Peter N. Robinson

Active 1996–2026

Also published as
Peter N Robinson
258
Papers
28,454
Citations
89
h-index
205
i10-index

Citations

Citations per year for Peter N. Robinson1967: 1 citations1981: 1 citations1982: 1 citations1984: 1 citations1987: 4 citations1988: 2 citations1991: 1 citations1996: 1 citations1998: 2 citations1999: 11 citations2000: 15 citations2001: 24 citations2002: 31 citations2003: 27 citations2004: 24 citations2005: 46 citations2006: 48 citations2007: 64 citations2008: 81 citations2009: 112 citations2010: 166 citations2011: 232 citations2012: 241 citations2013: 264 citations2014: 278 citations2015: 455 citations2016: 527 citations2017: 497 citations2018: 558 citations2019: 1,033 citations2020: 1,036 citations2021: 1,111 citations2022: 1,170 citations2023: 944 citations2024: 1,303 citations2025: 723 citations2026: 98 citations1968–1980: no citations, so these years are not shown1983: no citations, so this year is not shown1985–1986: no citations, so these years are not shown1989–1990: no citations, so these years are not shown1992–1995: no citations, so these years are not shown1997: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 3,515 citing papers, 23.6% of this breakdownUnited Kingdom: 1,393 citing papers, 9.3% of this breakdownGermany: 1,096 citing papers, 7.3% of this breakdownChina: 987 citing papers, 6.6% of this breakdownCanada: 635 citing papers, 4.3% of this breakdownFrance: 622 citing papers, 4.2% of this breakdownItaly: 575 citing papers, 3.9% of this breakdownNetherlands: 556 citing papers, 3.7% of this breakdownAustralia: 536 citing papers, 3.6% of this breakdownSpain: 466 citing papers, 3.1% of this breakdownJapan: 307 citing papers, 2.1% of this breakdownSwitzerland: 290 citing papers, 1.9% of this breakdown
0%23.6%Other 26.4%

Fields

  • Biochemistry, Genetics and Molecular Biology60.9%
  • Medicine18.9%
  • Computer Science8.9%
  • Immunology and Microbiology2.9%
  • Neuroscience1.8%
  • Agricultural and Biological Sciences1.4%
  • Other5.2%

Topics

  • Bioinformatics and Genomic Networks6.8%
  • Genomics and Rare Diseases6.6%
  • Biomedical Text Mining and Ontologies5.9%
  • Gene expression and cancer classification2.8%
  • Genetic Associations and Epidemiology1.9%
  • Connective tissue disorders research1.9%
  • Other74.1%

Coauthors

All papers

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  1. The Human Phenotype Ontology in 2021

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , David Lagorce, Julie A. McMurry, Jillian A. Miller, Monica C. Munoz-Torres, Rebecca L. Peters, Christina K. Rapp, Ana Rath, Shahmir A. Rind, Avi Z. Rosenberg, Michael M. Segal, Markus G. Seidel, Damian Smedley, Tomer Talmy, Yarlalu Thomas, Samuel A. Wiafe, Julie Xian, Zafer Yüksel, Ingo Helbig, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2020 cited by 1,240

  2. How many rare diseases are there?

    Authors: , , , , , , , , , , , , , , , , , , - Nature Reviews Drug Discovery 2019 cited by 586

  3. The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Adam M. Lee, Harold P. Lehmann, Lora Lingrey, Robert T. Miller, Michele Morris, Shawn N. Murphy, Karthik Natarajan, Matvey B. Palchuk, Usman Sheikh, Harold Solbrig, Shyam Visweswaran, Anita Walden, Kellie M. Walters, Griffin M. Weber, Xiaohan Tanner Zhang, Richard L. Zhu, Benjamin R. C. Amor, Andrew T. Girvin, Amin Manna, Nabeel Qureshi, Michael G. Kurilla, Sam G. Michael, Lili M. Portilla, Joni L. Rutter, Christopher P. Austin, Kenneth R. Gersing - Journal of the American Medical Informatics Association, J. Am. Medical Informatics Assoc. 2020 cited by 588

  4. The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

    Authors: , , , , , - The American Journal of Human Genetics 2008 cited by 1,057

  5. Next-generation diagnostics and disease-gene discovery with the Exomiser

    Authors: , , , , , , , , , , , , - Nature Protocols 2015 cited by 466

  6. Mondo: Unifying diseases for the world, by the world

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Charles Tapley Hoyt, Megan Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna Maglott, Adriana J Malheiro, Birgit Meldal, Mónica Muñoz-Torres, Tristan Nelson, F. W. Nicholas, David Ochoa, Daniel Olson, Tudor I. Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L. Rehm, Lyubov Remennik, Erin Rooney Riggs, Paola Roncaglia, Justyne Ross, Marion Shadbolt, Kent Shefchek, Morgan Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L. Storm, Doron Stupp, Gregory S. Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, D. K. C. Tay, Courtney Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H. Wagner, Danielle Welter, Patricia L. Whetzel, Lori Whiteman, Valerie Wood, Colleen Xu, Andreas Zankl, Xingmin Zhang, Christopher G. Chute, Peter N. Robinson, Chris Mungall, Ada Hamosh, Melissa Haendel - medRxiv 2022 cited by 102

