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Peter D. Stenson

2000–2025 年に発表

56
論文数
26,439
被引用数
46
h 指数
54
i10 指数

被引用数

Peter D. Stenson の年別被引用数1951 年: 被引用 1 件1984 年: 被引用 1 件1987 年: 被引用 1 件1998 年: 被引用 2 件2000 年: 被引用 6 件2001 年: 被引用 8 件2002 年: 被引用 8 件2003 年: 被引用 9 件2004 年: 被引用 28 件2005 年: 被引用 49 件2006 年: 被引用 65 件2007 年: 被引用 42 件2008 年: 被引用 52 件2009 年: 被引用 67 件2010 年: 被引用 71 件2011 年: 被引用 77 件2012 年: 被引用 121 件2013 年: 被引用 160 件2014 年: 被引用 145 件2015 年: 被引用 194 件2016 年: 被引用 362 件2017 年: 被引用 591 件2018 年: 被引用 645 件2019 年: 被引用 1,736 件2020 年: 被引用 1,348 件2021 年: 被引用 956 件2022 年: 被引用 694 件2023 年: 被引用 479 件2024 年: 被引用 771 件2025 年: 被引用 308 件2026 年: 被引用 31 件1952〜1983 年は被引用が無いため表示していません1985〜1986 年は被引用が無いため表示していません1988〜1997 年は被引用が無いため表示していません1999 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 4,231 件、この内訳の 23.2%イギリス: 引用元論文 1,606 件、この内訳の 8.8%ドイツ: 引用元論文 1,111 件、この内訳の 6.1%中国: 引用元論文 909 件、この内訳の 5%フランス: 引用元論文 832 件、この内訳の 4.6%カナダ: 引用元論文 808 件、この内訳の 4.4%オランダ: 引用元論文 678 件、この内訳の 3.7%イタリア: 引用元論文 663 件、この内訳の 3.6%オーストラリア: 引用元論文 626 件、この内訳の 3.4%スペイン: 引用元論文 512 件、この内訳の 2.8%スウェーデン: 引用元論文 373 件、この内訳の 2.1%日本: 引用元論文 365 件、この内訳の 2%
0%23.2%その他 30.3%

機関

分野

  • Biochemistry, Genetics and Molecular Biology63.2%
  • Medicine24.2%
  • Neuroscience4.3%
  • Immunology and Microbiology3.1%
  • Agricultural and Biological Sciences1.6%
  • Computer Science1%
  • その他2.6%

トピック

  • 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%
  • その他74.5%

共著者

全論文

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

    著者: 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 被引用: 10,435

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

    著者: 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 被引用: 825

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

    著者: 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 被引用: 1,405

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

    著者: 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 被引用: 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

    著者: 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 被引用: 1,417

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

    著者: Hannah Carter, Christopher Douville, Peter D. Stenson, D.N. Cooper, Rachel Karchin - BMC Genomics 2013 被引用: 611

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

    著者: 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 被引用: 1,866

  8. Phylogenomic analyses provide insights into primate evolution

    著者: 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 被引用: 169

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

    著者: 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 被引用: 393

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

    著者: Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper - Human Genetics 2013 被引用: 1,377

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

    著者: 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 被引用: 327

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

    著者: 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 被引用: 125

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

    著者: 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 ほか 98 名 - Science 2015 被引用: 345

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

    著者: 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 被引用: 279

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

    著者: 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 被引用: 85

  16. Insights into hominid evolution from the gorilla genome sequence

    著者: 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 被引用: 814

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

    著者: 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 被引用: 78

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

    著者: 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 被引用: 56

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

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

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

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

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

    著者: 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 被引用: 142

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

    著者: 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 被引用: 46

  23. The Human Gene Mutation Database: 2008 update

    著者: Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Howells, Andrew D. Phillips, Nick Thomas, D.N. Cooper - Genome Medicine 2009 被引用: 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

    著者: D.N. Cooper, Matthew Mort, Peter D. Stenson, Edward V. Ball, Nadia Chuzhanova - Human Genomics 2010 被引用: 156