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 .
Utilization of Electronic Medical Records and Biomedical Literature to Support the Diagnosis of Rare Diseases Using Data Fusion and Collaborative Filtering Approaches

Utilization of Electronic Medical Records and Biomedical Literature to Support the Diagnosis of Rare Diseases Using Data Fusion and Collaborative Filtering Approaches

Utilization of Electronic Medical Records and Biomedical Literature to Support the Diagnosis of Rare Diseases Using Data Fusion and Collaborative Filtering Approaches

Journals

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. Bernier A, Taylor I. Rare disease data stewardship in Canada. FACETS 2020;5(1):836 View
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. Ramos-Zaldívar H. Eidikology: proposition for a new terminology for the science of rare diseases. Postgraduate Medical Journal 2019;95(1125):406 View
  18. 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
  19. 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
  20. Zhou W, Chen Q, Wang Y, Guo A, Wu A, Liu X, Dai J, Meng S, Situ C, Liu Y, Xu K, Zhu W, Tian X. An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia. Journal of Internal Medicine 2025;297(1):93 View

Books/Policy Documents

  1. Hersh W. Information Retrieval: A Biomedical and Health Perspective. View
  2. Li J, Tian Y, Zhou T. Healthcare Information Systems. View