Publications by authors named "Robinson Peter"

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An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, Anita M Bagley, Michael A Gargano, Peter N Robinson

Am J Med Genet A· February 2026

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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S L Graefe, Viktor Bily, Peter Hansen, Peter N Robinson

Am J Hum Genet· January 2026

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Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Natalie B Gulrajani, John Boscardin, Billie R Lianoglou, Katie Tick, Carmen M A Santoli, Peter N Robinson

Prenat Diagn· December 2025

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A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?
Tudor Groza, Allison J Marcello, Tristan Carlisle, Weng Khong Lim, Melissa Haendel, Peter N Robinson

HGG Adv· December 2025

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Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, Nicolas Matentzoglu, Michael Gargano, Peter N Robinson

EBioMedicine· November 2025

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Development of self-phenotyping tools to empower patients and improve diagnostics.
Kent Shefchek, Sonja I Ziniel, Julie A McMurry, Catherine A Brownstein, John S Brownstein, Peter N Robinson

EBioMedicine· November 2025

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RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Danis, Ana Grönke, Peter Kühnen, Peter N Robinson

NPJ Genom Med· November 2025

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Information content as a health system screening tool for rare diseases.
Tudor Groza, Peter N Robinson, Weng Khong Lim, Kaavya Narasimhalu, Jenny Hsieh

NPJ Digit Med· November 2025

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Performance of Information Theory Derived: Semantic Similarity Algorithms for Differential Diagnosis and Clustering.
Ben Coleman, Daniel Danis, Justin Reese, Peter Robinson

bioRxiv· November 2025

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Physiological Responses and Pregnancy Rate of Black and White Holstein Heifers During Hot and Cold Seasons in a Desert Region.
Leonel Avendaño-Reyes, Emiliano Corrales-Navarro, Ulises Macías-Cruz, María de Los Ángeles López-Baca, José A Roque-Jiménez, Peter H Robinson

Animals (Basel)· November 2025

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Oncopacket: integration of cancer research data using GA4GH phenopackets.
Michael Sierk, Daniel Danis, Sujay Patil, Nobal Kishor, Rajdeep Mondal, Peter N Robinson

Bioinformatics· October 2025

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Mondo: Integrating Disease Terminology Across Communities.
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R Mullen, Peter N Robinson

Genetics· October 2025

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A Rare-in-Common Paradigm for Precision Genomic Medicine.
Peter N Robinson

N Engl J Med· October 2025

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Advancing Age and Risk From the Elevated Atherogenic Index: Triglyceride (TG) to High-Density Cholesterol (HDL-C) Ratio.
Manish Kumar, Shangshu Zhao, Peter Robinson, George A Kuchel, Richard H Fortinsky

J Am Geriatr Soc· September 2025

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The Filament Union Sign: Prevalence and Clinical Outcomes of Incomplete Bone Remodeling Following Percutaneous Hallux Valgus Surgery.
Thomas L Lewis, Clare Watt, Lily Fletcher, Evelyn Murphy, Min Jia Chua, Peter W Robinson, Peter Lam

Foot Ankle Int· September 2025

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Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting.
Jacques G Rivière, Lisa Bastarache, Luiza C Campos, Gerard Carot-Sans, Aaron Chin, Peter N Robinson

J Allergy Clin Immunol· September 2025

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Geometric constraints on the architecture of mammalian cortical connectomes.
Francis Normand, Mehul Gajwani, Trang Cao, Jace Cruddas, Arshiya Sangchooli, Peter A Robinson

bioRxiv· September 2025

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Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients.
Gerhard Kindle, Mickaël Alligon, Michael H Albert, Matthew Buckland, J David Edgar, Peter N Robinson

J Hum Immun· September 2025

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Determining the most effective shade system based on physiological and productive performance of Bos taurus bulls in a subtropical climate.
Leonel Avendaño-Reyes, Ulises Macías-Cruz, M Ángeles López-Baca, Vielka J Castañeda-Bustos, Arnulfo Vicente-Pérez, Peter Robinson

Int J Biometeorol· August 2025

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Integrating Knowledge: The Power of Ontologies in Psychiatric Research and Clinical Informatics.
Melvin G McInnis, Ben Coleman, Eric Hurwitz, Peter N Robinson, Andrew E Williams

Biol Psychiatry· August 2025

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The non-market value of reclaiming natural landscape and biodiversity: a Dutch case study.
Peter John Robinson, Marjolijn van Schendel, Jeroen C J H Aerts, Wouter Botzen, Pieter van Beukering

Reg Environ Change· June 2025

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A Comprehensive Molecular and Serological Investigation of Hepatitis A Virus Among Patients With Suspected Acute Hepatitis: A Brazilian Study.
Ketty Gleyzer de Oliveira, Mariana Pinheiro Alves Vasconcelos, Julia Teixeira Ton, Silvia Naomi de Oliveira Uehara, Roberta Sitnik, Peter James Robinson

J Med Virol· June 2025

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Leveraging generative AI to assist biocuration of medical actions for rare disease.
Enock Niyonkuru, J Harry Caufield, Leigh C Carmody, Michael A Gargano, Sabrina Toro, Peter N Robinson

Bioinform Adv· June 2025

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Ontology-based modeling, integration, and analysis of heterogeneous clinical, pathological, and molecular kidney data for precision medicine.
Yongqun Oliver He, Laura Barisoni, Avi Z Rosenberg, Peter Robinson, Alexander D Diehl

AMIA Annu Symp Proc· May 2025

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Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients.
Gerhard Kindle, Mickaël Alligon, Michael H Albert, Matthew Buckland, J David Edgar, Peter Robinson

medRxiv· April 2025

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