Search Results - "Haendel MA"

Governing real-world health data as a public utility.

Authors: Haendel MA Ahern R Bailey KB et al.

Source: Science (New York, N.Y.) [Science] 2026 Mar 05; Vol. 391 (6789), pp. 993-996. Date of Electronic Publication: 2026 Mar 05.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

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

The missing link: electronic health record linkage across species offers opportunities for improving One Health.

Authors: Mullen KR Saklou N Kiehl A et al.

Source: JAMIA open [JAMIA Open] 2025 Nov 12; Vol. 8 (6), pp. ooaf151. Date of Electronic Publication: 2025 Nov 12 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press on behalf of the American Medical Informatics Association Country of Publication: United States NLM ID: 101730643 Publication Model: eCollection Cited Medium: Internet ISSN: 2574-2531 (Electronic) Linking ISSN: 25742531 NLM ISO Abbreviation: JAMIA Open Subsets: PubMed not MEDLINE

monarchr: an R package for querying biomedical knowledge graphs.

Authors: O'Neil ST Schilder BM Schaper K et al.

Source: Bioinformatics (Oxford, England) [Bioinformatics] 2025 Oct 02; Vol. 41 (10).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

Identifying People Living With or Those at Risk for HIV in a Nationally Sampled Electronic Health Record Repository Called the National Clinical Cohort Collaborative: Computational Phenotyping Study.

Authors: Hurwitz E Varley CD Anzolone AJ et al.

Corporate Authors: Hurwitz E Varley CD Anzolone AJ et al.

Source: JMIR medical informatics [JMIR Med Inform] 2025 Jul 11; Vol. 13, pp. e68143. Date of Electronic Publication: 2025 Jul 11.

Publication Type: Journal Article

Journal Info: Publisher: JMIR Publications Country of Publication: Canada NLM ID: 101645109 Publication Model: Electronic Cited Medium: Internet ISSN: 2291-9694 (Electronic) Linking ISSN: 22919694 NLM ISO Abbreviation: JMIR Med Inform Subsets: MEDLINE

The Cell Ontology in the age of single-cell omics.

Authors: Tan SZK Puig-Barbe A Goutte-Gattat D et al.

Source: Scientific data [Sci Data] 2026 Apr 24. Date of Electronic Publication: 2026 Apr 24.

Publication Type: Journal Article

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

Mondo: integrating disease terminology across communities.

Authors: Vasilevsky NA Toro S Matentzoglu N et al.

Source: Genetics [Genetics] 2026 Apr 04; Vol. 232 (4).

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

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Population differences in wearable device wear time: Rescuing data to address biases and advance health equity.

Authors: Hurwitz E Connelly E Sklerov M et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 06. Date of Electronic Publication: 2026 Mar 06.

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

Wavelet-Based Pattern ERG Biomarkers Outperform Temporal Amplitude Measures for Functional Stratification in Optic Nerve Disease.

Authors: Shwetar YJ Jeffrey BG Haendel MA

Source: Translational vision science & technology [Transl Vis Sci Technol] 2026 Mar 02; Vol. 15 (3), pp. 13.

Publication Type: Journal Article

Journal Info: Publisher: Association for Research in Vision and Ophthalmology Country of Publication: United States NLM ID: 101595919 Publication Model: Print Cited Medium: Internet ISSN: 2164-2591 (Electronic) Linking ISSN: 21642591 NLM ISO Abbreviation: Transl Vis Sci Technol Subsets: MEDLINE

A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations.

Authors: Connelly E Laraway B Mullen KR et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Feb 12. Date of Electronic Publication: 2026 Feb 12.

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 practical introduction to wavelet analysis in electroretinography.

Authors: Shwetar YJ Lalush DS Zhang AY et al.

Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2026 Feb; Vol. 152 (1), pp. 23-31. Date of Electronic Publication: 2025 Dec 15.

Publication Type: Journal Article; Review

Journal Info: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE

The Unified Phenotype Ontology : a framework for cross-species integrative phenomics.

Authors: Matentzoglu N Bello SM Stefancsik R et al.

Source: Genetics [Genetics] 2025 Mar 17; Vol. 229 (3).

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

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Efficient reinterpretation of rare disease cases using Exomiser.

Authors: Vestito L Jacobsen JOB Walker S et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2024 Dec 18; Vol. 9 (1), pp. 65. Date of Electronic Publication: 2024 Dec 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

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

Machine learning-optimized perinatal depression screening: Maximum impact, minimal burden.

Authors: Hurwitz E Shell C Chugh K et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Dec 21. Date of Electronic Publication: 2025 Dec 21.

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 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

Development of self-phenotyping tools to empower patients and improve diagnostics.

Authors: Shefchek K Ziniel SI McMurry JA et al.

Source: EBioMedicine [EBioMedicine] 2025 Nov; Vol. 121, pp. 105965. Date of Electronic Publication: 2025 Oct 30.

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

A Case Demonstration of the Open Health Natural Language Processing Toolkit From the National COVID-19 Cohort Collaborative and the Researching COVID to Enhance Recovery Programs for a Natural Language Processing System for COVID-19 or Postacute Sequelae of SARS CoV-2 Infection: Algorithm Development and Validation.

Authors: Wen A Wang L He H et al.

Corporate Authors: Wen A Wang L He H et al.

Source: JMIR medical informatics [JMIR Med Inform] 2024 Sep 09; Vol. 12, pp. e49997. Date of Electronic Publication: 2024 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: JMIR Publications Country of Publication: Canada NLM ID: 101645109 Publication Model: Electronic Cited Medium: Print ISSN: 2291-9694 (Print) Linking ISSN: 22919694 NLM ISO Abbreviation: JMIR Med Inform Subsets: PubMed not MEDLINE

Association of post-COVID phenotypic manifestations with new-onset psychiatric disease.

Authors: Coleman B Casiraghi E Callahan TJ et al.

Source: Translational psychiatry [Transl Psychiatry] 2024 Jun 08; Vol. 14 (1), pp. 246. Date of Electronic Publication: 2024 Jun 08.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE