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Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperabilityAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
JMIR Medical Informatics|May 21, 2025
Toward a Domain-Overarching Metadata Schema for Making Health Research Studies FAIR (Findable, Accessible, Interoperable, and Reusable): Development of the NFDI4Health Metadata SchemaHaitham Abaza, Aliaksandra Shutsko, Sophie A I Klopfenstein, et al.
NPJ Genomic Medicine|November 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and PhenopacketsAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
JMIR Medical Informatics|June 4, 2025
Correction: Toward a Domain-Overarching Metadata Schema for Making Health Research Studies FAIR (Findable, Accessible, Interoperable, and Reusable): Development of the NFDI4Health Metadata SchemaHaitham Abaza, Aliaksandra Shutsko, Sophie A I Klopfenstein, et al.
Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Infection|July 11, 2023
Analysis of acute COVID-19 including chronic morbidity: protocol for the deep phenotyping National Pandemic Cohort Network in Germany (NAPKON-HAP)Fridolin Steinbeis, Charlotte Thibeault, Sarah Steinbrecher, et al.
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