  7. Walking the Interactome for Prioritization of Candidate Disease Genes

    Authors: , , , - The American Journal of Human Genetics 2008 cited by 1,298

  8. The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , - Nucleic Acids Research, Nucleic Acids Res. 2016 cited by 486

  9. Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Peter N. Robinson, Heidi Spratt, Shyam Visweswaran, Joseph E Flack, Yun Jae Yoo, Davera Gabriel, G. Caleb Alexander, Hemalkumar B. Mehta, Feifan Liu, Robert Miller, Rachel Wong, Elaine Hill, Lorna E. Thorpe, Jasmin Divers - EBioMedicine 2022 cited by 177

  10. The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Marcin P. Joachimiak, Simon Jupp, Kenneth B. Lett, Suzanna E. Lewis, Craig McNamara, Zoë May Pendlington, Clare Pilgrim, Tim E. Putman, Vida Ravanmehr, Justin T. Reese, Erin Rooney Riggs, Sofia M. C. Robb, Paola Roncaglia, James Seager, Erik Segerdell, Morgan Similuk, Andrea L. Storm, Courtney Thaxon, Anne E. Thessen, Julius O. B. Jacobsen, Julie A. McMurry, Tudor Groza, Sebastian Köhler, Damian Smedley, Peter N. Robinson, Christopher J. Mungall, Melissa A. Haendel, Monica C. Munoz-Torres, David Osumi-Sutherland - Nucleic Acids Research, Nucleic Acids Res. 2019 cited by 265

  11. Classification, Ontology, and Precision Medicine

    Authors: , , - New England Journal of Medicine 2018 cited by 329

  12. The Human Phenotype Ontology in 2017

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Gholson J. Lyon, Soichi Ogishima, Annie Olry, Willem H. Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H. Scott, Michael Segal, Panagiotis I. Sergouniotis, Richard Sever, Cynthia L. Smith, Volker Straub, Rachel Thompson, Catherine Turner, Ernest Turro, Marijcke W. M. Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Zemojtel, Julius O. B. Jacobsen, Tudor Groza, Damian Smedley, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2016 cited by 801

  13. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller - The American Journal of Human Genetics 2017 cited by 453

  14. The GA4GH Phenopacket schema defines a computable representation of clinical data

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosiñach, Marco Roos, Julian Saß, Paul N. Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M. Swietlik, Sylvia Thun, Nicole Vasilevsky, Alex H. Wagner, Jeremy L. Warner, Claus Weiland, Myles Axton, Lawrence Babb, Cornelius F. Boerkoel, Bimal P. Chaudhari, Hui‐Lin Chin, Michel Dumontier, Nour Gazzaz, David P. Hansen, Harry Hochheiser, Veronica A. Kinsler, Hanns Lochmüller, Alexander Mankovich, Gary Saunders, Panagiotis I. Sergouniotis, Rachel Thompson, Andreas Zankl, Melissa Haendel, Peter N. Robinson - Nature Biotechnology 2022 cited by 111

  15. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Nara Sobreira, G. Jawahar Swaminathan, Peter E.M. Taschner, Sharon F. Terry, Nicole Washington, Stephan Züchner, Kym M. Boycott, Heidi L. Rehm - Human Mutation 2015 cited by 488

  16. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Andrea L. Storm, Marc Hanauer, Michael Brudno, Susan M. Bello, Murat Sincan, Kayli Rageth, Matthew T. Wheeler, Renske Oegema, Halima Lourghi, Maria G. Della Rocca, Rachel Thompson, Francisco Castellanos, James Priest, Charlotte Cunningham-Rundles, Ayushi Hegde, Ruth C. Lovering, Catherine Hajek, Annie Olry, Luigi Notarangelo, Morgan Similuk, Xingmin Aaron Zhang, David Gómez-Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen Sullivan, Cynthia L. Smith, Joshua D. Milner, Dorothée Leroux, Cornelius F. Boerkoel, Amy Klion, Melody C. Carter, Tudor Groza, Damian Smedley, Melissa A. Haendel, Chris Mungall, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2018 cited by 737

  17. Deep phenotyping for precision medicine

    Authors: - Human Mutation 2012 cited by 482

  18. The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Kathleen R. Mullen, Shawn T. O’Neil, Kent Shefchek, Ray Stefancsik, Sabrina Toro, Nicole Vasilevsky, Ramona Walls, Patricia L. Whetzel, David Osumi-Sutherland, Damian Smedley, Peter N. Robinson, Chris Mungall, Melissa Haendel, Mónica Muñoz-Torres - Nucleic Acids Research 2023 cited by 105

  19. Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

    Authors: - Genome Biology 2010 cited by 214

  20. Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

    Authors: , , , , , , , , , - The American Journal of Human Genetics 2009 cited by 623

  21. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

    Authors: , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2016 cited by 295

  22. Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning

    Authors: , , , , , , , , , , , - Bioinformatics, Bioinform. 2024 cited by 104

  23. PhenoTagger: A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology

    Authors: , , , , , , , , , - Bioinformatics, Bioinform. 2021 cited by 77

  24. Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

    Authors: , , - Nature Methods 2015 cited by 439