Published on in Vol 6, No 4 (2018): Oct-Dec
Preprints (earlier versions) of this paper are
available at
https://preprints.jmir.org/preprint/11301, first published
.
Journals
- Alam M, Banwell C, Olsen A, Lokuge K. Patients’ and Doctors’ Perceptions of a Mobile Phone–Based Consultation Service for Maternal, Neonatal, and Infant Health Care in Bangladesh: A Mixed-Methods Study. JMIR mHealth and uHealth 2019;7(4):e11842 View
- Du B, Mao R, Kong N, Sun D. Distributed Data Fusion for On-Scene Signal Sensing With a Multi-UAV System. IEEE Transactions on Control of Network Systems 2020;7(3):1330 View
- Brasil S, Pascoal C, Francisco R, dos Reis Ferreira V, A. Videira P, Valadão G. Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?. Genes 2019;10(12):978 View
- Li X, Wang Y, Wang D, Yuan W, Peng D, Mei Q. Improving rare disease classification using imperfect knowledge graph. BMC Medical Informatics and Decision Making 2019;19(S5) View
- Shen F, Zhao Y, Wang L, Mojarad M, Wang Y, Liu S, Liu H. Rare disease knowledge enrichment through a data-driven approach. BMC Medical Informatics and Decision Making 2019;19(1) View
- Faviez C, Chen X, Garcelon N, Neuraz A, Knebelmann B, Salomon R, Lyonnet S, Saunier S, Burgun A. Diagnosis support systems for rare diseases: a scoping review. Orphanet Journal of Rare Diseases 2020;15(1) View
- Cohen A, Chamberlin S, Deloughery T, Nguyen M, Bedrick S, Meninger S, Ko J, Amin J, Wei A, Hersh W, Ramagopalan S. Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria. PLOS ONE 2020;15(7):e0235574 View
- Schaaf J, Sedlmayr M, Schaefer J, Storf H. Diagnosis of Rare Diseases: a scoping review of clinical decision support systems. Orphanet Journal of Rare Diseases 2020;15(1) View
- Li X, Chen C, Zheng P, Jiang Z, Wang L. A context-aware diversity-oriented knowledge recommendation approach for smart engineering solution design. Knowledge-Based Systems 2021;215:106739 View
- Bernier A, Taylor I. Rare disease data stewardship in Canada. FACETS 2020;5(1):836 View
- Schaaf J, Sedlmayr M, Sedlmayr B, Prokosch H, Storf H. Evaluation of a clinical decision support system for rare diseases: a qualitative study. BMC Medical Informatics and Decision Making 2021;21(1) View
- Hill J, Visweswaran S, Ning X, Schleyer T. Use, Impact, Weaknesses, and Advanced Features of Search Functions for Clinical Use in Electronic Health Records: A Scoping Review. Applied Clinical Informatics 2021;12(03):417 View
- Fecho K, Ahalt S, Knowles M, Krishnamurthy A, Leigh M, Morton K, Pfaff E, Wang M, Yi H. Leveraging Open Electronic Health Record Data and Environmental Exposures Data to Derive Insights Into Rare Pulmonary Disease. Frontiers in Artificial Intelligence 2022;5 View
- Alves V, Korn D, Pervitsky V, Thieme A, Capuzzi S, Baker N, Chirkova R, Ekins S, Muratov E, Hickey A, Tropsha A. Knowledge-based approaches to drug discovery for rare diseases. Drug Discovery Today 2022;27(2):490 View
- Hersh W, Cohen A, Nguyen M, Bensching K, Deloughery T. Clinical study applying machine learning to detect a rare disease: results and lessons learned. JAMIA Open 2022;5(2) View
- Parolo S, Tomasoni D, Bora P, Ramponi A, Kaddi C, Azer K, Domenici E, Neves-Zaph S, Lombardo R. Reconstruction of the Cytokine Signaling in Lysosomal Storage Diseases by Literature Mining and Network Analysis. Frontiers in Cell and Developmental Biology 2021;9 View
- Ramos-Zaldívar H. Eidikology: proposition for a new terminology for the science of rare diseases. Postgraduate Medical Journal 2019;95(1125):406 View
- Lin S, Nateqi J, Weingartner-Ortner R, Gruarin S, Marling H, Pilgram V, Lagler F, Aigner E, Martin A. An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease. Frontiers in Neurology 2023;14 View
- Masalskyi V, Čičiurėnas D, Dzedzickis A, Prentice U, Braziulis G, Bučinskas V. Synchronization of Separate Sensors’ Data Transferred through a Local Wi-Fi Network: A Use Case of Human-Gait Monitoring. Future Internet 2024;16(2):36 View
Books/Policy Documents
- Hersh W. Information Retrieval: A Biomedical and Health Perspective. View