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Peter N. Robinson

Berlin Institute of Health at Charite-Universitatsmedizin Berlin
H指数:90
被引数:3.4万
浏览量:0

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Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing

蛋白质组学鉴定基因组测序后仍无法诊断的罕见病患者中的疾病相关变异

Science Translational Medicine
IF14.6
2026-09-090
PRE
Julia Carrasco-Zanini; Jorge Andrade; Maik Pietzner; Athanasios Kousathanas; Julius O. B. Jacobsen; Jenny Lord; Narasimha Telugu; Sebastian Diecke; Michael Mülleder; Dominik Bierbaum; Letizia Vestito; Peter N. Robinson; Markus Ralser; Diana Baralle; Nicholas J. Wareham; Greg Elgar; Michael Potente; Matthew A. Brown; Mark Caulfield; Damian Smedley; Claudia Langenberg
A phenotypic paradigm for cerebral palsy genetics

脑性瘫痪遗传学的表型范例

American Journal of Human Genetics
IF8.1
2026-09-010
OAAI
Arterbery, Adam S.; Gargano, Michael A.; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam S. L.; Arenas-Diaz, Ana L.; Bauer, Jeremy P.; Blau, Hannah; Carmody, Leigh; Carroll, Kristen I.; Davis, Janice; Giampietro, Philip F.; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius O. B.; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick S.; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Ramlow, Lukas; Raney, Ellen M.; Shingle, Mallory; Smedley, Damian; Smith, Peter A.; Soliman, Demiana A.; Westberry, David E.; Davids, Jon R.; Robinson, Peter N.
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。

European Journal of Human Genetics
IF4.6
2026-02-240
OAAI
Justin 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
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

ADVANCES IN COMPUTATIONAL INTELLIGENCE, IWANN 2025, PT I
IF0
2026-01-010
PRE
Stacchietti, Federico; Nicolini, Marco; Chimirri, Leonardo; Robinson, Peter N.; Casiraghi, Elena; Valentini, Giorgio
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？

Human Genetics and Genomics Advances
IF3.6
2025-12-012
OAAI
Groza, 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
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

RASopathies在伴有异常胎儿液体聚集的妊娠中的演变特征

PRENATAL DIAGNOSIS
IF2.7
2025-12-010
OAAI
Gulrajani, 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.
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

npj Digital Medicine
IF15.1
2025-11-250
OAAI
Tudor 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
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets

RareLink：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

npj Genomic Medicine
IF4.8
2025-11-180
OAAI
Adam 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
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

eBioMedicine
IF10.8
2025-10-300
OAAI
Kent 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
A Rare-in-Common Paradigm for Precision Genomic Medicine
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2025-10-230
PRE
Robinson, Peter N.
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

eBioMedicine
IF10.8
2025-10-140
OAAI
Leonardo 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
Oncopacket: integration of cancer research data using GA4GH phenopackets

Oncopacket：利用GA4GH phenopackets整合癌症研究数据

BIOINFORMATICS
IF5.4
2025-10-010
OAAI
Sierk, 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.
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

ITPR1 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。

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
IF1.7
2025-09-010
OAAI
Ordaz, 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.
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

Biological Psychiatry
IF9
2025-05-230
PRE
Melvin G. McInnis; Ben Coleman; Eric Hurwitz; Peter N. Robinson; Andrew E. Williams; Melissa A. Haendel; Julie A. McMurry
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

PLOS ONE
IF2.6
2025-05-050
OA
Niyonkuru, Enock; Gomez, Mauricio Soto; Casarighi, Elena; Antogiovanni, Stephan; Blau, Hannah; Reese, Justin T.; Valentini, Giorgio; Robinson, Peter N.
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

GENETICS
IF5.1
2025-03-170
OAAI
Matentzoglu, 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
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

CLINICAL ONCOLOGY
IF3
2025-03-010
OAAI
Guillod, 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.
Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
IF4.1
2025-02-010
OAAI
Shear, Matthew A.; Robinson, Peter N.; Sparks, Teresa N.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-01-014
OAAI
Danis, 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.
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization
GENETICS IN MEDICINE
IF6.2
2025-01-010
PRE
Beckwith, Martha A.; Danis, Daniel; Bridges, Yasemin; Jacobsen, Julius O. B.; Smedley, Damian; Robinson, Peter N.

研究方向

暂未获取到该数据
M
Melissa Haendel
H 指数:75论文数:610被引数:2.4万
D
Damian Smedley
H 指数:61论文数:254被引数:1.8万
S
Stefan Mundlos
H 指数:109论文数:759被引数:4.8万
S
Sebastian Köhler
H 指数:45论文数:157被引数:1.3万
J
Julius O.B. Jacobsen
H 指数:31论文数:81被引数:7,125
P
Peter Krawitz
H 指数:49论文数:282被引数:1.1万
J
Justin Reese
H 指数:36论文数:172被引数:1.0万
J
Jochen Hecht
H 指数:48论文数:145被引数:1.0万
J
Julie A. McMurry
H 指数:44论文数:176被引数:1.0万
N
Nicole Vasilevsky
H 指数:34论文数:224被引数:7,827