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Peter D. Stenson

Active 2000–2025

56
Papers
26,439
Citations
46
h-index
54
i10-index

Citations

Citations per year for Peter D. Stenson1951: 1 citations1984: 1 citations1987: 1 citations1998: 2 citations2000: 6 citations2001: 8 citations2002: 8 citations2003: 9 citations2004: 28 citations2005: 49 citations2006: 65 citations2007: 42 citations2008: 52 citations2009: 67 citations2010: 71 citations2011: 77 citations2012: 121 citations2013: 160 citations2014: 145 citations2015: 194 citations2016: 362 citations2017: 591 citations2018: 645 citations2019: 1,736 citations2020: 1,348 citations2021: 956 citations2022: 694 citations2023: 479 citations2024: 771 citations2025: 308 citations2026: 31 citations1952–1983: no citations, so these years are not shown1985–1986: no citations, so these years are not shown1988–1997: 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: 4,231 citing papers, 23.2% of this breakdownUnited Kingdom: 1,606 citing papers, 8.8% of this breakdownGermany: 1,111 citing papers, 6.1% of this breakdownChina: 909 citing papers, 5% of this breakdownFrance: 832 citing papers, 4.6% of this breakdownCanada: 808 citing papers, 4.4% of this breakdownNetherlands: 678 citing papers, 3.7% of this breakdownItaly: 663 citing papers, 3.6% of this breakdownAustralia: 626 citing papers, 3.4% of this breakdownSpain: 512 citing papers, 2.8% of this breakdownSweden: 373 citing papers, 2.1% of this breakdownJapan: 365 citing papers, 2% of this breakdown
0%23.2%Other 30.3%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology63.2%
  • Medicine24.2%
  • Neuroscience4.3%
  • Immunology and Microbiology3.1%
  • Agricultural and Biological Sciences1.6%
  • Computer Science1%
  • Other2.6%

Topics

  • Genomics and Rare Diseases9.4%
  • Genomics and Phylogenetic Studies3.5%
  • Genetic Associations and Epidemiology3.4%
  • Genomic variations and chromosomal abnormalities3.2%
  • Cancer Genomics and Diagnostics3.1%
  • RNA and protein synthesis mechanisms2.9%
  • Other74.5%

Coauthors

All papers

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

    Authors: Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks, Timothy R. Fennell, Anne O’Donnell‐Luria, James S. Ware, Andrew Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce‐Hoffman, Joanne Berghout, D.N. Cooper, Nicole Deflaux, Mark A. DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura D. Gauthier, Jackie Goldstein, Namrata Gupta, Daniel P. Howrigan, Adam Kieżun, Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur - Nature 2015 cited by 10,435

  2. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

    Authors: Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luı́sa Azevedo, Matthew Hayden, Sally Heywood, David Millar, Andrew D. Phillips, D.N. Cooper - Human Genetics 2020 cited by 825

  3. Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Authors: Hashem A. Shihab, Julian Gough, D.N. Cooper, Peter D. Stenson, Gary Barker, Keith J. Edwards, Ian N.M. Day, Tom R. Gaunt - Human Mutation 2012 cited by 1,405

  4. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

    Authors: Karthik A. Jagadeesh, Aaron M. Wenger, Mark J. Berger, Harendra Guturu, Peter D. Stenson, D.N. Cooper, Jonathan A. Bernstein, Gill Bejerano - Nature Genetics 2016 cited by 917

  5. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

    Authors: Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper - Human Genetics 2017 cited by 1,417

  6. Identifying Mendelian disease genes with the Variant Effect Scoring Tool

    Authors: Hannah Carter, Christopher Douville, Peter D. Stenson, D.N. Cooper, Rachel Karchin - BMC Genomics 2013 cited by 611

  7. Human Gene Mutation Database (HGMD®): 2003 update

    Authors: Peter D. Stenson, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Jacqueline A. Shiel, Nick Thomas, Shaun S. Abeysinghe, Michael Krawczak, D.N. Cooper - Human Mutation 2003 cited by 1,866

  8. Phylogenomic analyses provide insights into primate evolution

    Authors: Yong Shao, Long Zhou, Li Fang, Lan Zhao, Baolin Zhang, Feng Shao, Jiawei Chen, Chunyan Chen, Xupeng Bi, Xiao-Lin Zhuang, Hongliang Zhu, Jiang Hu, Zongyi Sun, Xin Li, Depeng Wang, Iker Rivas-González, Sheng Wang, Yun-Mei Wang, Wu Chen, Gang Li, Hui‐Meng Lu, Yang Liu, Lukas F. K. Kuderna, Kyle Kai‐How Farh, Pengfei Fan, Li Yu, Ming Li, Zhijin Liu, George P. Tiley, Anne D. Yoder, Christian Roos, Takashi Hayakawa, Tomàs Marquès‐Bonet, Jeffrey Rogers, Peter D. Stenson, D.N. Cooper, Mikkel Heide Schierup, Yong‐Gang Yao, Ya‐Ping Zhang, Wen Wang, Xiao‐Guang Qi, Guojie Zhang, Dong‐Dong Wu - Science 2023 cited by 169

