Zeitschriftenbeiträge
2026
Schmidt M, Vengadeswaran A, Folz M, Bachir S, Heidenreich H, Kadioglu D, Storf H. FHIRJoin: A Prototypical Concept for Federated Queries Across Distributed FHIR Servers. Stud Health Technol Inform. 340, 52. – 58. doi:IOS Press Ebooks – FHIRJoin: A Prototypical Concept for Federated Queries Across Distributed FHIR Servers
Weber M, Thoenissen O, Terwey P, Zieschank A, Sader R, Schaaf J. Prediction of Postoperative Complications Following Mandibular Fractures Using Machine Learning. Stud Health Technol Inform. 336, 27 – 31. doi: IOS Press Ebooks – Prediction of Postoperative Complications Following Mandibular Fractures Using Machine Learning
Noll R, Englisch M, Hoffmann E, Bergmann N, Schaaf J. De-identification of free-text medical records using large language models. Stud Health Technol Inform. 336, doi: 809-813 IOS Press Ebooks – De-Identification of Free-Text Medical Records Using Large Language Models
Siabou LB, Vengadeswaran A,Takoulegha DA, Müller T, Kadioglu D, Storf H. Connecting terminology servers with a metadata repository. Stud Health Technol Inform. 336, 1272 – 1276. doi: IOS Press Ebooks – Connecting Terminology Servers with a Metadata Repository
Neff MC, Schulz MR, Storf H, Schaaf J. Evaluation of a user-oriented inter-physician exchange portal within a decision support system for primary care − a qualitative study. International Journal of Medical Informatics. 15. Juni 2026;213:106386. doi:10.1016/j.ijmedinf.2026.106386
Thoenissen P, Schaaf J, Zorn S, Sader R, Sughara K, Maal T. AI-Driven Surgical Decision Making in Oral and Maxillofacial Surgery: From Diagnostic Ambiguity to Personalized Therapy via Data Structuring, Predictive Modeling, and XR-Enhanced Execution. Innovative Surgical Sciences. doi: https://doi.org/10.1515/iss-2025-0051
Neff MC, Schaaf J, Ahmadi A, Zoch M, Schuetze D, Storf H. Experiences With Integrating Medical Terminologies Into User Interfaces for a Decision Support System for Primary Care: Conceptual and Development Study. JMIR Med Inform 2026;14:e74934 doi: 10.2196/74934 PMID: 41719551
Noll R, Ekelhart A, Martinez-Duarte D, Mayer R, Koch P, Langenberger B, Stoffers PC, Biller R, Goldschmidt A, Mohammadi S, Zoch M, Szilagyi B, Gan G, Dinh Khang Truong N, Röttger R, Rabinovitch G, Storf S, Schaaf J. SHARE: Toward Usable, Trustworthy, and Interoperable Synthetic Health Data for Rare Diseases. BMJ Health & Care Informatics. https://doi.org/10.1136/bmjhci-2025-101757
Reiter B.; Andreas S., Schumann L., Bender B., Schnorr A., Heidenreich A., Stephan C., Prunotto A., Laukhuf A., Wehrle J., Mueller M., Aubele, F., Hagedorn M., Albashiti F., Seybold U., Roider J., Stecher M., Maier D., Vehreschild J.: Clinical Epidemiology of Cancer in People Living With HIV in Germany: Retrospective, Observational, Multicenter Federated Claims Data Analysis. JMIR Public Health and Surveillance. https://doi.org/10.2196/81092
2025
Köhler, S.; Güthlin, C; Noll R; Voigt, A; Schaaf, J; Müller, A (2025). The use and significance of user-centered design in the development of digital applications – the example of the COMTRAC-HIV app. The Digitalization of Healthcare for Older Adults. Charité – Universitätsmedizin Berlin. doi: 10.14279/depositonce-23851
Vasseur J, Britz V, König J, Smaczny M, Burkhart M, Storf H, Wagner TOF, Berger A. Die Rolle krankheitsspezifischer Register im Bereich der seltenen Erkrankungen – Chancen, Nutzen und Stolpersteine. Innere Medizin (2025). https://doi.org/10.1007/s00108-025-02017-w
Schaaf J, Neff M, Scheidt J, Storf H, Co-creation Process of an App for People with Rare Diseases – A Citizen Science Approach. Orphanet J Rare Dis 20, 614 (2025).Co-creation process of an app for people with rare diseases – a citizen science approach
Noll R, Windschmitt J, Hofman E, Bergmann N, Schaaf J. Retrieval-Augmented Generation for Medical Decision-Making in Emergency Care,“ 2025 47th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), Copenhagen, Denmark, 2025, pp. 1-7, doi: 10.1109/EMBC58623.2025.11253463 .
