Peter N. Robinson

Publication Activity (10 Years)

Years Active: 2004-2024
Publications (10 Years): 56

Top Topics

Gene Regulatory

Environmental Conditions

Top Venues

Nucleic Acids Res.

J. Biomed. Semant.

Publications

Lauren E. Chan, Elena Casiraghi, Justin T. Reese, Quaker E. Harmon, Kevin Schaper, Harshad Hegde, Giorgio Valentini, Charles Schmitt, Alison A. Motsinger-Reif, Janet E. Hall, Christopher J. Mungall, Peter N. Robinson, Melissa A. Haendel
Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests. Int. J. Medical Informatics 187 (2024)
Tudor Groza, J. Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese
An evaluation of GPT models for phenotype concept recognition. BMC Medical Informatics Decis. Mak. 24 (1) (2024)
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
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning. Bioinform. 40 (3) (2024)
Guy Karlebach, Peter N. Robinson
Computing Minimal Boolean Models of Gene Regulatory Networks. J. Comput. Biol. 31 (2) (2024)
Marco Nicolini, Dario Malchiodi, Alberto Cabri, Emanuele Cavalleri, Marco Mesiti, Alberto Paccanaro, Peter N. Robinson, Justin T. Reese, Elena Casiraghi, Giorgio Valentini
Fine-Tuning of Conditional Transformers Improves the Generation of Functionally Characterized Proteins. BIOSTEC (1) (2024)
Anando Sen, Victoria Hedley, Eva Degraeuwe, Steven Hirschfeld, Ronald Cornet, Ramona Walls, John Owen, Peter N. Robinson, Edward G. Neilan, Thomas Liener, Giovanni Nisato, Neena Modi, Simon Woodworth, Avril Palmeri, Ricarda Gaentzsch, Melissa Walsh, Teresa Berkery, Joanne Lee, Laura Persijn, Kasey Baker, Kristina An Haack, Sonia Segovia Simon, Julius O. B. Jacobsen, Giorgio Reggiardo, Melissa A. Kirwin, Jessie Trueman, Claudia Pansieri, Donato Bonifazi, Sinéad Nally, Fedele Bonifazi, Rebecca Leary, Volker Straub
Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data. Data 9 (4) (2024)
Emanuele Cavalleri, Mauricio Soto Gomez, Ali Pashaeibarough, Dario Malchiodi, J. Harry Caufield, Justin T. Reese, Christopher J. Mungall, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti
Initial achievements in relation extraction from RNA-focused scientific papers. SEBD (2024)
Tudor Groza, Honghan Wu, Marcel E. Dinger, Daniel Danis, Coleman Hilton, Anita Bagley, Jon R. Davids, Ling Luo, Zhiyong Lu, Peter N. Robinson
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts. Bioinform. 39 (12) (2023)
Luca Cappelletti, Stefano Taverni, Tommaso Fontana, Marcin P. Joachimiak, Justin T. Reese, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini
Degree-Normalization Improves Random-Walk-Based Embedding Accuracy in PPI Graphs. IWBBIO (2) (2023)
Tiffany J. Callahan, Adrianne L. Stefanski, Jordan M. Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M. Banda, William A. Baumgartner Jr., Richard D. Boyce, Elena Casiraghi, Ben D. Coleman, Janine H. Collins, Sara J. Deakyne Davies, James A. Feinstein, Asiyah Y. Lin, Blake Martin, Nicolas A. Matentzoglu, Daniella Meeker, Justin T. Reese, Jessica Sinclair, Sanya Bathla Taneja, Katy E. Trinkley, Nicole A. Vasilevsky, Andrew E. Williams, Xingmin Aaron Zhang, Joshua C. Denny, Patrick B. Ryan, George Hripcsak, Tellen D. Bennett, Melissa A. Haendel, Peter N. Robinson, Lawrence E. Hunter, Michael G. Kahn
Ontologizing health systems data at scale: making translational discovery a reality. npj Digit. Medicine 6 (2023)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J. Callahan, Carlos Cano, Marcin P. Joachimiak, Christopher J. Mungall, Peter N. Robinson, Justin T. Reese, Giorgio Valentini
