Peter N. Robinson
Active 1996–2026
- Also published as
- Peter N Robinson
- 258
- Papers
- 28,454
- Citations
- 89
- h-index
- 205
- i10-index
Citations
Citation sources
Countries
Institutions
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
- Melissa Haendel44
- Sebastian Köhler41
- Chris Mungall40
- Giorgio Valentini39
- Elena Casiraghi35
- Damian Smedley33
- Justin Reese28
- Julius O.B. Jacobsen27
- Stefan Mundlos27
- Tiffany J. Callahan27
- Daniel Daniš26
- Julie A. McMurry25
- Nicolas Matentzoglu23
- Nomi L. Harris23
- Tudor Groza23
- Sebastian Bauer21
- Christopher G. Chute20
- Justin T. Reese20
- Leigh Carmody20
- Nicole Vasilevsky18
- Peter Krawitz18
- Melissa A. Haendel17
- Christopher J. Mungall16
- Gareth Baynam16
All papers
- The Human Phenotype Ontology in 2021
Authors: Sebastian Köhler, Michael A. Gargano, Nicolas Matentzoglu, Leigh Carmody, David Lewis-Smith, Nicole A. Vasilevsky, Daniel Danis, Ganna Balagura, Gareth Baynam, Amy M. Brower, Tiffany J. Callahan, Christopher G. Chute, Johanna L. Est, Peter D. Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Julia Pazmandi, Marc Hanauer, Nomi L. Harris, Michael Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongqun He, Tim Jeske, Hugh Kearney, Gerhard Kindle, Christoph Klein, Katrin Knoflach, Roland Krause, 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
- How many rare diseases are there?
Authors: Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi L. Harris, Heidi L. Rehm, Ada Hamosh, Gareth Baynam, Tudor Groza, Julie A. McMurry, Hugh Dawkins, Ana Rath, Courtney Thaxton, Giovanni Bocci, Marcin P. Joachimiak, Sebastian Köhler, Peter N. Robinson, Chris Mungall, Tudor I. Oprea - Nature Reviews Drug Discovery 2019 cited by 586
- The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment
Authors: Melissa A. Haendel, Christopher G. Chute, Tellen D. Bennett, David A. Eichmann, Justin Guinney, Warren A. Kibbe, Philip R. O. Payne, Emily R. Pfaff, Peter N. Robinson, Joel H. Saltz, Heidi Spratt, Christine Suver, John Wilbanks, Adam B. Wilcox, Andrew E. Williams, Chunlei Wu, Clair Blacketer, Robert L. Bradford, James J. Cimino, Marshall Clark, Evan W. Colmenares, Patricia A. Francis, Davera Gabriel, Alexis Graves, Raju Hemadri, Stephanie S. Hong, George Hripcsak, Dazhi Jiao, Jeffrey G. Klann, Kristin Kostka, 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
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
Authors: Peter N. Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos - The American Journal of Human Genetics 2008 cited by 1,057
- Next-generation diagnostics and disease-gene discovery with the Exomiser
Authors: Damian Smedley, Julius O.B. Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Żemojtel, Orion J. Buske, Nicole Washington, William P. Bone, Melissa Haendel, Peter N. Robinson - Nature Protocols 2015 cited by 466
- Mondo: Unifying diseases for the world, by the world
Authors: Nicole Vasilevsky, Nicolas Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak Unni, Gioconda Alyea, Joanna Amberger, Lawrence Babb, James P. Balhoff, Taylor I. Bingaman, Gully Burns, Orion J. Buske, Tiffany J. Callahan, Leigh Carmody, Paula Carrio-Cordo, Lauren Chan, George S Chang, S. Christiaens, Michel Dumontier, Laura Failla, May J Flowers, H. Alpha Garrett, Jennifer Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L. Harris, Jason A. Hilton, Daniel Himmelstein, 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
- Walking the Interactome for Prioritization of Candidate Disease Genes
Authors: Sebastian Köhler, Sebastian Bauer, Denise Horn, Peter N. Robinson - The American Journal of Human Genetics 2008 cited by 1,298
- The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
Authors: Christopher J. Mungall, Julie A. McMurry, Sebastian Köhler, James P. Balhoff, Charles D. Borromeo, Matthew H. Brush, Seth Carbon, Tom Conlin, Nathan A. Dunn, Mark Engelstad, Erin Foster, Jean-Philippe F. Gourdine, Julius O. B. Jacobsen, Dan Keith, Bryan Laraway, Suzanna E. Lewis, Jeremy NguyenXuan, Kent A. Shefchek, Nicole A. Vasilevsky, Zhou Yuan, Nicole L. Washington, Harry Hochheiser, Tudor Groza, Damian Smedley, Peter N. Robinson, Melissa A. Haendel - Nucleic Acids Research, Nucleic Acids Res. 2016 cited by 486
- Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes
Authors: Justin Reese, Hannah Blau, Elena Casiraghi, Timothy Bergquist, Johanna Loomba, Tiffany J. Callahan, Bryan Laraway, Corneliu Antonescu, Ben Coleman, Michael Gargano, Kenneth J. Wilkins, Luca Cappelletti, Tommaso Fontana, Nariman Ammar, Blessy Antony, T. M. Murali, J. Harry Caufield, Guy Karlebach, Julie A. McMurry, Andrew E. Williams, Richard A. Moffitt, Jineta Banerjee, Anthony Solomonides, Hannah Davis, Kristin Kostka, Giorgio Valentini, David Sahner, Christopher G. Chute, Charisse Madlock‐Brown, Melissa Haendel, 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
- The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Authors: Kent A. Shefchek, Nomi L. Harris, Michael A. Gargano, Nicolas Matentzoglu, Deepak R. Unni, Matthew H. Brush, Dan Keith, Tom Conlin, Nicole A. Vasilevsky, Xingmin Aaron Zhang, James P. Balhoff, Larry Babb, Susan M. Bello, Hannah Blau, Yvonne M. Bradford, Seth Carbon, Leigh Carmody, Lauren E. Chan, Valentina Cipriani, Alayne Cuzick, Maria G. Della Rocca, Nathan A. Dunn, Shahim Essaid, Petra Fey, Christian A. Grove, Jean-Philippe F. Gourdine, Ada Hamosh, Midori A. Harris, Ingo Helbig, Maureen E. Hoatlin, 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