  9. The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

    Authors: Dominik G. Grimm, Chloé‐Agathe Azencott, Fabian Aicheler, Udo Gieraths, Daniel G. MacArthur, Kaitlin E. Samocha, D.N. Cooper, Peter D. Stenson, Mark J. Daly, Jordan W. Smoller, Laramie E. Duncan, Karsten Borgwardt - Human Mutation 2015 cited by 393

  10. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

    Authors: Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper - Human Genetics 2013 cited by 1,377

  11. The mutation significance cutoff: gene-level thresholds for variant predictions

    Authors: Yuval Itan, Lei Shang, Bertrand Boisson, Michael J. Ciancanelli, Janet Markle, Rubén Martínez‐Barricarte, Eric Scott, Ishaan Shah, Peter D. Stenson, Joseph G. Gleeson, D.N. Cooper, Lluís Quintana‐Murci, Shen‐Ying Zhang, Laurent Abel, Jean‐Laurent Casanova - Nature Methods 2016 cited by 327

  12. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

    Authors: Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Ethan Steinberg, Karthik A. Jagadeesh, Alexander Ratner, Harendra Guturu, Aaron M. Wenger, Mark Diekhans, Peter D. Stenson, D.N. Cooper, Christopher Ré, Alan H. Beggs, Jonathan A. Bernstein, Gill Bejerano - Science Translational Medicine 2020 cited by 125

  13. Effect of predicted protein-truncating genetic variants on the human transcriptome

    Authors: Manuel A. Rivas, Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski, Julian Maller, Kimberly R. Kukurba, David S. DeLuca, Menachem Fromer, Pedro G. Ferreira, Kevin S. Smith, Rui Zhang, Fengmei Zhao, Eric Banks, Ryan Poplin, Douglas M. Ruderfer, Shaun Purcell, Taru Tukiainen, Eric Vallabh Minikel, Peter D. Stenson, D.N. Cooper, Katharine H. Huang, Timothy J. Sullivan, Jared L. Nedzel, Carlos D. Bustamante, Jin Billy Li, Mark J. Daly, Roderic Guigó, Peter Donnelly, Kristin Ardlie, Michael Sammeth, Emmanouil T. Dermitzakis, Mark I. McCarthy, Stephen B. Montgomery, Tuuli Lappalainen, Daniel G. MacArthur, Ayellet V. Segrè, Taylor Young, Ellen Gelfand, Casandra A. Trowbridge, Lucas D. Ward, Pouya Kheradpour, Benjamin Iriarte, Yan Meng, Cameron D. Palmer, Tõnu Esko, Wendy Winckler, Joel N. Hirschhorn, Manolis Kellis, Gad Getz, Andrey A. Shablin, Gen Li, Yi‐Hui Zhou, Andrew B. Nobel, Ivan Rusyn, Fred A. Wright, Alexis Battle, Sara Mostafavi, Marta Melé, Ferrán Reverter, Jakob M. Goldmann, Daphne Koller, Eric R. Gamazon, Hae Kyung Im, Anuar Konkashbaev, Dan L. Nicolae, Nancy J. Cox, Timothe Flutre, Xiaoquan Wen, Matthew Stephens, Jonathan K. Pritchard, Zhidong Tu, Bin Zhang, Tao Huang, Quan Long, Luan Lin, Jialiang Yang, Jun Zhu, Jun S. Liu, Amanda Brown, Bernadette Mestichelli, Denee Tidwell, Edmund Lo, Mike Salvatore, Saboor Shad, Jeffrey A. Thomas, John T. Lonsdale, Roswell Christopher Choi, Ellen Karasik, Kimberly Ramsey, Michael T. Moser, Barbara A. Foster, Bryan M. Gillard, John Syron, Johnelle Fleming, Harold I. Magazine, Rick Hasz, Gary Walters, Jason Bridge and 98 more - Science 2015 cited by 345

