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Daniel Danis

Showing results (31-40 of 44) with videos related to

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NPJ Genomic Medicine|November 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and PhenopacketsAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, 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 interoperabilityAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 CasesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine|October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 casesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
NPJ Digital Medicine|May 24, 2019
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discoveryXingmin Aaron Zhang, Amy Yates, Nicole Vasilevsky, et al.
Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
A Phenotypic Paradigm for Cerebral Palsy GeneticsAdam S Arterbery, Michael A Gargano, Anita M Bagley, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
NPJ Genomic Medicine|November 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and PhenopacketsAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, 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 interoperabilityAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 CasesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine|October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 casesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
NPJ Digital Medicine|May 24, 2019
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discoveryXingmin Aaron Zhang, Amy Yates, Nicole Vasilevsky, et al.
Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
A Phenotypic Paradigm for Cerebral Palsy GeneticsAdam S Arterbery, Michael A Gargano, Anita M Bagley, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Pageof 5