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Peter N. Robinson

agency for science technology & research (a*star)

90H-index
796Paper Count
3.5WCitation Count
Published Papers 236
Publication Date
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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
errEuropean Journal of Human Genetics
IF4.6
err2026-02-24
err0
errOAAI
errJustin T. Reese; Leonardo Chimirri; Yasemin Bridges; Daniel Danis; J. Harry Caufield; Michael A. Gargano; Carlo Kroll; Andrew Schmeder; Fengchen Liu; Kyran Wissink; Julie A. McMurry; Adam S. L. Graefe; Enock Niyonkuru; Daniel R. Korn; Elena Casiraghi; Giorgio Valentini; Julius O. B. Jacobsen; Melissa Haendel; Damian Smedley; Christopher J. Mungall; Peter N. Robinson
errShare
errSave
Modular Deep Neural Networks with Residual Connections for Predicting the Pathogenicity of Genetic Variants in Non Coding Genomic Regions
errADVANCES IN COMPUTATIONAL INTELLIGENCE, IWANN 2025, PT I
IF0
err2026-01-01
err0
PREAI
errStacchietti, Federico; Nicolini, Marco; Chimirri, Leonardo; Robinson, Peter N.; Casiraghi, Elena; Valentini, Giorgio
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errSave
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?
errHuman Genetics and Genomics Advances
IF3.6
err2025-12-01
err2
errOAAI
errGroza, Tudor; Marcello, Allison J.; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N.; Graessner, Holm; Chong, Jessica X.; Baynam, Gareth; Jamuar, Saumya Shekhar
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errSave
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
errPRENATAL DIAGNOSIS
IF2.7
err2025-12-01
err0
errOAAI
errGulrajani, Natalie B.; Boscardin, John; Lianoglou, Billie R.; Tick, Katie; Santoli, Carmen M. A.; Miller, Kristen A.; Jelin, Angie C.; Dugoff, Lorraine; Giardine, Rose; Feist, Cori; Pilliod, Rachel; Dukhovny, Stephanie; Gilmore, Kelly; Vora, Neeta L.; Murphy, Aisling; Robinson, Peter N.; Norton, Mary E.; Sparks, Teresa N.
errShare
errSave
Information content as a health system screening tool for rare diseases
errnpj Digital Medicine
IF15.1
err2025-11-25
err0
errOAAI
errTudor Groza; Peter N. Robinson; Weng Khong Lim; Kaavya Narasimhalu; Jenny Hsieh; Khung Keong Yeo; Goh Bee Keow; Terrence Thomas; Tien Yin Wong; Neerja Karnani; Gareth Baynam; Saumya Shekhar Jamuar
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errSave
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
errnpj Genomic Medicine
IF4.8
err2025-11-18
err0
errOAAI
errAdam S. L. Graefe; Filip Rehburg; Samer Alkarkoukly; Daniel Danis; Ana Grönke; Miriam R. Hübner; Alexander Bartschke; Thomas Debertshäuser; Sophie A. I. Klopfenstein; Julian Saß; Julia Fleck; Mirko Rehberg; Jana Zschüntzsch; Elisabeth F. Nyoungui; Tatiana Kalashnikova; Luis Murguía-Favela; Beata Derfalvi; Nicola A. M. Wright; Shahida Moosa; Soichi Ogishima; Oliver Semler; Susanna Wiegand; Peter Kühnen; Christopher J. Mungall; Melissa A. Haendel; Peter N. Robinson; Sylvia Thun; Oya Beyan
errShare
errSave
Development of self-phenotyping tools to empower patients and improve diagnostics
erreBioMedicine
IF10.8
err2025-10-30
err0
errOAAI
errKent Shefchek; Sonja I. Ziniel; Julie A. McMurry; Catherine A. Brownstein; John S. Brownstein; Erin Rooney Riggs; Matthew Might; Damian Smedley; Amy Clugston; Alan H. Beggs; Heather Paterson; Peter N. Robinson; Nicole A. Vasilevsky; Ingrid A. Holm; Melissa A. Haendel
errShare
errSave
A Rare-in-Common Paradigm for Precision Genomic Medicine
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2025-10-23
err0
PREAI
errRobinson, Peter N.
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errSave
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
erreBioMedicine
IF10.8
err2025-10-14
err0
errOAAI
errLeonardo Chimirri; J. Harry Caufield; Yasemin Bridges; Nicolas Matentzoglu; Michael Gargano; Mario Cazalla; Shihan Chen; Daniel Danis; Alexander J.M. Dingemans; Klara Gehle; Petra Gehle; Adam S.L. Graefe; Weihong Gu; Markus S. Ladewig; Pablo Lapunzina; Julián Nevado; Enock Niyonkuru; Soichi Ogishima; Dominik Seelow; Jair A. Tenorio Castaño; Marek Turnovec; Bert B.A. de Vries; Kai Wang; Kyran Wissink; Zafer Yüksel; Gabriele Zucca; Melissa A. Haendel; Christopher J. Mungall; Justin Reese; Peter N. Robinson
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errSave
Oncopacket: integration of cancer research data using GA4GH phenopackets
errBIOINFORMATICS
IF5.4
err2025-10-01
err0
errOAAI
errSierk, Michael; Danis, Daniel; Patil, Sujay; Kishor, Nobal; Mondal, Rajdeep; Jha, Abhishek; Chen, Qingrong; Yan, Chunhua; Munoz-Torres, Monica; Meerzaman, Daoud; Robinson, Peter N.; Reese, Justin T.
