Search Results - "Graefe ASL"

RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.

Authors: Graefe ASL Rehburg F Alkarkoukly S et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Nov 18; Vol. 10 (1), pp. 72. Date of Electronic Publication: 2025 Nov 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

Authors: Reese JT Chimirri L Bridges Y et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 498-504. Date of Electronic Publication: 2026 Feb 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine.

Authors: Haffer N Stellmach C Sass J et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jul 29; Vol. 10 (1), pp. 57. Date of Electronic Publication: 2025 Jul 29.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

LinkML: an open data modeling framework.

Authors: Moxon SAT Solbrig H Harris NL et al.

Corporate Authors: Moxon SAT Solbrig H Harris NL et al.

Source: GigaScience [Gigascience] 2026 Jan 21; Vol. 15.

Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 101596872 Publication Model: Print Cited Medium: Internet ISSN: 2047-217X (Electronic) Linking ISSN: 2047217X NLM ISO Abbreviation: Gigascience Subsets: MEDLINE

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Authors: Rekerle L Danis D Rehburg F et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jan 08; Vol. 113 (1), pp. 57-70. Date of Electronic Publication: 2025 Dec 23.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.

Authors: Graefe ASL Hübner MR Rehburg F et al.

Source: Scientific data [Sci Data] 2025 Feb 08; Vol. 12 (1), pp. 234. Date of Electronic Publication: 2025 Feb 08.

Publication Type: Journal Article; Dataset

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.

Authors: Chimirri L Caufield JH Bridges Y et al.

Source: EBioMedicine [EBioMedicine] 2025 Nov; Vol. 121, pp. 105957. Date of Electronic Publication: 2025 Oct 14.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Considerations on the basis of medical reasoning for the use in AI applications.

Authors: Koumpis A Graefe ASL

Source: Frontiers in medicine [Front Med (Lausanne)] 2024 Sep 18; Vol. 11, pp. 1451649. Date of Electronic Publication: 2024 Sep 18 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE

Review of Key Elements in Developing a Common Data Model for Rare Diseases: Identifying Common Success Factors.

Authors: Graefe ASL Rehburg F Hübner M et al.

Source: Studies in health technology and informatics [Stud Health Technol Inform] 2024 Aug 22; Vol. 316, pp. 1396-1400.

Publication Type: Review; Journal Article

Journal Info: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 9214582 Publication Model: Print Cited Medium: Internet ISSN: 1879-8365 (Electronic) Linking ISSN: 09269630 NLM ISO Abbreviation: Stud Health Technol Inform Subsets: MEDLINE

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

Authors: Graefe ASL Rehburg F Alkarkoukly S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 May 11. Date of Electronic Publication: 2025 May 11.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.

Authors: Chimirri L Caufield JH Bridges Y et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Feb 28. Date of Electronic Publication: 2025 Feb 28.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.

Authors: Danis D Bamshad MJ Bridges Y et al.

Source: HGG advances [HGG Adv] 2025 Jan 09; Vol. 6 (1), pp. 100371. Date of Electronic Publication: 2024 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

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

Authors: Danis D Bamshad MJ Bridges Y et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 29. Date of Electronic Publication: 2024 May 29.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE