine D. Gocayne, Peter G. Amanatides, Steven E. Scherer, Peter W. Li, Roger A. Hoskins, Richard F. Galle, Reed George, Suzanna Lewis, Stephen M. Richards, Michael Ashburner, Scott N. Henderson, Granger G. Sutton, Jennifer R. Wortman, Mark Yandell, Qing Zhang, Lin X. Chen, Rhonda Brandon, Yu-Hui C. Rogers, Robert G. Blazej, Mark Champe, Barret D. Pfeiffer, Kenneth H. Wan, Clare Doyle, Evan G. Baxter, Gregg Helt, Catherine R. Nelson, George L. Gabor, Miklós, Josep F. Abril, Anna Agbayani, Hui-Jin An, Cynthia Andrews‐Pfannkoch, Danita Baldwin, Richard M. Ballew, Anand Basu, James Baxendale, Leyla Bayraktaroglu, Ellen M. Beasley, Karen Beeson, Panayiotis V. Benos, Benjamin P. Berman, Deepali Bhandari, Slava Bolshakov, Dana Borkova, Michael R. Botchan, John Bouck, Peter Brokstein, Phillipe Brottier, Kenneth C. Burtis, Dana Busam, H. Butler, Édouard Cadieu, Ishwar Chandra, J. Michael Cherry, Simon Cawley, Carl Dahlke, Lionel B. Davenport, Peter L. Davies, Beatriz de Pablos, Arthur L. Delcher, Zuoming Deng, Anne Deslattes Mays, Ian Dew, Suzanne M. Dietz, Kristina Dodson, Lisa Doup, Michael Downes, Shannon Dugan-Rocha, Boris C. Dunkov, Patrick Dunn, Kenneth J. Durbin, Carlos Evangelista, Concepción Ferraz, Steven Ferriera, Wolfgang Fleischmann, Carl Fosler, Andrei Gabrielian, Neha Garg, William M Gelbart, Ken Glasser, Anna Glodek, Fangcheng Gong, James H. Gorrell, Zhiping Gu, Ping Guan, Michael A. Harris, Nomi L. Harris, Damon A. Harvey, Thomas J. Heiman, Judith Hernandez, Jarrett Houck, Damon Hostin, Kathryn A. Houston, Timothy J. Howland, Ming-Hui Wei, Chinyere Ibegwam and 95 more - Science 2000 cited by 6,042

  7. Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

    Authors: 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, Genome Aggregation Database Production Team, 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 S. 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 and 71 more - Nature Communications 2020 cited by 191

  8. Evaluating drug targets through human loss-of-function genetic variation

    Authors: Eric Vallabh Minikel, Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel Rhodes, Jessica Alföldi, Richard C. Trembath, David A. van Heel, Mark J. Daly, Genome Aggregation Database Production Team, 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 Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric V. Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne H. O’Donnell-Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, Jose 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. Bottinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C. Chan, Daniel Chasman, Judy Cho, Mina K. Chung, Bruce Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosua, Jeanette Erdmann, Tõnu Esko, Martti Färkkilä, Jose Florez, Andre Franke, Gad Getz, Benjamin Glaser, Stephen J. Glatt, David Goldstein, Clicerio Gonzalez, Leif Groop, Christopher Haiman, Craig Hanis and 74 more - Nature 2020 cited by 181

  9. Transcript expression-aware annotation improves rare variant interpretation

    Authors: 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, Genome Aggregation Database Production Team, 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 S. 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 and 78 more - Nature 2020 cited by 202

  10. Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

    Authors: Maura Costello, Mark Fleharty, Justin Abreu, Yossi Farjoun, Steven Ferriera, Laurie Holmes, Brian Granger, Lisa Green, Tom Howd, Tamara Mason, Gina Vicente, Michael Dasilva, Wendy Brodeur, Timothy DeSmet, Sheila Dodge, Niall J. Lennon, Stacey Gabriel - BMC Genomics 2018 cited by 297

  11. The genomic basis of trophic strategy in marine bacteria

    Authors: Federico M. Lauro, Diane McDougald, Torsten Thomas, Timothy J. Williams, Suhelen Egan, Scott Rice, Matthew Z. DeMaere, Lily Ting, Haluk Ertan, Justin Johnson, Steven Ferriera, Alla Lapidus, Iain Anderson, Nikos C. Kyrpides, A. Christine Munk, Chris Detter, Cliff Han, Mark V. Brown, Frank T. Robb, Staffan Kjelleberg, Ricardo Cavicchioli - National Academy of Sciences, Proceedings of the National Academy of Sciences 2009 cited by 779