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errSave
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy
errAMERICAN JOURNAL OF MEDICAL GENETICS PART A
IF1.7
err2025-09-01
err0
errOAAI
errOrdaz, Thania; Sundaramurthi, Jagadish Chandrabose; Arterbery, Adam S.; Bagley, Anita M.; Gargano, Michael A.; Bauer, Jeremy P.; Danis, Daniel; Giampietro, Philip; Raney, Ellen; Rekerle, Lauren; Shingle, Mallory; Davids, Jon R.; Robinson, Peter N.
errShare
errSave
Integrating Knowledge: The Power of Ontologies in Psychiatric Research and Clinical Informatics
errBiological Psychiatry
IF9
err2025-05-23
err0
PREAI
errMelvin G. McInnis; Ben Coleman; Eric Hurwitz; Peter N. Robinson; Andrew E. Williams; Melissa A. Haendel; Julie A. McMurry
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errSave
Replacing non-biomedical concepts improves embedding of biomedical concepts
errPLOS ONE
IF2.6
err2025-05-05
err0
errOAAI
errNiyonkuru, Enock; Gomez, Mauricio Soto; Casarighi, Elena; Antogiovanni, Stephan; Blau, Hannah; Reese, Justin T.; Valentini, Giorgio; Robinson, Peter N.
errShare
errSave
The Unified Phenotype Ontology : a framework for cross-species integrative phenomics
errGENETICS
IF5.1
err2025-03-17
err0
errOAAI
errMatentzoglu, Nicolas; Bello, Susan M.; Stefancsik, Ray; Alghamdi, Sarah M.; Anagnostopoulos, Anna, V; Balhoff, James P.; Balk, Meghan A.; Bradford, Yvonne M.; Bridges, Yasemin; Callahan, Tiffany J.; Caufield, Harry; Cuzick, Alayne; Carmody, Leigh C.; Caron, Anita R.; de Souza, Vinicius; Engel, Stacia R.; Fey, Petra; Fisher, Malcolm; Gehrke, Sarah; Grove, Christian; Hansen, Peter; Harris, Nomi L.; Harris, Midori A.; Harris, Laura; Ibrahim, Arwa; Jacobsen, Julius O. B.; Koehler, Sebastian; Mcmurry, Julie A.; Munoz-Fuentes, Violeta; Munoz-Torres, Monica C.; Parkinson, Helen; Pendlington, Zoe M.; Pilgrim, Clare; Robb, Sofia M. C.; Robinson, Peter N.; Seager, James; Segerdell, Erik; Smedley, Damian; Sollis, Elliot; Toro, Sabrina; Vasilevsky, Nicole; Wood, Valerie; Haendel, Melissa A.; Mungall, Christopher J.; Mclaughlin, James A.; Osumi-Sutherland, David
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errSave
A Systematic Approach to Prioritise Diagnostically Useful Findings for Inclusion in Electronic Health Records as Discrete Data to Improve Clinical Artificial Intelligence Tools and Genomic Research
errCLINICAL ONCOLOGY
IF3
err2025-03-01
err0
errOAAI
errGuillod, P.; Savvas, A.; Robinson, P. N.; Nai, D.; Naresh, K. N.; Ott, G.; Schuh, A.; Sewell, W. A.; Anderson, M.; Matentzoglu, N.; Durgavarjhula, D.; Xu, M. L.; Druzdzel, M. J.; Astle, J. M.
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errSave
Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis
errBEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
IF4.1
err2025-02-01
err0
errOAAI
errShear, Matthew A.; Robinson, Peter N.; Sparks, Teresa N.
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errSave
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2025-01-01
err4
errOAAI
errDanis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; Cacheiro, Pilar; Carmody, Leigh C.; Chimirri, Leonardo; Chong, Jessica X.; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J.; Graefe, Adam S. L.; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S.; Marcello, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara C. S.; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F.; Zocche, David; Haendel, Melissa A.; Robinson, Peter N.
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errSave
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization
errGENETICS IN MEDICINE
IF6.2
err2025-01-01
err0
PREAI
errBeckwith, Martha A.; Danis, Daniel; Bridges, Yasemin; Jacobsen, Julius O. B.; Smedley, Damian; Robinson, Peter N.
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errSave
IsopretGO-analysing and visualizing the functional consequences of differential splicing
errgenomics proteomics bioinformatics
IF2.8
err2024-12-05
err0
errOAAI
errKarlebach, Guy; Hansen, Peter; Koehler, Kristin; Robinson, Peter N.
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errSave
Using paired-end read orientations to assess technical biases in capture Hi-C
errgenomics proteomics bioinformatics
IF2.8
err2024-12-04
err0
errOAAI
errHansen, Peter; Blau, Hannah; Hecht, Jochen; Karlebach, Guy; Krannich, Alexander; Steinhaus, Robin; Truss, Matthias; Robinson, Peter N.
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errSave

Research Directions

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Co-authors
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