OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases. - Jannik Schaaf; Dennis Kadioglu; Jens Goebel; Christian-Alexander Behrendt; Marco Roos; David van Enckevort; Frank Ückert; Fatlume Sadiku; Thomas O. F. Wagner; Holger Storf (GMDS, 2018)

Experiences from the National Demonstrator Study within the German Medical Informatics Initiative. - Thomas Ganslandt; Jannik Schaaf; Josef Schepers; Holger Storf; Felix Balzer; Silke Haferkamp; Robert Lodahl; Fabian Prasser; Ulrich Sax; Holger Stenzhorn; Hans-Ulrich Prokosch; Martin Boeker (AMIA, 2019)

Finding the Needle in the Hay Stack: An Open Architecture to Support Diagnosis of Undiagnosed Patients. - Jannik Schaaf; Martin Boeker; Thomas Ganslandt; Christian Haverkamp; Tim Hermann; Dennis Kadioglu; Hans-Ulrich Prokosch; Thomas O. F. Wagner; Michael von Wagner; Johanna Schaefer; Martin Sedlmayr; Holger Storf (MedInfo, 2019)

The Status Quo of Rare Diseases Centres for the Development of a Clinical Decision Support System - A Cross-Sectional Study. - Jannik Schaaf; Martin Sedlmayr; Hans-Ulrich Prokosch; Thomas Ganslandt; Carmen Schade-Brittinger; Michael von Wagner; Dennis Kadioglu; Katharina Schubert; Min Ae Lee-Kirsch; Bernhard K. Kraemer; Beate Winner; Tobias Mueller; et al. (dHealth, 2020)

The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases - Background, Conception and Implementation. - Jannik Schaaf; James Chalmers; Heymut Omran; Petra Pennekamp; Olivier Sitbon; Thomas O. F. Wagner; Abilio Reis; Dennis Kadioglu; Holger Storf (GMDS, 2020)

Visualization of Similar Patients in a Clinical Decision Support System for Rare Diseases - A Focus Group Study. - Jannik Schaaf; Martin Sedlmayr; Hans-Ulrich Prokosch; Niels Tegtbauer; Dennis Kadioglu; Johanna Schaefer; Martin Boeker; Holger Storf (GMDS, 2020)

Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study. - Jannik Schaaf; Hans-Ulrich Prokosch; Martin Boeker; Johanna Schaefer; Jessica Vasseur; Holger Storf; Martin Sedlmayr (BMC Medical Informatics Decis. Mak., 2020)

Citizen Science in Human Medicine and the Use of Software-Systems: A Rapid Scoping Review. - Jannik Schaaf; Michaela C. Neff; Jörg Scheidt; Michael Steglich; Holger Storf (GMDS, 2021)

A Medical Report Feature for OSSE Rare Disease Registries. - Katja Schüler; Axel Zieschank; Jens Göbel; Jessica Vasseur; Jannik Schaaf; Katharina Hohenfellner; Sarah Wildenhain; Holger Storf (MIE, 2021)

Evaluation of a clinical decision support system for rare diseases: a qualitative study. - Jannik Schaaf; Martin Sedlmayr; Brita Sedlmayr; Hans-Ulrich Prokosch; Holger Storf (BMC Medical Informatics Decis. Mak., 2021)

User-Centred Development of a Diagnosis Support System for Rare Diseases. - Jannik Schaaf; Martin Sedlmayr; Brita Sedlmayr; Holger Storf (dHealth, 2022)

Development of an Interactive Dashboard for OSSE Rare Disease Registries. - Jessica Vasseur; Axel Zieschank; Jens Göbel; Jannik Schaaf; Mareike Dahmer-Heath; Jens König; Dennis Kadioglu; Holger Storf (dHealth, 2022)

The Use of Computer-Assisted Case-Based Reasoning to Support Clinical Decision-Making - A Scoping Review. - Richard Noll; Jannik Schaaf; Holger Storf (ICCBR, 2022)