Mueller A, Schaaf J. User or Patient or Human or Person? – Development of a practical framework for applying user-centered-design with vulnerable populations for digital transformation in healthcare. Digital Health, 2025;11. doi:https://doi.org/10.1177/20552076251375835
Ajmal A, Bouissou O, Brash J, Cheeseman S, Banduge PG, Gomes AL, Revie L, Ross E, Theophanous S, Thonnard J, Van Maanen A, Vengadeswaran A, Wolf A, Fernandez XM (2025). Establishing standards: harmonising coding principles for a minimal cancer dataset in the OMOP Common Data Model. ESMO Real World Data and Digital Oncology. https://doi.org/10.1016/j.esmorw.2025.100179
Weber M, Noll R, Marchl A, Facchinello C, Gründewaldt A, Hügel C, Musleh K, Wagner TOF, Schaaf J (2025). MedBot vs. RealDoc: Efficacy of Large Language Modeling in Physician-Patient Communication for Rare Diseases. Journal of the American Medical Informatics Association, ocaf034,. doi: MedBot vs RealDoc: efficacy of large language modeling in physician-patient communication for rare diseases
Noll R, Berger A, Facchhinello C, Stratmann K, Schaaf J, Storf H (2025). Enhancing Diagnostic Precision for Rare Diseases Using Case-Based Reasoning. Journal of the American Medical Informatics Association. Enhancing diagnostic precision for rare diseases using case-based reasoning
Noll R, Berger A, Kieu D, Mueller T, Bohmann F, Müller A, Holtz S, Stoffers P, Hoehl S, Guengoeze O, Eckardt JN, Storf H, Schaaf J (2025). Assessing GPT-3.5 and DeepL for Terminology Translation in the Medical Domain: A Comparative Study on the Human Phenotype Ontology. BMC Medical Informatics and Decision Making, 25, 237. https://doi.org/10.1186/s12911-025-03075-8
Schaaf J, Weber M, Pantel JT, Lemos M, Noll R. Development of an Interactive Online Course on Artificial Intelligence in Medicine: A Study on Design and Implementation. Stud Health Technol Inform. 323, 506-510. IOS Press Ebooks – Development of an Interactive Online Course on Artificial Intelligence in Medicine: A Study on Design and Implementation
Neff MC, Schütze D, Schaaf J, Storf H (2025). Development of a Patient Dashboard in a clinical decision support system for primary care. Stud Health Technol Inform. 324, 170-175. IOS Press Ebooks – Development of a Patient Dashboard in a Clinical Decision Support System for Primary Care
Köhler S, Svea H, Neff MC, Schaaf J, von Wagner M, Müller B, Schütze D. Evaluating the Prototype of a Clinical Decision Support System in Primary Care: A Qualitative Study. JMIR Formative Research. doi: https://doi.org/10.2196/69875
Hoogestraat AT, Schmitz T, Voigt A, Baumgartl T, Müller F, Biermann P, Risk Principe Study Group, von Landesberger T , Wulff A (2025). Developing a User-Centric System for Hospital-Onset Bacteremia Risk Assessment and Visualization: An Integrated Requirements Analysis Approach. Stud Health Technol Inform. 324. 51-56. IOS Press Ebooks – Developing a User-Centric System for Hospital-Onset Bacteremia Risk Assessment and Visualization: An Integrated Requirements Analysis Approach
Noll R, Storf H, Schaaf J (2025). HealthTermFinder: Enhancing Multilingual Interoperability. Stud Health Technol Inform. 327, 2-6. http://dx.doi.org/10.3233/SHTI250262
Bachir S, Vengadeswaran A, Storf H, Kadioglu D (2025): Metadata-driven approach to generalisation of transformations in ETL processes. Stud Health Technol Inform. 327, 1438-1442. IOS Press Ebooks – Metadata-Driven Approach to Generalisation of Transformations in ETL Processes
Vasseur J, Kadioglu D, Storf H (2025). Concept for a Framework for Integrating Registry and Routine Healthcare Data in Germany. Stud Health Technol Inform. 2025;331:122-131. IOS Press Ebooks – Concept for a Framework for Integrating Registry and Routine Healthcare Data in Germany
Knecht T, Göbel J, Zieschank A, Storf H, Vasseur J (2025). Open Source Registry System for Rare Diseases (OSSE): Development and Usability Evaluation of an Initial Audit Trail Prototype. Stud Health Technol Inform. 2025;331:112-121. IOS Press Ebooks – Open Source Registry System for Rare Diseases (OSSE): Development and Usability Evaluation of an Initial Audit Trail Prototype
Wamba Makem LD, Vengadeswaran A, Takoulegha DA, Kadioglu D (2025). Conception and development of a metadata search portal based on the Data Dictionary Minimal Information Model (DDMIM) specification. Stud Health Technol Inform. IOS Press Ebooks – Conception and Development of a Metadata Search Portal Based on the Data Dictionary Minimal Information Model (DDMIM) Specification
Tyc O, Kraus N, Wiedemann T, Erasmus HP, Ortiz C, Vasseur J, Hourfar K, Seidl C, Mücke MM, Storf H, Dahmer I, Herrmann E, Zeuzem S, Kempf V, Trebicka J, Welsch C, Brieger A. Enterococcus faecium DNA in Acute Decompensated Cirrhosis: A Key Player in Inflammation and Kidney Dysfunction. Frontiers in Medicine.;12:1629210. Frontiers | Enterococcus faecium DNA in acute decompensated cirrhosis: a key player in inflammation and kidney dysfunction
Block P, Schaefer J, Maurer F, Storf H. Quality of Machine Translations in Medical Texts: An Analysis Based on Standardised Evaluation Metrics. STUD HEALTH TECHNOL INFORM. 2025;331:63-72.