- Classification, Ontology, and Precision Medicine
Authors: Melissa Haendel, Christopher G. Chute, Peter N. Robinson - New England Journal of Medicine 2018 cited by 329
- The Human Phenotype Ontology in 2017
Authors: Sebastian Köhler, Nicole A. Vasilevsky, Mark Engelstad, Erin Foster, Julie A. McMurry, Ségolène Aymé, Gareth Baynam, Susan M. Bello, Cornelius F. Boerkoel, Kym M. Boycott, Michael Brudno, Orion J. Buske, Patrick F. Chinnery, Valentina Cipriani, Laureen E. Connell, Hugh J. S. Dawkins, Laura E. DeMare, Andrew Devereau, Bert B. A. de Vries, Helen V. Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johanna Jähn, Roger James, Roland Krause, Stanley J. F. Laulederkind, Hanns Lochmüller, 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
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Authors: Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ãngel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, 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
- The GA4GH Phenopacket schema defines a computable representation of clinical data
Authors: Julius O.B. Jacobsen, Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske, Tiffany J. Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Daniš, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael Gargano, Tudor Groza, Ada Hamosh, Nomi L. Harris, Rajaram Kaliyaperumal, K. C. Kent Lloyd, Aly Khalifa, Peter Krawitz, Sebastian Köhler, Bryan Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A. McMurry, Alejandro Metke‐Jimenez, Chris Mungall, Mónica Muñoz-Torres, Soichi Ogishima, 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
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Authors: Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O. M. Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Gîrdea, Michael Gonzalez, Melissa Haendel, Ada Hamosh, Ingrid A. Holm, Lijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Chris Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, François Schiettecatte, 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
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Authors: Sebastian Köhler, Leigh Carmody, Nicole A. Vasilevsky, Julius O. B. Jacobsen, Daniel Danis, Jean-Philippe F. Gourdine, Michael A. Gargano, Nomi L. Harris, Nicolas Matentzoglu, Julie A. McMurry, David Osumi-Sutherland, Valentina Cipriani, James P. Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, Richard Palmer, Dylan Gratian, Hugh J. S. Dawkins, Michael Segal, Anna C. Jansen, Ahmed Muaz, Willie H. Chang, Jenna Bergerson, Stanley J. F. Laulederkind, Zafer Yüksel, Sergi Beltran, Alexandra F. Freeman, Panagiotis I. Sergouniotis, Daniel Durkin, 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
- Deep phenotyping for precision medicine
Authors: Peter N. Robinson - Human Mutation 2012 cited by 482
- The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species
Authors: Tim Putman, Kevin Schaper, Nicolas Matentzoglu, Vincent Rubinetti, Faisal Alquaddoomi, Corey Cox, J. Harry Caufield, Glass Elsarboukh, Sarah Gehrke, Harshad Hegde, Justin Reese, Ian Braun, Richard Bruskiewich, Luca Cappelletti, Seth Carbon, Anita R. Caron, Lauren Chan, Christopher G. Chute, Katherina G Cortes, Vinícius de Souza, Tommaso Fontana, Nomi L. Harris, Emily Hartley, Eric Hurwitz, Julius O.B. Jacobsen, Madan Krishnamurthy, Bryan Laraway, James Alastair McLaughlin, Julie A. McMurry, Sierra Moxon, 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
- Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
Authors: Peter N. Robinson - Genome Biology 2010 cited by 214
- Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Authors: Sebastian Köhler, Marcel H. Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus‐Eric Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N. Robinson - The American Journal of Human Genetics 2009 cited by 623
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Authors: Damian Smedley, Max Schubach, Julius O.B. Jacobsen, Sebastian Köhler, Tomasz Żemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole Washington, Julie A. McMurry, Melissa Haendel, Chris Mungall, Suzanna Lewis, Tudor Groza, Giorgio Valentini, Peter N. Robinson - The American Journal of Human Genetics 2016 cited by 295
- Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning
Authors: J. Harry Caufield, Harshad Hegde, Vincent Emonet, Nomi L. Harris, Marcin P. Joachimiak, Nicolas Matentzoglu, Hyeongsik Kim, Sierra A. T. Moxon, Justin T. Reese, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall - Bioinformatics, Bioinform. 2024 cited by 104
- PhenoTagger: A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology
Authors: Ling Luo, Shankai Yan, Po-Ting Lai, Daniel Veltri, Andrew J. Oler, Sandhya Xirasagar, Rajarshi Ghosh, Morgan Similuk, Peter N. Robinson, Zhiyong Lu - Bioinformatics, Bioinform. 2021 cited by 77
- Phenolyzer: phenotype-based prioritization of candidate genes for human diseases
Authors: Hui Yang, Peter N. Robinson, Kai Wang - Nature Methods 2015 cited by 439