  12. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

    Authors: Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. 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 and 138 more - Nature 2024 cited by 184

  13. The effect of LRRK2 loss-of-function variants in humans

    Authors: Nicola Whiffin, Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric Vallabh Minikel, Julia K. Goodrich, Nicholas M. Quaife, Joanne B. Cole, Qingbo S. 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, Genome Aggregation Database Production Team, 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 and 118 more - Nature Medicine 2020 cited by 113

  14. Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

    Authors: Alicia R. Martin, Elizabeth G. Atkinson, Sinéad B. Chapman, Anne Stevenson, Rocky E. Stroud, Tamrat Abebe, Dickens Akena, Melkam Alemayehu Kebede, Fred K. Ashaba, Lukoye Atwoli, Tera Bowers, Lori B. Chibnik, Mark J. Daly, Timothy DeSmet, Sheila Dodge, Abebaw Fekadu, Steven Ferriera, Bizu Gelaye, Stella Gichuru, Wilfred Emonyi, Roxanne James, Symon M. Kariuki, Gabriel Kigen, Karestan C. Koenen, Edith Kwobah, Joseph Kyebuzibwa, Lerato Majara, Henry Musinguzi, Rehema M. Mwema, Benjamin M. Neale, Carter P. Newman, Charles R. Newton, Joseph K. Pickrell, Raj Ramesar, Welelta Shiferaw, Dan J. Stein, Solomon Teferra, Celia van der Merwe, Zukiswa Zingela - The American Journal of Human Genetics 2021 cited by 122

  15. Inferring compound heterozygosity from large-scale exome sequencing data

    Authors: 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 and 132 more - Nature Genetics 2023 cited by 35

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

    Authors: Sanna Gudmundsson, Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. 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 and 78 more - Nature 2021 cited by 63

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

    Authors: Qingbo S. Wang, Emma Pierce‐Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew Hill, Anne O’Donnell‐Luria, Genome Aggregation Database Production Team, 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 and 61 more - Nature Communications 2020 cited by 143

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

    Authors: Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. 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 - Nature 2021 cited by 98

  19. Patterns and Implications of Gene Gain and Loss in the Evolution of Prochlorococcus

    Authors: Gregory C Kettler, Adam C. Martiny, Katherine Huang, Jeremy Zucker, Maureen L. Coleman, Sébastien Rodrigue, Feng Chen, Alla Lapidus, Steven Ferriera, Justin Johnson, Claudia Steglich, George M. Church, Paul Richardson, Sallie W. Chisholm - PLoS Genetics 2007 cited by 562

  20. Genome Sequence of “ Candidatus Nitrosopumilus salaria” BD31, an Ammonia-Oxidizing Archaeon from the San Francisco Bay Estuary

    Authors: Annika C. Mosier, Eric E. Allen, Maria Kim, Steven Ferriera, Christopher Francis - Journal of Bacteriology 2012 cited by 80

  21. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

    Authors: Sanna Gudmundsson, Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson, Nicholas A. Watts, María T. Abreu, Amina Abubakar, Rolf Adolfsson, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, Matthieu Allez, Celso Arango López, Diego Ardissino, Irina M. Armean, Elizabeth G. Atkinson, Gil Atzmon, Eric Banks, J. A. Barnard, Samantha Baxter, Laurent Beaugerie, David Benjamin, Emelia J. Benjamin, Louis Bergelson, Çharles N. Bernstein, Douglas Blackwood, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, Harrison Brand, Steven R. Brant, Ted Brookings, Sam Bryant, Shawneequa Callier, Hannia Campos, John C. Chambers, Juliana C.N. Chan, Katherine R. Chao, Sinéad B. Chapman, Daniel I. Chasman, Lea Ann Chen, 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, Aiden Corvin, Miguel Covarrubias, Nick Craddock, Beryl B. Cummings, Dana Dabelea, Mark J. Daly, John Danesh, Dawood Darbar, Phil Darnowsky, Joshua C. Denny, Stacey Donnelly, Richard H. Duerr, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Yossi Farjoun, Diane Fatkin, William A. Faubion, Steven Ferriera, Gemma A. Figtree, Kelly Flannagan, José C. Florez, Laurent C. Francioli, André Franke, Adam Frankish, Jack Fu, Martti Färkkilâ, Stacey Gabriel, Kiran Garimella, Laura D. Gauthier, Jeff Gentry, Michel Georges, Gad Getz, David C. Glahn, Benjamin Gläser, Stephen J. Glatt, Fernando S. Goes and 209 more - Nature Communications 2025 cited by 11

All 21 papers shown.