NCBI – WWW Error Blocked Diagnostic .
2024
Neff MC, Schütze D, Holtz S, Köhler SM, Vasseur J, Ahmadi N, Storf H, Schaaf J. (2024). Development and expert inspections of the user interface for a primary care decision support system. Int J Med Inf. 2024 Oct 11;105651 https://doi.org/10.1016/j.ijmedinf.2024.105651
Berger A, Grimm KL, Noll R, Wagner TOF. Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems. Orphanet J Rare Dis 19, 340 (2024). https://doi.org/10.1186/s13023-024-03347-y
Zoch M, Gierschner C, Andreef A.K., Henke E, Sedlmayr M, Müller G, Tippmann J, Hebestreit H, Choukair D, Hoffmann G, Fritz-Kebede F, Toepfner N, Biergans S, Verbücheln R, Schaaf J, Fleck J, Wirth F, Schepers J, Prasser F. Secondary Use of Patient Data within Decentralized Studies Using the Example of Rare Diseases in Germany – A Data Scientist’s Exploration of Process and Lessons Learned. Digital Health. doi: https://journals.sagepub.com/doi/10.1177/20552076241265219
Ahmadi N, Zoch M, Guengoeze O, Faccionello C, Mondorf A, Stratman K, Musleh K, Erasmus HP, Tchertov J, Gebler J, Schaaf J, Frischen L, Nasirian A, Dai J, Henke E, Tremblay D, Srisuwananukorn A, Bornhäuser M, Röllig C, Eckhardt JN, Middeke JM, Wolfien M, Sedlmayr M (2024). How to customize Common Data Models for rare diseases: an OMOP-based implementation and lessons learned. Orphanet Journal of Rare Diseases,, 19, 298. https://doi.org/10.1186/s13023-024-03312-9
Schulz AN, Carus J, Wiederhold AJ, Johanns O, Peters F, Rath N, Rausch K, Hollezeck B, Katalinic K, the AI-Care Working Group (…,Pinnau M, Reinert D, Schaaf J, Storf H, …), Gundler C (2024). Learning debiased graph representations from the OMOP common data model for synthetic data generation. BMC Medical Research Methodology, 24, 136. doi: https://doi.org/10.1186/s12874-024-02257-8
Schaaf J, Weber T, von Wagner M, Stephan C, Voigt A, Noll R, Storf H, Müller A (2024). Exploring patient-centered design solutions of a telehealth app for HIV − A qualitative study. International Journal of Medical Informatics., 189. https://doi.org/10.1016/j.ijmedinf.2024.105524
Peng Y, Bathelt F, Gebler R, Gött R, Heidenreich A, Henke E, Kadioglu D, Lorenz S, Vengadeswaran A, Sedlmayr (2024). Use of Metadata-Driven Approaches for Data Harmonization in the Medical Domain: Scoping Review. JMIR Med Inform 2024. https://doi.org/10.2196/52967
Barkauskas R, Jenewein T, Scheiper-Welling S, Wilmes V, Niess C, Petzel-Witt S, Reitz A, Gradhand E, Falagkari A, Papathanasiou M, Wakili R, Leistner DM, Vasseur J, Göbel J, Storf H, Toennes SW, Kettner M, Verhoff MA, Beckmann B, Kauferstein S, Corvest E (2024). From rare events to systematic data collection: the RESCUED registry for sudden cardiac death in the young in Germany. Clin Res Cardiol (2024) https://doi.org/10.1007/s00392-024-02460-z
Schmid K, Sehring J, Németh A, Harter PN, Weber KJ, Vengadeswaran A, Storf H, Seidemann C, Karki K, Fischer P, Dohmen H, Selignow C, von Deimling A, Grau S, Schröder U, Plate KH, Stein M, Uhl E, Acker T, Amsel D (2024). DistSNE: Distributed computing and online visualization of DNA methylation-based central nervous system tumor classification. Brain Pathol. 2024 May. https://doi.org/10.1111/bpa.13228
Weber MT, Wagner TOF, Berger A, Storf H, Schaaf J, Noll R. (2024) Editing Physicians‘ Responses Using GPT for Academic Research. Stud Health Technol Inform. 313, 101-106. doi: IOS Press Ebooks – Editing Physicians’ Responses Using GPT-4 for Academic Research
Noll R, Berger A, Facchinello C, Güngöze O, von Wagner M, Hoehl S, Neff MC, Storf H, Schaaf J (2024).
