Ben Weisburd

Active 2012–2025

50
Papers
28,834
Citations
30
h-index
42
i10-index

Citations

Citations per year for Ben Weisburd1951: 1 citations1987: 3 citations2001: 1 citations2006: 1 citations2007: 1 citations2009: 2 citations2011: 2 citations2012: 2 citations2013: 18 citations2014: 27 citations2015: 28 citations2016: 155 citations2017: 372 citations2018: 433 citations2019: 1,394 citations2020: 1,639 citations2021: 1,691 citations2022: 1,385 citations2023: 990 citations2024: 1,447 citations2025: 610 citations2026: 31 citations1952–1986: no citations, so these years are not shown1988–2000: no citations, so these years are not shown2002–2005: no citations, so these years are not shown2008: no citations, so this year is not shown2010: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 5,092 citing papers, 22.7% of this breakdownUnited Kingdom: 2,069 citing papers, 9.2% of this breakdownGermany: 1,442 citing papers, 6.4% of this breakdownCanada: 1,058 citing papers, 4.7% of this breakdownNetherlands: 954 citing papers, 4.3% of this breakdownFrance: 934 citing papers, 4.2% of this breakdownChina: 895 citing papers, 4% of this breakdownAustralia: 851 citing papers, 3.8% of this breakdownItaly: 794 citing papers, 3.6% of this breakdownSpain: 609 citing papers, 2.7% of this breakdownJapan: 482 citing papers, 2.2% of this breakdownSweden: 452 citing papers, 2% of this breakdown
0%22.7%Other 30.2%

Fields

  • Biochemistry, Genetics and Molecular Biology59.7%
  • Medicine29.1%
  • Neuroscience5.3%
  • Immunology and Microbiology2.8%
  • Pharmacology, Toxicology and Pharmaceutics0.7%
  • Agricultural and Biological Sciences0.7%
  • Other1.7%

Topics

  • Genomics and Rare Diseases9%
  • Genetic Associations and Epidemiology4%
  • Genomic variations and chromosomal abnormalities3.3%
  • Cancer Genomics and Diagnostics3.3%
  • Genetics and Neurodevelopmental Disorders2.8%
  • Genomics and Phylogenetic Studies2.5%
  • Other75.1%

Coauthors

All papers

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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. Analysis of protein-coding genetic variation in 60,706 humans

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur - Nature 2015 cited by 10,435

  3. A structural variation reference for medical and population genetics

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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. The ExAC browser: displaying reference data information from over 60 000 exomes

    Authors: , , , , , , , , , , , , , - Nucleic Acids Research, Nucleic Acids Res. 2016 cited by 833

  6. Genome Sequencing for Diagnosing Rare Diseases

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Denny Popp, Tilman Polster, Konrad Platzer, Eric A. Pierce, Emily Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei‐Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O’Leary, Emily O’Heir, Chantal F. Morel, Andreas Merkenschlager, Rhett G. Marchant, Brian Mangilog, Jill A. Madden, Daniel G. MacArthur, Alysia Kern Lovgren, Jordan Lerner‐Ellis, Jasmine Lin, Nigel G. Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia K. Goodrich, Joseph G. Gleeson, Roula Ghaoui, Casie A. Genetti, Janina Gburek‐Augustat, Hanna T. Gazda, Vijay Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T. Cooper, Wendy K. Chung, John Christodoulou, Katherine R. Chao, Liam D. Cato, Kinga M. Bujakowska, Samantha J. Bryen, Harrison Brand, Carsten G. Bönnemann, Alan H. Beggs, Samantha Baxter, Tobias Bartolomaeus, Pankaj B. Agrawal, Michael E. Talkowski, Christina Austin‐Tse, Rami Abou Jamra, Heidi L. Rehm, Anne O’Donnell‐Luria - New England Journal of Medicine 2024 cited by 184

  7. seqr : A web‐based analysis and collaboration tool for rare disease genomics

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , - Human Mutation 2022 cited by 109

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  9. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

    Authors: , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2021 cited by 134

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  11. Decoding Human Cytomegalovirus

    Authors: , , , , , , , , , , , , - Science 2012 cited by 614

  12. Transcript expression-aware annotation improves rare variant interpretation

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  13. A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

    Authors: , , , , , , , , , , , , , , , , , , , - Brain 2020 cited by 95

  14. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Ching‐Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio J. Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma. Eugenia Garay‐Sevilla, Humberto Garcia‐Ortíz, Christian Gieger, Benjamin Gläser, Clicerio González‐Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron D. Gross, Christopher A. Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard‐Costa, Brian E. Henderson, Juan Manuel Hernandez, Mi Yeong Hwang, Sergio Islas‐Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal S. Kooner, Johanna Kuusisto, Soo‐Heon Kwak, Markku Laakso, Leslie A. Lange, Jong‐Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C.W., Angélica Martínez‐Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza‐Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuß, Bruce M. Psaty, Alex P. Reiner, M. Revilla, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Robert Sladek, Kerrin S. Small and 31 more - Nature Communications 2021 cited by 110

  15. KSHV 2.0: A Comprehensive Annotation of the Kaposi's Sarcoma-Associated Herpesvirus Genome Using Next-Generation Sequencing Reveals Novel Genomic and Functional Features

    Authors: , , , , , , , , - PLoS Pathogens 2014 cited by 334

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  17. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , - Genome Medicine 2022 cited by 55

  18. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Kelly L. Gilmore, Bradford C. Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan Sanders, Daniel G. MacArthur, Jennelle C. Hodge, Anne O’Donnell‐Luria, Heidi L. Rehm, Neeta L. Vora, Brynn Levy, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski - The American Journal of Human Genetics 2023 cited by 54

  19. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Garth A. Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Piraye Oflazer, Nazlı Başak, Hülya Kayserili, Gözde Yeşil, Edoardo Malfatti, James B Lilleker, Matthew Wicklund, Robert D. S. Pitceathly, Stefen Brady, Bernard Brais, David Pellerin, Stephan Züchner, Matt C. Danzi, Marina Grandis, Giacomo P. Comi, Stefania Corti, Elena Abati, Antonio Toscano, Arianna Manini, Arianna Ghia, Cristina Tassorelli, Ilaria Quartesan, Roberto Simone, Alexander M. Rossor, Mary M. Reilly, Liam Carroll, Volker Straub, Bjarne Udd, Zhiyong Chen, Gisèle Bonne, Rosaline C. M. Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael Fahey, Enrico Bugiardini, Gianina Ravenscroft - Nature Communications 2024 cited by 28

  20. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville and 102 more - Nature Medicine 2023 cited by 63

  21. Compensatory induction of MYC expression by sustained CDK9 inhibition via a BRD4-dependent mechanism

    Authors: , , , , , , , , , , , , , - eLife 2015 cited by 154

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  23. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur - Science Translational Medicine 2016 cited by 806

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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