Adam Sl Graefe
8PUBLICATIONS
94CO-AUTHORS
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Publications (8)
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|Feb 06, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.Adam S Arterbery, Michael A Gargano, Anita Bagley
|Nov 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly
|May 19, 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
|Mar 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.Lauren Rekerle, Daniel Danis, Filip Rehburg
|Mar 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.Leonardo Chimirri, J Harry Caufield, Yasemin Bridges
|Feb 08, 2025
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.Adam S L Graefe, Miriam R Hübner, Filip Rehburg
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Frequent Collaborators
10 joint publications
Peter N Robinson
7 joint publications
Melissa Haendel
7 joint publications
Christopher J Mungall
6 joint publications
Daniel Danis
5 joint publications
Damian Smedley
5 joint publications
Julius Ob Jacobsen
5 joint publications
Sylvia Thun
4 joint publications
Justin T Reese
4 joint publications
Filip Rehburg
3 joint publications
Markus S Ladewig