Translation of ontological concepts from English into German using commercial translation software and expert evaluation. Stud Health Technol Inform. 310, 89-93. IOS Press Ebooks – Translation of Ontological Concepts from English into German Using Commercial Translation Software and Expert Evaluation
Neff MC, Schaaf J, Noll R, Holtz S, Schütze D, Köhler SM, Müller B, Ahmadi N, von Wagner M, Storf H (2024).
Initial user-centered design of an AI-based clinical decision support system for primary care. Stud Health Technol Inform. 310, 1051-1055. IOS Press Ebooks – Initial User-Centred Design of an AI-Based Clinical Decision Support System for Primary Care
Schaaf J, Khour A, Zerr T, Scheidt J, Neff M, Storf H (2024).
Rare diseases in citizen science – preliminary experiences in developing a personal health app. Stud Health Technol Inform. 310, 1151-1155. IOS Press Ebooks – Rare Diseases in Citizen Science – Preliminary Experiences in Developing a Personal Health App
2023
Noll R, Voigt A, Koehler S, Mueller A, Stephan C, Carney J, Weber T, von Wagner M, Storf H, Schaaf J (2023).
Enhancing HIV Patient Support through Telehealth: Exploring Design Solutions. Stud Health Technol Inform. 309, 150-154. IOS Press Ebooks – Enhancing HIV Patient Support Through Telehealth: Exploring Design Solutions
Noll R, Frischen L, Boeker M, Storf H, Schaaf J (2023). Machine translation of standardised medical terminology using natural language processing: A Scoping Review. New Biotechnoly. 29;77:120-129. https://doi.org/10.1016/j.nbt.2023.08.004
Schaaf J, Noll R, Voigt A, Koehler S, Stephan C, Carney J, von Wagner M, Weber T, Storf H, Müller A (2023).
Interviews with HIV experts for development of a mobile health application in HIV care – a qualitative study. Healthcare. 11 (15), 2180. Interviews with HIV Experts for Development of a Mobile Health Application in HIV Care—A Qualitative Study
Schuetze D, Holtz S, Neff M, Koehler S, Schaaf J, Frischen L, Sedlmayr B, Mueller B (2023).
Requirements analysis for an AI-based clinical decision support system for general practitioners: A user-centered design process. BMC Med Inform Decis Mak, 23, 144. https://doi.org/10.1186/s12911-023-02245-w
Noll R, Schaaf J, von Wagner M, Storf H (2023). Diagnosis support for rare diseases using phenotypic profiles. Stud Health Technol Inform. 302, 607-608. doi: IOS Press Ebooks – Diagnosis Support for Rare Diseases Using Phenotypic Profiles
Skevaki C, Chinthrajah RS, Fomina D, Rohde G, Cao S, He Z, Serdotetskova S, Seidemann C, Grünewaldt A, Vengadeswaran A, Xie M, Karsonova A, Karaulov A, Nadeau KC, Chung HR, Renz H (2023).
Comorbidity defines asthmatic patients‘ risk of COVID-19 hospitalization: A global perspective. J Allergy Clin Immunol. 2023 Jan;151(1):110-117. doi: 10.1016/j.jaci.2022.09.039
Ahmadi N, Zoch M, Kelbert P, Noll R, Schaaf J,Wolfien M, Sedlmayr M (2023). Methods used in the development of Common Data Models for health data – a Scoping Review. JMIR Med Inform 2023;11:e45116. JMIR Medical Informatics – Methods Used in the Development of Common Data Models for Health Data: Scoping Review
Kerstin Gierend, Sherry Freiesleben, Dennis Kadioglu, Fabian Siegel, Thomas Ganslandt, Dagmar Waltemath (2023). The Status of data management practices throughout the Data Life Cycle: a Mixed-Method Study across MIRACUM Data Integration Centers. (Submitted) PREPRINT (Version 1) available at Research Square [The Status of data management practices throughout the Data Life Cycle: a Mixed-Method Study across MIRACUM Data Integration Centers
Silber AS , Platte S, Afsheen A, Arora S, Kadioglu D, Schmidt M, Storf H, Chiocchetti AG, Freitag C. (2023)
Admission rates and clinical profiles of children and youth with eating disorders treated as inpatients before and during the COVID-19 pandemic in a German University Hospital. Front. Public Health
Sec. Public Mental Health Volume 11 – 2023 | doi: 10.3389/fpubh.2023.1281363 . Frontiers | Admission rates and clinical profiles of children and youth with eating disorders treated as inpatients before and during the COVID-19 pandemic in a German university hospital
2022
Georgi, T. W., Zieschank, A., Kornrumpf, K., Kurch, L., Sabri, O., Körholz, D., … & Posch, S. (2022)
Automatic classification of lymphoma lesions in FDG-PET–Differentiation between tumor and non-tumor uptake. PloS one, 17(4), e0267275.
