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Peter N. Robinson

agency for science technology & research (a*star)

90H指数
796论文数
3.5W被引数
收录论文 236
发表时间
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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools系统性的基准测试表明，大型语言模型尚未达到传统罕见病决策支持工具的诊断准确度。
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
err分享
err收藏
Modular Deep Neural Networks with Residual Connections for Predicting the Pathogenicity of Genetic Variants in Non Coding Genomic Regions模块化深度神经网络与残差连接用于预测非编码基因组区域中遗传变异的致病性
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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err收藏
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?大型语言模型对罕见病知识的系统性评估：大型语言模型对罕见病了解多少？
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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Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid CollectionsRASopathies在伴有异常胎儿液体聚集的妊娠中的演变特征
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.
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Information content as a health system screening tool for rare diseases信息含量作为罕见病健康系统的筛查工具
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
err分享
err收藏
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and PhenopacketsRareLink：一种可扩展的基于REDCap的框架，用于罕见病互操作性，将国际注册系统链接到FHIR和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
err分享
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Development of self-phenotyping tools to empower patients and improve diagnostics开发自表型工具以赋能患者并改善诊断
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
err分享
err收藏
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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Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases大型语言模型在罕见病诊断中的跨十种语言和4917例病例的持续性能
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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Oncopacket: integration of cancer research data using GA4GH phenopacketsOncopacket：利用GA4GH phenopackets整合癌症研究数据
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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An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral PalsyITPR1 变体在 IP3-ITPR1 结合口袋中，与手足徐动型脑瘫的临床表型相关。
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.
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Integrating Knowledge: The Power of Ontologies in Psychiatric Research and Clinical Informatics整合知识：本体论在精神病学研究和临床信息学中的力量
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
err分享
err收藏
Replacing non-biomedical concepts improves embedding of biomedical concepts替换非生物医学概念可改善生物医学概念的嵌入
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.
err分享
err收藏
The Unified Phenotype Ontology : a framework for cross-species integrative phenomics统一表型本体论: 跨物种整合表型组学的框架
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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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一种系统的方法，优先考虑诊断有用的发现，将其作为离散数据纳入电子健康记录，以改善临床人工智能工具和基因组研究
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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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.
err分享
err收藏
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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err收藏
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.
err分享
err收藏
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.
err分享
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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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研究方向

暂无研究方向
合作学者
合作期刊
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