Beata Derfalvi

5PUBLICATIONS
178CO-AUTHORS
Recommender systemsGenomics and transcriptomicsInfant and child healthAdolescent health
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Publications (5)

|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

|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.

Michael A Gargano, Nicolas Matentzoglu, Ben Coleman

|Feb 24, 2022
Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.

Nora Alrumayyan, Drew Slauenwhite, Sarah M McAlpine

|Jan 30, 2022
Joint involvement, disease activity and quality of life in pediatric Crohn's disease - a cross-sectional study.

Beata Derfalvi, Kriszta Katinka Boros, Doloresz Szabo

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Frequent Collaborators

3 joint publications

Melissa A Haendel

3 joint publications

Peter N Robinson

3 joint publications

Christopher J Mungall

3 joint publications

Daniel Danis