GRAPE for fast and scalable graph processing and random-walk-based embedding. Nat. Comput. Sci. 3 (6) (2023)
Giorgio Valentini, Dario Malchiodi, Jessica Gliozzo, Marco Mesiti, Mauricio Soto Gomez, Alberto Cabri, Justin T. Reese, Elena Casiraghi, Peter N. Robinson
The promises of large language models for protein design and modeling. Frontiers Bioinform. 3 (2023)
Emanuele Cavalleri, Alberto Cabri, Mauricio Soto Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J. Callahan, Justin T. Reese, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti
RNA-KG: An ontology-based knowledge graph for representing interactions involving RNA molecules. CoRR (2023)
Elena Casiraghi, Rachel Wong, Margaret Hall, Ben D. Coleman, Marco Notaro, Michael D. Evans, Jena S. Tronieri, Hannah Blau, Bryan Laraway, Tiffany J. Callahan, Lauren E. Chan, Carolyn T. Bramante, John B. Buse, Richard A. Moffitt, Til Sturmer, Steven G. Johnson, Yu Raymond Shao, Justin Reese, Peter N. Robinson, Alberto Paccanaro, Giorgio Valentini, Jared D. Huling, Kenneth Wilkins
A method for comparing multiple imputation techniques: A case study on the U.S. national COVID cohort collaborative. J. Biomed. Informatics 139 (2023)
Guy Karlebach, Leigh Carmody, Jagadish Chandrabose Sundaramurthi, Elena Casiraghi, Peter Hansen, Justin T. Reese, Christopher J. Mungall, Giorgio Valentini, Peter N. Robinson
An expectation-maximization framework for comprehensive prediction of isoform-specific functions. Bioinform. 39 (4) (2023)
J. Harry Caufield, Tim E. Putman, Kevin Schaper, Deepak R. Unni, Harshad Hegde, Tiffany J. Callahan, Luca Cappelletti, Sierra A. T. Moxon, Vida Ravanmehr, Seth Carbon, Lauren E. Chan, Katherina Cortes, Kent A. Shefchek, Glass Elsarboukh, James P. Balhoff, Tommaso Fontana, Nicolas Matentzoglu, Richard M. Bruskiewich, Anne E. Thessen, Nomi L. Harris, Monica C. Munoz-Torres, Melissa A. Haendel, Peter N. Robinson, Marcin P. Joachimiak, Christopher J. Mungall, Justin T. Reese
KG-Hub - Building and Exchanging Biological Knowledge Graphs. CoRR (2023)
Lauren E. Chan, Anne E. Thessen, William D. Duncan, Nicolas Matentzoglu, Charles Schmitt, Cynthia J. Grondin, Nicole Vasilevsky, Julie A. McMurry, Peter N. Robinson, Christopher J. Mungall, Melissa A. Haendel
The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond. J. Biomed. Semant. 14 (1) (2023)
Tiffany J. Callahan, Ignacio J. Tripodi, Adrianne L. Stefanski, Luca Cappelletti, Sanya Bathla Taneja, Jordan M. Wyrwa, Elena Casiraghi, Nicolas A. Matentzoglu, Justin T. Reese, Jonathan C. Silverstein, Charles Tapley Hoyt, Richard D. Boyce, Scott A. Malec, Deepak R. Unni, Marcin P. Joachimiak, Peter N. Robinson, Christopher J. Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A. Gillenwater, Brook E. Santangelo, Nicole A. Vasilevsky, Robert Hoehndorf, Tellen D. Bennett, Patrick B. Ryan, George Hripcsak, Michael G. Kahn, Michael Bada, William A. Baumgartner Jr., Lawrence E. Hunter
An Open-Source Knowledge Graph Ecosystem for the Life Sciences. CoRR (2023)
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
Structured prompt interrogation and recursive extraction of semantics (SPIRES): A method for populating knowledge bases using zero-shot learning. CoRR (2023)
Tudor Groza, J. Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Chris Mungall, Justin T. Reese
An evaluation of GPT models for phenotype concept recognition. CoRR (2023)