Conception, Development and Validation of Classification Methods for Coding Support of Rare Diseases Using Artificial Intelligence. - Richard Noll; Mirjam Minor; Alexandra Berger; Lukas Naab; Matthias Bay; Holger Storf; Jannik Schaaf (ICIMTH, 2022)

The ERN-LUNG Population Registry: Aims, Software-Implementation and First Results. - Jannik Schaaf; Axel Zieschank; Jens Goebel; Thomas Otto Friedrich Wagner; Petra Pennekamp; Heymut Omran; Holger Storf (ICIMTH, 2022)

Enhancing HIV Patient Support Through Telehealth: Exploring Design Solutions. - Richard Noll; Alexander Voigt; Susanne M. Köhler; Angelina Mueller; Christoph Stephan; Jonathan Carney; Michael von Wagner; Timm Weber; Holger Storf; Jannik Schaaf (EFMI-STC, 2023)

Initial User-Centred Design of an AI-Based Clinical Decision Support System for Primary Care. - Michaela Christina Neff; Jannik Schaaf; Richard Noll; Svea Holtz; Dania Schütze; Susanne Maria Köhler; Beate S. Müller; Najia Ahmadi; Michael von Wagner; Holger Storf (MedInfo, 2023)

Translation of Ontological Concepts from English into German Using Commercial Translation Software and Expert Evaluation. - Richard Noll; Alexandra Berger; Carlo Facchinello; Oya Güngöze; Michael von Wagner; Sebastian Hoehl; Michaela C. Neff; Holger Storf; Jannik Schaaf (MedInfo, 2023)

Rare Diseases in Citizen Science - Preliminary Experiences in Developing a Personal Health App. - Jannik Schaaf; Andreas Khouri; Thomas Zerr; Jörg Scheidt; Michaela C. Neff; Holger Storf (MedInfo, 2023)

Diagnosis Support for Rare Diseases Using Phenotypic Profiles. - Richard Noll; Jannik Schaaf; Michael von Wagner; Holger Storf (MIE, 2023)

Requirements analysis for an AI-based clinical decision support system for general practitioners: a user-centered design process. - Dania Schütze; Svea Holtz; Michaela C. Neff; Susanne M. Köhler; Jannik Schaaf; Lena S. Frischen; Brita Sedlmayr; Beate S. Müller (BMC Medical Informatics Decis. Mak., 2023)

Editing Physicians' Responses Using GPT-4 for Academic Research. - Magdalena T. Weber; Jannik Schaaf; Holger Storf; Thomas O. F. Wagner; Alexandra Berger; Richard Noll (dHealth, 2024)

Development and expert inspections of the user interface for a primary care decision support system. - Michaela Christina Neff; Dania Schütze; Svea Holtz; Susanne Maria Köhler; Jessica Vasseur; Najia Ahmadi; Holger Storf; Jannik Schaaf (Int. J. Medical Informatics, 2024)

Exploring patient-centered design solutions of a telehealth app for HIV - A qualitative study. - Jannik Schaaf; Timm Weber; Michael von Wagner; Christoph Stephan; Susanne Maria Köhler; Alexander Voigt; Richard Noll; Holger Storf; Angelina Mueller (Int. J. Medical Informatics, 2024)

MedBot vs RealDoc: efficacy of large language modeling in physician-patient communication for rare diseases. - Magdalena T. Weber; Richard Noll; Alexandra Marchl; Carlo Facchinello; Achim Grünewaldt; Christian Hügel; Khader Musleh; Thomas O. F. Wagner; Holger Storf; Jannik Schaaf (J. Am. Medical Informatics Assoc., 2025)

Assessing GPT and DeepL for terminology translation in the medical domain: A comparative study on the human phenotype ontology. - Richard Noll; Alexandra Berger; Dominik Kieu; Tobias Mueller; Ferdinand O. Bohmann; Angelina Mueller; Svea Holtz; Philipp Stoffers; Sebastian Hoehl; Oya Güngöze; Jan-Niklas Eckardt; Holger Storf; et al. (BMC Medical Informatics Decis. Mak., 2025)