Vasseur J, Zieschank A, Goebel J, Kollmann S, Koenig J, Schaaf J, Kadioglu D, Storf H(2022)
Development of an Interactive Dashboard for OSSE Rare Disease Registries. Stud Health Technol Inform. 293, 187-188. IOS Press Ebooks – Development of an Interactive Dashboard for OSSE Rare Disease Registries
Graessner H., Schaefer F, Storf H (2022)
Versorgernetzwerke für Menschen mit Seltenen Erkrankungen: Daten und Expertise bündeln. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022 https://doi.org/10.1007/s00103-022-03592-1
Schepers J, Fleck J, Schaaf J (2022)
Die Medizininformatik-Initiative und Seltene Erkrankungen: Routinedaten der nächsten Generation für Diagnose, Therapiewahl und Forschung. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2022. https://doi.org/10.1007/s00103-022-03606-y
Schaaf J, Sedlmayr M, Sedlmayr B, Storf H (2022)
User-Centred Development of a Diagnosis Support System for Rare Diseases. Stud Health Technol Inform. 293, 11-18. doi 10.3233/SHTI220341
Neff M, Storf H, Vasseur J, Scheidt J, Zerr T, Khouri A, Schaaf J (2022)
Identifying project topics and requirements in a citizen science project in rare diseases – a participative study (2022). Orphanet J Rare Dis. Identifying project topics and requirements in a citizen science project in rare diseases: a participative study – Orphanet Journal of Rare Diseases
Noll R, Storf H, Schaaf J (2022)
The use of computer-assisted Case-Based Reasoning to support clinical decision-making – a scoping review. Case-Based Reasoning Research and Development. ICCBR 2022. Lecture Notes in Computer Science(), vol 13405. Springer, Cham. doi: https://doi.org/10.1007/978-3-031-14923-8_26
Noll R, Minor M, Berger A, Naab L, Bay M, Storf H, Schaaf J (2022)
Conception, development and validation of classification methods for coding support of Rare Diseases using Artificial Intelligence (2022). Stud Health Technol Inform. 295, 422-425. IOS Press Ebooks – Conception, Development and Validation of Classification Methods for Coding Support of Rare Diseases Using Artificial Intelligence
Schaaf J, Zieschank A, Wagner T.O.F., Storf H (2022)
The ERN-LUNG Population Registry: aims, implementation and first results. Stud Health Technol Inform 2022. 295. 55-58. IOS Press Ebooks – The ERN-LUNG Population Registry: Aims, Software-Implementation and First Results .