Tiffany J. Callahan, Adrianne L. Stefanski, Jordan M. Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M. Banda, William A. Baumgartner Jr., Richard D. Boyce, Elena Casiraghi, Ben D. Coleman, Janine H. Collins, Sara J. Deakyne Davies, James A. Feinstein, Melissa A. Haendel, Asiyah Y. Lin, Blake Martin, Nicolas Matentzoglu, Daniella Meeker, Justin Reese, Jessica Sinclair, Sanya Bathla Taneja, Katy E. Trinkley, Nicole A. Vasilevsky, Andrew E. Williams, Xingman A. Zhang, Peter N. Robinson, Patrick Ryan, George Hripcsak, Tellen D. Bennett, Lawrence E. Hunter, Michael G. Kahn
Ontologizing Health Systems Data at Scale: Making Translational Discovery a Reality. CoRR (2022)
Shankai Yan, Ling Luo, Po-Ting Lai, Daniel Veltri, Andrew J. Oler, Sandhya Xirasagar, Rajarshi Ghosh, Morgan Similuk, Peter N. Robinson, Zhiyong Lu
PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology. J. Biomed. Informatics 129 (2022)
Elena Casiraghi, Rachel Wong, Margaret Hall, Ben D. Coleman, Marco Notaro, Michael D. Evans, Jena S. Tronieri, Hannah Blau, Bryan Laraway, Tiffany J. Callahan, Lauren E. Chan, Carolyn T. Bramante, John B. Buse, Richard A. Moffitt, Til Sturmer, Steven G. Johnson, Yu Raymond Shao, Justin Reese, Peter N. Robinson, Alberto Paccanaro, Giorgio Valentini, Jared D. Huling, Kenneth Wilkins
Tell Bennet, Christopher Chute, Peter DeWitt, Kenneth Gersing, Andrew Girvin, Melissa Haendel, Jeremy Harper, Janos Hajagos, Stephanie Hong, Emily Pfaff, Jane Reusch, Corneliu Antoniescu, Kimberly Robaski: A Methodological Framework for the Comparative Evaluation of Multiple Imputation Methods: Multiple Imputation of Race, Ethnicity and Body Mass Index in the U.S. National COVID Cohort Collaborative. CoRR (2022)
Julius O. B. Jacobsen, Catherine Kelly, Valentina Cipriani, Peter N. Robinson, Damian Smedley
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases. Briefings Bioinform. 23 (5) (2022)
Robin Steinhaus, Sebastian Proft, Evelyn Seelow, Tobias Schalau, Peter N. Robinson, Dominik Seelow
Deep phenotyping: symptom annotation made simple with SAMS. Nucleic Acids Res. 50 (W1) (2022)
Alessandro Petrini, Marco Notaro, Jessica Gliozzo, Tiziana Castrignanò, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini
ParSMURF-NG: A Machine Learning High Performance Computing System for the Analysis of Imbalanced Big Omics Data. AIAI Workshops (2022)
Jason A. Thomas, Randi E. Foraker, Noa Zamstein, Jon D. Morrow, Philip R. O. Payne, Adam B. Wilcox, Melissa A. Haendel, Christopher G. Chute, Kenneth R. Gersing, Anita Walden, Tellen D. Bennett, David A. Eichmann, Justin Guinney, Warren A. Kibbe, Hongfang Liu, Emily R. Pfaff, Peter N. Robinson, Joel H. Saltz, Heidi Spratt, Justin Starren, Christine Suver, Chunlei Wu, Davera Gabriel, Stephanie S. Hong, Kristin Kostka, Harold P. Lehmann, Richard A. Moffitt, Michele Morris, Matvey B. Palchuk, Xiaohan Tanner Zhang, Richard L. Zhu, Benjamin R. C. Amor, Mark M. Bissell, Marshall Clark, Andrew T. Girvin, Adam M. Lee, Robert T. Miller, Kellie M. Walters, Yooree Chae, Connor Cook, Alexandra Dest, Racquel R. Dietz, Thomas Dillon, Patricia A. Francis, Rafael Fuentes, Alexis Graves, Andrew J. Neumann, Shawn T. O'Neil, Usman Sheikh, Andréa M. Volz, Elizabeth Zampino, Christopher P. Austin, Samuel Bozzette, Mariam Deacy, Nicole Garbarini, Michael G. Kurilla, Sam G. Michael, Joni L. Rutter, Meredith Temple-O'Connor, Katie Rebecca Bradwell, Amin Manna, Nabeel Qureshi, Mary Morrison Saltz, Julie A. McMurry, Carolyn Bramante, Jeremy Richard Harper, Wenndy Hernandez, Farrukh M. Koraishy, Federico Mariona, Saidulu Mattapally, Amit Saha, Satyanarayana Vedula, Yujuan Fu, Nisha Mathews, Ofer Mendelevitch