  14. The human gene damage index as a gene-level approach to prioritizing exome variants

    Authors: Yuval Itan, Lei Shang, Bertrand Boisson, Étienne Patin, Alexandre Bolze, Marcela Moncada‐Vélez, Eric Scott, Michael J. Ciancanelli, Fabien G. Lafaille, Janet Markle, Rubén Martínez‐Barricarte, Sarah Jill de Jong, Xiao‐Fei Kong, Patrick Nitschké, Aziz Belkadi, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Peter D. Stenson, Joseph G. Gleeson, D.N. Cooper, Lluís Quintana‐Murci, Jean‐Michel Claverie, Shen‐Ying Zhang, Laurent Abel, Jean‐Laurent Casanova - National Academy of Sciences, Proceedings of the National Academy of Sciences 2015 cited by 279

  15. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

    Authors: Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta - The American Journal of Human Genetics 2022 cited by 85

  16. Insights into hominid evolution from the gorilla genome sequence

    Authors: Aylwyn Scally, Julien Y. Dutheil, LaDeana W. Hillier, Gregory E. Jordan, Ian Goodhead, Javier Herrero, Asger Hobolth, Tuuli Lappalainen, Thomas Mailund, Tomàs Marquès‐Bonet, Shane McCarthy, Stephen H. Montgomery, Petra Schwalie, Amy Tang, Michelle C. Ward, Yali Xue, Bryndís Yngvadóttir, Can Alkan, Lars Nørvang Andersen, Qasim Ayub, Edward V. Ball, Kathryn Beal, Brenda J. Bradley, Yuan Chen, Chris M. Clee, Stephen Fitzgerald, Tina Graves, Yong Gu, P. D. Heath, Andreas Heger, Emre Karakoç, Anja Kolb‐Kokocinski, Gavin K. Laird, Gerton Lunter, Stephen Meader, Matthew Mort, James C. Mullikin, Kasper Munch, Timothy D. O’Connor, Andrew D. Phillips, Javier Prado-Martinez, Anthony S. Rogers, Saba Sajjadian, Dominic Schmidt, Katy Shaw, Jared T. Simpson, Peter D. Stenson, Daniel J. Turner, Linda Vigilant, Albert J. Vilella, Weldon Whitener, Baoli Zhu, D.N. Cooper, Pieter de Jong, Emmanouil T. Dermitzakis, Evan E. Eichler, Paul Flicek, Nick Goldman, Nicholas I. Mundy, Zemin Ning, Duncan T. Odom, Chris P. Ponting, Michael A. Quail, Oliver A. Ryder, Stephen M. J. Searle, Wesley C. Warren, Richard K. Wilson, Mikkel Heide Schierup, Jane Rogers, Chris Tyler‐Smith, Richard Durbin - Nature 2012 cited by 814

  17. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

    Authors: Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan Felipe Beltrán, Christen A. Rivera-Erick, Kaixiong Ye, Ting‐Yi Wang, Yao Li, Matthew Mort, Peter D. Stenson, D.N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu - Nature Communications 2019 cited by 78

  18. Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

    Authors: Çiğdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary, Girish N. Nadkarni, Tielman Van Vleck, Anne Puel, Stéphanie Boisson‐Dupuis, Satoshi Okada, Peter D. Stenson, D.N. Cooper, Avner Schlessinger, Yuval Itan - The American Journal of Human Genetics 2021 cited by 56

  19. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

    Authors: David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, D.N. Cooper, Avner Schlessinger, Yuval Itan - Genome Medicine 2023 cited by 48

  20. Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel)

    Authors: Christopher Douville, David L. Masica, Peter D. Stenson, D.N. Cooper, Derek M. Gygax, Rick Kim, Michaël Ryan, Rachel Karchin - Human Mutation 2015 cited by 150

  21. mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome

    Authors: Michael J. Meyer, Ryan Lapcevic, Alfonso E. Romero, Mark Yoon, Jishnu Das, Juan Felipe Beltrán, Matthew Mort, Peter D. Stenson, D.N. Cooper, Alberto Paccanaro, Haiyuan Yu - Human Mutation 2016 cited by 142

  22. Genome-wide detection of human variants that disrupt intronic branchpoints

    Authors: Peng Zhang, Quentin Philippot, Weicheng Ren, Wei‐Te Lei, Juan Li, Peter D. Stenson, Pere Soler‐Palacín, Roger Colobrán, Bertrand Boisson, Shen‐Ying Zhang, Anne Puel, Qiang Pan‐Hammarström, Qian Zhang, D.N. Cooper, Laurent Abel, Jean‐Laurent Casanova - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 cited by 46

  23. The Human Gene Mutation Database: 2008 update

    Authors: Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Howells, Andrew D. Phillips, Nick Thomas, D.N. Cooper - Genome Medicine 2009 cited by 883

  24. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

    Authors: D.N. Cooper, Matthew Mort, Peter D. Stenson, Edward V. Ball, Nadia Chuzhanova - Human Genomics 2010 cited by 156