Gruendner J, Deppenwiese N, Folz M, Köhler T, Kroll B, Prokosch HU, Rosenau L, Rühle M, Scheidl MA, Schüttler C, Sedlmayr B, Twrdik A, Kiel A, Majeed RW (2022)
Architecture for a feasibility query portal for distributed COVID-19 Fast Healthcare Interoperability Resources (FHIR) patient data repositories: Design and Implementation Study, JMIR Medical Informatics. doi: 10.2196/36709
Schmidt M, Gebauer S, Bartholmes A, Kadioglu D, Kleesiek J, Hamm B, Vogl TJ, Penzkofer T, Bucher AM, Storf H (2022)
CODEX meets RACOON – A concept for collaborative documentation of clinical and radiological COVID-19 data. Stud Health Technol Inform 2022 IOS Press Ebooks – CODEX Meets RACOON – A Concept for Collaborative Documentation of Clinical and Radiological COVID-19 Data
Reinecke I, Gruhl M, Pinnau M, Altun FB, Folz M, Zoch M, Bathelt F, Sedlmayr M (2022)
An OHDSI Atlas extension to support feasbility requests in a research network. doi: 10.3233/SHTI220778
Abaza H, Kadioglu D, Martin S, Papadopoulou A, dos Santos B, Schaefer F, Storf H (2022)
Domain-specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research, JMIR Med Inform 2022;10(5):e32158, doi: 10.2196/32158
2021
Kapsner LA, Mang JM, Mate S, Seuchter SA, Vengadeswaran A, Bathelt F, Deppenwiese N, Kadioglu D, Kraska D, Prokosch HU. (2021)
Linking a Consortium-Wide Data Quality Assessment Tool with the MIRACUM Metadata Repository. Appl Clin Inform. 2021 Aug;12(4):826-835. doi: 10.1055/s-0041-1733847 . Epub 2021 Aug 25. PMID: 34433217 ; PMCID: PMC8387126. (NCBI – WWW Error Blocked Diagnostic )
Häuslschmid R, Fitzer K, Blasini R, Altun FB, Hampf C, Macho P, Prokosch H, Gulden C (2021) Patient Recruitment System for Clinical Trials: A Mixed-Methods Study about Requirements at 10 University Hospitals, JMIR Medical Informatics. doi: 10.2196/28696
Schaaf J, Neff M, Scheidt J, Steglich M, Storf H (2021)
Citizen science in human medicine and the use of software-systems: a rapid scoping review. Stud Health Technol Inform 2021 Sep 21;283:172-179. doi: IOS Press Ebooks – Citizen Science in Human Medicine and the Use of Software-Systems: A Rapid Scoping Review
Schueler K, Zieschank A, Goebel J, Vasseur J, Schaaf J, Hohenfellner K, Wildenhain S,Storf H (2021)
A Medical Report Feature for OSSE Rare Disease Registries. Stud Health Technol Inform 2021; 281. IOS Press Ebooks – A Medical Report Feature for OSSE Rare Disease Registries
Neff M, Schaaf J, Tegtbauer N, Schaefer J, Till M, Wagner Thomas O.F., Graeßner H, Mundlos C, Storf H (2021)
se-atlas – Versorgungsatlas für Menschen mit Seltenen Erkrankungen. Internist, Springer-Verlag https://doi.org/10.1007/s00108-021-01085-y
Berger A, Rustemeier AK, Göbel J, Kadioglu D, Britz V, Schubert K, Mohnike K, Storf H, Wagner TOF (2021)
How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system, Orphanet J Rare Dis 16, 198 (2021) How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system – Orphanet Journal of Rare Diseases
Schaaf J, Sedlmayr M, Sedlmayr B, Prokosch HU, Storf H (2021)
Evaluation of a Clinical Decision Support System for Rare Diseases – a qualitative study. BMC Med Inform Decis Mak, 21(65). https://doi.org/10.1186/s12911-021-01435-8v1
Häuslschmid R, Fitzer K, Blassini R, Altun FB, Hamp C, Macho P, Prokosch HU, Gulden C (2021)
Towards a Patient Recruitment System for Clinical Trials: A mixed-Methods Study about the Status Quo & User Requirements at 10 University Hospitals. JMIR 2021 (preprint). https://doi.org/10.2196/28696
Schaaf J, Chalmers J, Omran H, Pennekamp P, Sitbon O, Wagner TOF, Reis A, Kadioglu D, Storf H (2021)
The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases – Background, Conception and Implementation. Stud Health Technol Inform 2021; 278. 10.3233/SHTI210049
Schaaf J, Sedlmayr M, Prokosch HU, Tegtbauer N, Kadioglu D, Schaefer J, Boeker M, Storf H (2021)
Visualization of similiar patiens in a Clinical Decision Support System for Rare Diseases – a focus group study. Stud Health Technol Inform 2021; 278. IOS Press Ebooks – Visualization of Similar Patients in a Clinical Decision Support System for Rare Diseases – A Focus Group Study
Reinert D, Schüler K, Storf H (2021)
Usability Design in Medical Informatics: A Prospective Research Project. Studies in Health Technology and Informatics 281 (2021): 1015-1016. DOI: 10.3233/SHTI210333
2020
Scheible R, Kadioglu D, Ehl S, Blum M, Boeker M, Folz M, Grimbacher B, Göbel J, Klein C, Nieters A, Rusch S, Kindle G, Storf H (2020). Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry. JMIR Med Inform 2020;8(10):e17420
Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry
Schaaf J, Sedlmayr M., Schaefer J, Storf H (2020). Diagnosis of Rare Diseases: A scoping review of clinical decision support Systems. Orphanet J Rare Dis 15, 263. Diagnosis of Rare Diseases: a scoping review of clinical decision support systems – Orphanet Journal of Rare Diseases
Schaaf J, Prokosch HU, Boeker M, Schaefer J, Vasseur J, Storf H, Sedlmayr M (2020). Interviews with experts in Rare Diseases for the development of Clinical Decision Support System software – a qualitative study. BMC Med Inform Decis Mak. 20,230 (2020). Interviews with experts in rare diseases for the development of clinical decision support system software – a qualitative study – BMC Medical Informatics and Decision Making
Storf H, Stausberg J, Kindle G, Quadder B, Schlangen M, Walter MC, Ückert F, Wagner TOF (2020). Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE), Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2020/6;63(6):761-770, doi: 10.1007/s00103-020-03151-6
Walther D, Steinmann O, Wagner TOF, Storf H (2020). Implementation of EXABO – an Expert Advisory Board for the European Reference Network for Rare Respiratory Diseases
Stud Health Technol Inform 2020; 270:986-990. doi: 10.3233/SHTI200309
Schaaf J, Sedlmayr M, Prokosch HU, Ganslandt T, Schade-Brittinger C, von Wagner M, Kadioglu D, Schubert K, Lee-Kirsch MA, Kraemer B, Winner B, Mueller T, Schaefer J, Wagner T.O.F, Bruckner-Tuderman L, Tuescher O, Boeker M, Storf H (2020). The status quo of Rare Diseases Centres for the development of a Clinical Decision Support System – a cross-sectional study. Stud Health Technol Inform 2020 Jun 23;271:176-183. doi: 10.3233/SHTI200094 .