Demonstrating an approach for evaluating synthetic geospatial and temporal epidemiologic data utility: results from analyzing >1.8 million SARS-CoV-2 tests in the United States National COVID Cohort Collaborative (N3C). J. Am. Medical Informatics Assoc. 29 (8) (2022)
Guy Karlebach, Peter N. Robinson
Computing Minimal Boolean Models of Gene Regulatory Networks. BIBM (2022)
Robin Steinhaus, Peter N. Robinson, Dominik Seelow
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding. Nucleic Acids Res. 50 (W1) (2022)
Feifan Liu, Noha Sharafeldin, Vithal Madhira, Katie R. Bradwell, Qianqian Song, Benjamin Bates, Yu R. Shao, Jing Su, Alfred Anzalone, Timothym Bergquist, Sarah Cutrona, Ben S. Gerber, Peter N. Robinson, Justin Guinney, Umit Topaloglu
COVID-19 Mortality Prediction among Patients with Cancer Using a Large National Cohort. AMIA (2021)
Nicole A. Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Dazhi Jiao, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall
Reclassification of Infectious Disease in the Mondo Disease Ontology. ICBO (2021)
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
The Human Phenotype Ontology in 2021. Nucleic Acids Res. 49 (Database-Issue) (2021)
Marco Notaro, Marco Frasca, Alessandro Petrini, Jessica Gliozzo, Elena Casiraghi, Peter N. Robinson, Giorgio Valentini
HEMDAG: a family of modular and scalable hierarchical ensemble methods to improve Gene Ontology term prediction. Bioinform. 37 (23) (2021)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J. Callahan, Marcin P. Joachimiak, Christopher J. Mungall, Peter N. Robinson, Justin T. Reese, Giorgio Valentini
GraPE: fast and scalable Graph Processing and Embedding. CoRR (2021)
Alice Scarabelli, Massimo Zilocchi, Elena Casiraghi, Pierangelo Fasani, Guido Giovanni Plensich, Alessandro Andrea Esposito, Elvira Stellato, Alessandro Petrini, Justin Reese, Peter N. Robinson, Giorgio Valentini, Gianpaolo Carrafiello
Abdominal Computed Tomography Imaging Findings in Hospitalized COVID-19 Patients: A Year-Long Experience and Associations Revealed by Explainable Artificial Intelligence. J. Imaging 7 (12) (2021)
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 Amor, Andrew T. Girvin, Amin Manna, Nabeel Qureshi, Michael G. Kurilla, Sam G. Michael, Lili M. Portilla, Joni L. Rutter, Christopher P. Austin, Ken R. Gersing
The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment. J. Am. Medical Informatics Assoc. 28 (3) (2021)
Giorgio Valentini, Elena Casiraghi, Luca Cappelletti, Vida Ravanmehr, Tommaso Fontana, Justin T. Reese, Peter N. Robinson
Het-node2vec: second order random walk sampling for heterogeneous multigraphs embedding. CoRR (2021)
Justin T. Reese, Deepak R. Unni, Tiffany J. Callahan, Luca Cappelletti, Vida Ravanmehr, Seth Carbon, Kent A. Shefchek, Benjamin M. Good, James P. Balhoff, Tommaso Fontana, Hannah Blau, Nicolas Matentzoglu, Nomi L. Harris, Monica C. Munoz-Torres, Melissa A. Haendel, Peter N. Robinson, Marcin P. Joachimiak, Christopher J. Mungall
KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response. Patterns 2 (1) (2021)
Ling Luo, Shankai Yan, Po-Ting Lai, Daniel Veltri, Andrew J. Oler, Sandhya Xirasagar, Rajarshi Ghosh, Morgan Similuk, Peter N. Robinson, Zhiyong Lu
PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology. Bioinform. 37 (13) (2021)
