Mobile Apps for People With Rare Diseases: Review and Quality Assessment Using Mobile App Rating Scale

Journals

1. He D, Wang R, Xu Z, Wang J, Song P, Wang H, Su J. The use of artificial intelligence in the treatment of rare diseases: A scoping review. Intractable & Rare Diseases Research 2024;13(1):12 View
2. Eaton C, McWilliams E, Yablon D, Kesim I, Ge R, Mirus K, Sconiers T, Donkoh A, Lawrence M, George C, Morrison M, Muther E, Oates G, Sathe M, Sawicki G, Snell C, Riekert K. Cross-Cutting mHealth Behavior Change Techniques to Support Treatment Adherence and Self-Management of Complex Medical Conditions: Systematic Review. JMIR mHealth and uHealth 2024;12:e49024 View
3. Narang G, Chen Y, Wedel N, Wu M, Luo M, Atreja A. Development of a Digital Patient Assistant for the Management of Cyclic Vomiting Syndrome: Patient-Centric Design Study. JMIR Formative Research 2024;8:e52251 View
4. Eaton C, Vallejo N, McDonald X, Wu J, Rodríguez R, Muthusamy N, Mathioudakis N, Riekert K. User Engagement With mHealth Interventions to Promote Treatment Adherence and Self-Management in People With Chronic Health Conditions: Systematic Review. Journal of Medical Internet Research 2024;26:e50508 View
5. Bernard R, Seijas V, Davis M, Volkova A, Diviani N, Lüscher J, Sabariego C. Self-Management Support Apps for Spinal Cord Injury: Results of a Systematic Search in App Stores and Mobile App Rating Scale Evaluation. JMIR mHealth and uHealth 2024;12:e53677 View
6. Azadi H, Akbarzadeh-Totonchi M, Jahani Y, Gohari S, Khajouei R. Evaluation of mobile applications related to patients with Parkinson’s disease based on their essential features and capabilities. BMC Medical Informatics and Decision Making 2024;24(1) View
7. Tan L, Yu H, Zuo Y, Liu B, Zhu T, Deng X. The Effectiveness of a Mobile National Remote Emergency System for Malignant Hyperthermia in China: Retrospective Pre-Post Implementation Study. Journal of Medical Internet Research 2025;27:e71476 View
8. Nemes L, Hartmann H, Kostelac H, Roblek T. Patient Preference and Mobile Application Use in Hemophilia A: A Cross-Sectional Survey from Eastern Europe. Journal of Patient Experience 2025;12 View
9. Yoon J. Investigating the utility of large language models for image-based rare disease phenotyping. Journal of Genetic Medicine 2025;22(1):7 View
10. van Lonkhuizen P, Slutter L, Meijer E, van Duijn E, de Bot S, Vegt N, Chavannes N, Heemskerk A, Landwehrmeyer G, Mühlbäck A, Frank W, Steck F, Klempíř J, Konvalinková R, Bezuchová E, Dolečková K, Klempířová O, Roth J, Ulmanová O, Squitieri F, Maffi S, Giancaterino G, Di Giorgio C, D’Alessio B, Casella M, Hoblyn J, Thangaramanujam M, Burke T, O’Malley E, McKenna S, McKenna I, Thorpe J, Johnstone E, Spray I, Grzeda M, Moldovan R, Foley P, Kerr J. Usability and feasibility assessment of the Huntington Support App (HD-eHelp study): a mixed-methods multi-study report. BMC Digital Health 2025;3(1) View
11. Barrera J, Amayra I, Contreras D, Rodríguez A, Passi N, Ortega J, Martínez Ó. AppER: Design and Validation of a Mobile Application for Caregivers of Patients with Duchenne Muscular Dystrophy and Their Families in Spain and Latin America. Muscles 2025;4(4):43 View

Conference Proceedings

1. Guo Z, Wang Y, Liang A, Van Devanter W, Zhang P. 2023 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). HealthBridge: A Decentralized and Interoperable Healthcare App for Rare Disease Communities View
2. Vigh E, Weir E, Howard J, Roudaut A. Extended Abstracts of the CHI Conference on Human Factors in Computing Systems. Sevenfold Paths: HCI Journeys through Dystopian Sins and Utopian Virtues View
3. Dinet J, Vivian R, Nouchi R, Matsuzaki Y, Sakaki K. Proceedings of the European Conference on Cognitive Ergonomics 2024. Supporting Social Inclusion for Children with Hemophilia by Video Gaming View