Author

Filip Rehburg

Berlin Institute of Health at Charité - Universitätsmedizin BerlinORCID 0009-0007-0457-5724Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 3 Research Focus:database / resource· 2 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Assay:electronic health records· 1

Frequent Co-Authors

Adam S.L. GraefeiD· 3 shared Chris MungalliD· 3 shared Daniel DanisiD· 3 shared Melissa Anne HaendeliD· 3 shared Peter N. RobinsoniD· 3 shared Sylvia ThuniD· 3 shared Adam KlocperkiD· 2 shared Andrés Caballero-OteyzaiD· 2 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Adam S.L. GraefeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedDec 23, 2025

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

Lauren Rekerle, Daniel Danis, Filip Rehburg…·Peter N. Robinson

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

DOI 10.1016/j.ajhg.2025.12.001

humanGWAS summary statistics

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Genetic & Genomic MedicinemedRxivPreprintMay 9, 2025

Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability

Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly…·Oya Beyan

RareLink enables interoperability between REDCap and global health standards by exporting data to Phenopackets and FHIR, improving rare disease research scalability and data reuse.

1 citation

humanelectronic health records

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Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedOct 10, 2024

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

Daniel Daniš, Michael J Bamshad, Yasemin Bridges…·Peter N. Robinson

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.

20 citationstop 3%

database / resourcebenchmarking

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