Elena Casiraghi, Dario Malchiodi, Gabriella Trucco, Marco Frasca, Luca Cappelletti, Tommaso Fontana, Alessandro Andrea Esposito, Emanuele Avola, Alessandro Jachetti, Justin T. Reese, Alessandro Rizzi, Peter N. Robinson, Giorgio Valentini
Explainable Machine Learning for Early Assessment of COVID-19 Risk Prediction in Emergency Departments. IEEE Access 8 (2020)
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
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic Acids Res. 48 (Database-Issue) (2020)
Nicole A. Vasilevsky, Shahim Essaid, Nicolas Matentzoglu, Nomi L. Harris, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall
Mondo Disease Ontology: Harmonizing Disease Concepts Across the World (short paper). ICBO/ODLS (2020)
Ling Luo, Shankai Yan, Po-Ting Lai, Daniel Veltri, Andrew J. Oler, Sandhya Xirasagar, Rajarshi Ghosh, Morgan Similuk, Peter N. Robinson, Zhiyong Lu
PhenoTagger: A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology. CoRR (2020)
Jean-Philippe F. Gourdine, Matthew H. Brush, Nicole A. Vasilevsky, Kent A. Shefchek, Sebastian Köhler, Nicolas Matentzoglu, Monica C. Munoz-Torres, Julie A. McMurry, Xingmin Aaron Zhang, Peter N. Robinson, Melissa A. Haendel
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. Database J. Biol. Databases Curation 2019 (2019)
Xingmin Aaron Zhang, Amy Yates, Nicole A. Vasilevsky, Jean-Philippe F. Gourdine, Tiffany J. Callahan, Leigh C. Carmody, Daniel Danis, Marcin P. Joachimiak, Vida Ravanmehr, Emily R. Pfaff, James Champion, Kimberly Robasky, Hao Xu, Karamarie Fecho, Nephi A. Walton, Richard L. Zhu, Justin Ramsdill, Christopher J. Mungall, Sebastian Köhler, Melissa A. Haendel, Clement J. McDonald, Daniel J. Vreeman, David B. Peden, Tellen D. Bennett, James A. Feinstein, Blake Martin, Adrianne L. Stefanski, Lawrence E. Hunter, Christopher G. Chute, Peter N. Robinson
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery. npj Digit. Medicine 2 (2019)
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
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 47 (Database-Issue) (2019)
Leigh C. Carmody, Xingmin Aaron Zhang, Nicole A. Vasilevsky, Christopher J. Mungall, Nicolas Matentzoglu, Peter N. Robinson
Medical Action Ontology (MAxO). ICBO (2019)
Marco Notaro, Max Schubach, Peter N. Robinson, Giorgio Valentini
Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods. BMC Bioinform. 18 (1) (2017)
Marco Notaro, Max Schubach, Marco Frasca, Marco Mesiti, Peter N. Robinson, Giorgio Valentini
Ensembling Descendant Term Classifiers to Improve Gene - Abnormal Phenotype Predictions. CIBB (2017)
Verena Heinrich, Tom Kamphans, Stefan Mundlos, Peter N. Robinson, Peter M. Krawitz
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinform. 33 (1) (2017)
Nicole A. Vasilevsky, James P. Balhoff, Christopher J. Mungall, David Osumi-Sutherland, Sebastian Köhler, Susan M. Bello, Cynthia L. Smith, Peter N. Robinson, Melissa A. Haendel
Aligning the Human Phenotype and Mammalian Phenotype Ontology using Dead Simple Ontology Design Patterns. ICBO (2017)
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
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic Acids Res. 45 (Database-Issue) (2017)
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
The Human Phenotype Ontology in 2017. Nucleic Acids Res. 45 (Database-Issue) (2017)
Tobias Penzkofer, Marten Jäger, Marek Figlerowicz, Richard Badge, Stefan Mundlos, Peter N. Robinson, Tomasz Zemojtel
