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Studies in Health Technology and Informatics
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August 23, 2024
How Interoperability Can Enable Artificial Intelligence in Clinical Applications
Filip Rehburg, Adam Graefe, Miriam Hübner, et al.
Studies in Health Technology and Informatics
|
August 23, 2024
Review of Key Elements in Developing a Common Data Model for Rare Diseases: Identifying Common Success Factors
Adam S L Graefe, Filip Rehburg, Miriam Hübner, et al.
Scientific Data
|
February 8, 2025
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
Adam S L Graefe, Miriam R Hübner, Filip Rehburg, et al.
Scientific Reports
|
April 24, 2026
Transferability of a US claims-based machine learning model for ATTRwt-CM identification: a retrospective evaluation in a German setting
Harisa Muratovic-Colic, Miriam R Hübner, Jan-Filip Rehburg, et al.
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 interoperability
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
NPJ Genomic Medicine
|
November 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, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Human Genetics
|
December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
HGG Advances
|
October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
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Studies in Health Technology and Informatics
|
August 23, 2024
How Interoperability Can Enable Artificial Intelligence in Clinical Applications
Filip Rehburg, Adam Graefe, Miriam Hübner, et al.
Studies in Health Technology and Informatics
|
August 23, 2024
Review of Key Elements in Developing a Common Data Model for Rare Diseases: Identifying Common Success Factors
Adam S L Graefe, Filip Rehburg, Miriam Hübner, et al.
Scientific Data
|
February 8, 2025
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
Adam S L Graefe, Miriam R Hübner, Filip Rehburg, et al.
Scientific Reports
|
April 24, 2026
Transferability of a US claims-based machine learning model for ATTRwt-CM identification: a retrospective evaluation in a German setting
Harisa Muratovic-Colic, Miriam R Hübner, Jan-Filip Rehburg, et al.
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 interoperability
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
NPJ Genomic Medicine
|
November 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, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Human Genetics
|
December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
HGG Advances
|
October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
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of 1