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Papers matching “Phenopackets” 8

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RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
2025 npj Genomic Medicine article Health Professions Electronic Health Records Systems Open access

Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Daniš, Ana Grönke, Miriam R. Hübner, +22 more

4

citations
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability
2025 medRxiv preprint Health Professions Electronic Health Records Systems Open access

Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Daniš, Ana Grönke, Miriam R. Hübner, +22 more

1

citations
Mapping OHDSI OMOP Common Data Model and GA4GH Phenopackets for COVID-19 disease epidemics and analytics
2022 preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

Núria Queralt-Rosiñach, Pablo Alarcón Moreno, Tiffany J. Callahan, Giovanni Delussu, Charlotte Fraboulet, Leyla Jael Castro, +7 more

4

citations
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan, +41 more

14

citations
The GA4GH Phenopacket schema defines a computable representation of clinical data
2022 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske, +60 more

117

citations
monarch-initiative/monarch-app: v1.24.0
2026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

varun_divya, Kevin Schaper, Vincent Rubinetti, Sierra A. Taylor Moxon, Corey Cox, Patrick Golden, +11 more

0

citations
monarch-initiative/monarch-app: v1.29.0-rc6
2026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

varun_divya, Kevin Schaper, Vincent Rubinetti, Patrick Golden, Sierra Moxon, Corey Cox, +16 more

0

citations
monarch-initiative/monarch-app: v1.29.0
2026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

varun_divya, Kevin Schaper, Vincent Rubinetti, Patrick Golden, Sierra Moxon, Corey Cox, +16 more

0

citations

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