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes. Nucleic Acids Res. 45 (Database-Issue) (2017)
Anika Oellrich, Nigel Collier, Tudor Groza, Dietrich Rebholz-Schuhmann, Nigam Shah, Olivier Bodenreider, Mary Regina Boland, Ivo I. Georgiev, Hongfang Liu, Kevin M. Livingston, Augustin Luna, Ann-Marie Mallon, Prashanti Manda, Peter N. Robinson, Gabriella Rustici, Michelle Simon, Liqin Wang, Rainer Winnenburg, Michel Dumontier
The digital revolution in phenotyping. Briefings Bioinform. 17 (5) (2016)
Nicole A. Vasilevsky, Mark Engelstad, Erin Foster, Chris Mungall, Peter N. Robinson, Sebastian Köhler, Melissa A. Haendel
Enhancing the Human Phenotype Ontology for Use by the Layperson. ICBO/BioCreative (2016)
Tudor Groza, Tania Tudorache, Peter N. Robinson, Andreas Zankl
Capturing domain knowledge from multiple sources: the rare bone disorders use case. J. Biomed. Semant. 6 (2015)
Peter N. Robinson, Marco Frasca, Sebastian Köhler, Marco Notaro, Matteo Re, Giorgio Valentini
A Hierarchical Ensemble Method for DAG-Structured Taxonomies. MCS (2015)
Léon Kuchenbecker, Mikalai Nienen, Jochen Hecht, Avidan U. Neumann, Nina Babel, Knut Reinert, Peter N. Robinson
IMSEQ - a fast and error aware approach to immunogenetic sequence analysis. Bioinform. 31 (18) (2015)
Tudor Groza, Sebastian Köhler, Sandra C. Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M. Couto, Gareth Baynam, Andreas Zankl, Peter N. Robinson
Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora. Database J. Biol. Databases Curation 2015 (2015)
Nigel Collier, Tudor Groza, Damian Smedley, Peter N. Robinson, Anika Oellrich, Dietrich Rebholz-Schuhmann
PhenoMiner: from text to a database of phenotypes associated with OMIM diseases. Database J. Biol. Databases Curation 2015 (2015)
Na Zhu, Verena Heinrich, Thorsten Dickhaus, Jochen Hecht, Peter N. Robinson, Stefan Mundlos, Tom Kamphans, Peter M. Krawitz
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls. Bioinform. 31 (22) (2015)
Giorgio Valentini, Sebastian Köhler, Matteo Ré, Marco Notaro, Peter N. Robinson
Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology. IWBBIO (1) (2015)
Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, Joanna S. Amberger, Carol A. Bocchini, Ada Hamosh, Julian Veldboer, Tomasz Zemojtel, Peter N. Robinson
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases. Bioinform. 30 (22) (2014)
Aaron J. Masino, Elizabeth T. Dechene, Matthew C. Dulik, Alisha Wilkens, Nancy B. Spinner, Ian D. Krantz, Jeffrey W. Pennington, Peter N. Robinson, Peter S. White
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinform. 15 (2014)
Anika Oellrich, Sebastian Köhler, Nicole L. Washington, Chris Mungall, Suzanna Lewis, Melissa A. Haendel, Peter N. Robinson, Damian Smedley
The influence of disease categories on gene candidate predictions from model organism phenotypes. J. Biomed. Semant. 5 (S-1) (2014)
Sebastian Köhler, Sandra C. Doelken, Christopher J. Mungall, Sebastian Bauer, Helen V. Firth, Isabelle Bailleul-Forestier, Graeme C. M. Black, Danielle L. Brown, Michael Brudno, Jennifer Campbell, David R. FitzPatrick, Janan T. Eppig, Andrew P. Jackson, Kathleen Freson, Marta Gîrdea, Ingo Helbig, Jane A. Hurst, Johanna Jähn, Laird G. Jackson, Anne M. Kelly, David H. Ledbetter, Sahar Mansour, Christa L. Martin, Celia Moss, Andrew D. Mumford, Willem H. Ouwehand, Soo-Mi Park, Erin Rooney Riggs, Richard H. Scott, Sanjay Sisodiya, Steven Van Vooren, Ronald J. Wapner, Andrew O. M. Wilkie, Caroline F. Wright, Anneke T. Vulto-van Silfhout, Nicole de Leeuw, Bert B. A. de Vries, Nicole L. Washington, Cynthia L. Smith, Monte Westerfield, Paul N. Schofield, Barbara J. Ruef, Georgios V. Gkoutos, Melissa A. Haendel, Damian Smedley, Suzanna E. Lewis, Peter N. Robinson