Von Schnurbein J, Adams CL, Akinci B, Ceccarini G, D’Apice MR, Gamberini A, Hennekam R, Jéru I, Lattanzi G, Miehle K, Nagel G, Novelli G, Santini F, Silva ES, Savage DB, Sbraccia P, Schaaf J, Sorkina E, Taneles G, Vantyghem MC, Vatier C, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M (2020). European lipodystrophy registry: background and structure. Orphanet J Rare Dis 15, 17 (2020). European lipodystrophy registry: background and structure – Orphanet Journal of Rare Diseases
2019
Möller, B., Chen, H., Schmidt, T., Zieschank, A., Patzak, R., Türke, M., … & Posch, S. (2019)
rhizoTrak: a flexible open source Fiji plugin for user-friendly manual annotation of time-series images from minirhizotrons. Plant and Soil, 444, 519-534.
Vengadeswaran A, Neuhaus P, Hegselmann B, Storf H, Kadioglu D (2019)
Semantically annotated Metadata: Interconnecting Samply.MDR and MDM-Portal. Stud Health Technol Inform 2019; 267:86-92. doi: 10.3233/SHTI190810
Schaaf J, Boeker M, Ganslandt T, Haverkamp C, Hermann T, Kadioglu D, Prokosch HU, Wagner T, von Wagner M, Schäfer J, Sedlmayr M, Storf H (2019). Finding the Needle in the Hay Stack: An Open Architecture to Support Diagnosis of Undiagnosed Patients
Stud Health Technol Inform. 2019; 264:1580-1581. doi: 10.3233/SHTI190544
Gulden C, Blasini R, Nassirian A, Stein A, Altun FB, Kirchner M, Prokosch HU, Boeker M. Prototypical Clinical Trial Registry Based on Fast Healthcare Interoperability Resources (FHIR): Design and Implementation Study. JMIR Med Inform. 2021 Jan 12;9(1):e20470. doi: 10.2196/20470 . PMID: 33433393 ; PMCID: PMC7837997.
Gulden C, Landerer I, Nassirian A, Altun FB, Andrae J: Extraction and prevalence of structured data elements from free-text clinical trial eligibility criteria. ICT for health science research: Proceedings oft he EFMI STC 2019 Specia Topic Conference. Hg. Shabo A, Prokosch HU, Häyrinen K, Wolf KH, Martin-Sanchez F, Löbe M, Deserno TM. Amsterdam: IOS Pr., 2019. (Studies in health technology and informatics; 258): 226-230. doi:10.3233/978-1-61499-959-1-226| IOS Press Ebooks – Extraction and Prevalence of Structured Data Elements in Free-Text Clinical Trial Eligibility Criteria
2018
Prokosch HU, Acker T, Bernarding J, Binder H, Boeker M, Boerries M, Daumke P, Ganslandt T, Hesser J, Höning G, Neumaier M, Marquardt K, Renz H, Rothkötter HJ, Schade-Brittinger C, Schmücker P, Schüttler J, Sedlmayr M, Serve H, Sohrabi K, Storf H (2018)
MIRACUM: Medical Informatics in Research and Care in University Medicine – A Large Data Sharing Network to Enhance Translational Research and Medical Care,
Methods Inf Med. 2018, 57(1), 57:82-91, doi: 10.3414/ME17-02-0025
Von Schnurbein J, Schaaf J, Cecarinic G, Vantyghemd MC, Vatiere C, Nagel G, Araujo-Vilar D, Wabitsch M. Osse Registry for Patients with Lipodystrophy Run by the European Consortium of Lipodystrophy (ECLip). Hormone Research in Paediatrics 2019, 82.
