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Adam Sl Graefe

8PUBLICATIONS

94CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Recommender systemsEpigenetics (incl. genome methylation and epigenomics)Language documentation and descriptionHealth informatics and information systems

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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

Frequent Collaborators

10 joint publications

Peter N Robinson

7 joint publications

Melissa Haendel

7 joint publications

Christopher J Mungall

6 joint publications

Daniel Danis

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