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 42 (Database-Issue) (2014)
Damian Smedley, Anika Oellrich, Sebastian Köhler, Barbara J. Ruef, Monte Westerfield, Peter N. Robinson, Suzanna Lewis, Christopher J. Mungall
PhenoDigm: analyzing curated annotations to associate animal models with human diseases. Database J. Biol. Databases Curation 2013 (2013)
Julien Grosjean, Tayeb Merabti, Lina Fatima Soualmia, Catherine Letord, Jean Charlet, Peter N. Robinson, Stéfan Jacques Darmoni
Integrating the Human Phenotype Ontology into HeTOP Terminology-Ontology Server. MedInfo (2013)
Sebastian Bauer, Sebastian Köhler, Marcel H. Schulz, Peter N. Robinson
Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinform. 28 (19) (2012)
Maria Taboada, Diego Martínez Hernández, Belén Pilo, Adriano Jiménez-Escrig, Peter N. Robinson, María Jesús Sobrido
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis. BMC Medical Informatics Decis. Mak. 12 (2012)
Sebastian Bauer, Peter N. Robinson, Julien Gagneur
Model-based gene set analysis for Bioconductor. Bioinform. 27 (13) (2011)
Sebastian Köhler, Sebastian Bauer, Chris Mungall, Gabriele Carletti, Cynthia L. Smith, Paul N. Schofield, Georgios V. Gkoutos, Peter N. Robinson
Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinform. 12 (2011)
Christian Rödelsperger, Peter M. Krawitz, Sebastian Bauer, Jochen Hecht, Abigail W. Bigham, Michael Bamshad, Birgit Jonske de Condor, Michal R. Schweiger, Peter N. Robinson
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinform. 27 (6) (2011)
Marcel H. Schulz, Sebastian Köhler, Sebastian Bauer, Peter N. Robinson
Exact score distribution computation for ontological similarity searches. BMC Bioinform. 12 (2011)
Peter M. Krawitz, Christian Rödelsperger, Marten Jäger, Luke Jostins, Sebastian Bauer, Peter N. Robinson
Microindel detection in short-read sequence data. Bioinform. 26 (6) (2010)
Marcel H. Schulz, Sebastian Köhler, Sebastian Bauer, Martin Vingron, Peter N. Robinson
Exact Score Distribution Computation for Similarity Searches in Ontologies. WABI (2009)
Sebastian Bauer, Steffen Grossmann, Martin Vingron, Peter N. Robinson
Ontologizer 2.0 - a multifunctional tool for GO term enrichment analysis and data exploration. Bioinform. 24 (14) (2008)
Marcel H. Schulz, Sebastian Bauer, Peter N. Robinson
The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences. Int. J. Bioinform. Res. Appl. 4 (1) (2008)
Steffen Grossmann, Sebastian Bauer, Peter N. Robinson, Martin Vingron
Improved detection of overrepresentation of Gene-Ontology annotations with parent-child analysis. Bioinform. 23 (22) (2007)
Christoph Gille, Peter N. Robinson
HotSwap for bioinformatics: A STRAP tutorial. BMC Bioinform. 7 (2006)
Bradley J. Beattie, Peter N. Robinson
Binary State Pattern Clustering: A Digital Paradigm for Class and Biomarker Discovery in Gene Microarray Studies of Cancer. J. Comput. Biol. 13 (5) (2006)
Steffen Grossmann, Sebastian Bauer, Peter N. Robinson, Martin Vingron
An Improved Statistic for Detecting Over-Represented Gene Ontology Annotations in Gene Sets. RECOMB (2006)
Peter N. Robinson, Andreas Wollstein, Ulrike Böhme, Bradley J. Beattie
Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology Bioinform. 20 (6) (2004)