Schaefer J, Tegtbauer N, Pfeiffer W, Wagner TOF, Storf H (2018)
Mapping of Health Care Providers for People with Rare Diseases – from Vision to Implementation
Stud Health Technol Inform 2018, 247:940-944, doi: 10.3233/978-1-61499-852-5-940
Walther D, Steinmann O, Schaefer J, Wagner TOF, Storf H (2018)
Conception of an Expert Advisory Board for the European Reference Network for Rare Respiratory Diseases
Stud Health Technol Inform 2018, 247:236-240, doi: 10.3233/978-1-61499-852-5-236
Schaaf J, Kadioglu D, Goebel J, Behrendt CA, Roos M, Van Enckevort D, Ueckert F, Wagner TOF, Storf H (2018)
OSSE goes FAIR – Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases
Stud Health Inform 2018, 253:209-213, doi: 10.3233/978-1-61499-896-9-209
Kadioglu D, Breil B, Knell C, Lablans M, Mate S, Schlue D, Serve H, Storf H, Ückert F, Wagner TOF, Weingardt P, Prokosch HU (2018)
Samply.MDR – A Metadata Repository And Its Usage In Various Research Networks
Stud Health Inform 2018, 253:50-54, doi: 10.3233/978-1-61499-896-9-50
Babac A, Frank M, Pauer F, Litzkendorf S, Rosenfeldt D, Lührs V, Biehl L, Hartz T, Storf H, Schauer F, Wagner TOF, Graf von der Schulenburg JM (2018)
Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany
BMC Health Serv Res 2018 Feb 9;18(1):99. doi: 10.1186/s12913-018-2872-9 .
Litzkendorf S, Hartz T, Göbel J, Storf H, Pauer F, Babac A, Lührs V, Bruckner-Tuderman L, Schauer F, Schmidtke J, Biehl L, Wagner TOF, Ückert F, Graf von der Schulenburg JM, Frank M (2018)
Conceptualization and Implementation of the Central Information Portal on Rare Diseases (ZIPSE)
JMIR Res Protoc 2018 May 11; 7(5) e112, doi: 10.2196/resprot.7425 .
Maier C, Lang L, Storf H, Vormstein P, Bieber R, Bernarding J, Herrmann T, Haverkamp C, Horki P, Laufer J, Berger F, Höning G, Fritsch HW, Schüttler J, Ganslandt T, Prokosch HU, Sedlmayr M (2018)
Towards Implementation of OMOP in a German University Hospital Consortium
Appl Clin Inform 2018 Jan;9(1):54-61. doi: 10.1055/s-0037-1617452
2017
Mate S, Vormstein P, Kadioglu D, Majeed R, Lablans M, Prokosch HU, Storf H (2017)
On-The-Fly Query Translation between i2b2 and Samply in the German Biobank Node (GBN) Prototypes,
Stud Health Inform 2017, 243:42-46, doi: 10.3233/978-1-61499-808-2-42
Mate S, Kadioglu D, Majeed RW, Stöhr MR, Folz M, Vormstein P, Storf H, Brucker DP, Keune D, Zerbe N, Hummel M, Senghas K, Prokosch HU, Lablans M (2017)
Proof-of-Concept Integration of Heterogeneous Biobank IT Infrastructures into a Hybrid Biobanking Network,
Stud Health Inform 2017, 243:100-104, doi: 10.3233/978-1-61499-808-2-100
Storf H, Schaaf J, Kadioglu D, Göbel J, Wagner TOF, Ückert F (2017)
Registries for rare diseases : OSSE – An open-source framework for technical implementation,
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017/5;60(5):523-531, doi:10.1007/s00103-017-2536-7
Haase J, Wagner TOF, Storf H (2017)
se-atlas – the health service information platform for people with rare diseases : Supporting research on medical care institutions and support groups,
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017/5;60(5):503-509, doi:10.1007/s00103-017-2529-6
Litzkendorf S, Pauer F, Zeidler J, Göbel J, Storf H, Graf von der Schulenburg JM (2017)
Central information portal on rare diseases : Implementation of quality- and needs-oriented information management
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017/5;60(5):494-502, doi:10.1007/s00103-017-2527-8
Pauer F, Litzkendorf S, Göbel J, Storf H, Zeidler J, Graf von der Schulenburg JM (2017)
Rare Diseases on the Internet: An Assessment of the Quality of Online Information
Journal of Medical Internet Research 19/1: e23, doi:10.2196/jmir.7056