The use of machine learning in rare diseases: a scoping review
Schaefer, Julia, Lehne, Moritz, Schepers, Josef, Prasser, Fabian, Thun, Sylvia
Published in Orphanet journal of rare diseases (09.06.2020)
Published in Orphanet journal of rare diseases (09.06.2020)
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Journal Article
Record linkage based patient intersection cardinality for rare disease studies using Mainzelliste and secure multi-party computation
Kussel, Tobias, Brenner, Torben, Tremper, Galina, Schepers, Josef, Lablans, Martin, Hamacher, Kay
Published in Journal of translational medicine (08.10.2022)
Published in Journal of translational medicine (08.10.2022)
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Journal Article
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
Zoch, Michele, Gierschner, Christian, Andreeff, Anne-Katrin, Henke, Elisa, Sedlmayr, Martin, Müller, Gabriele, Tippmann, Jenny, Hebestreit, Helge, Choukair, Daniela, Hoffmann, Georg F, Fritz-Kebede, Fleur, Toepfner, Nicole, Berner, Reinhard, Biergans, Stephanie, Verbücheln, Raphael, Schaaf, Jannik, Fleck, Julia, Wirth, Felix Nikolaus, Schepers, Josef, Prasser, Fabian
Published in Digital health (01.01.2024)
Published in Digital health (01.01.2024)
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Journal Article
Why digital medicine depends on interoperability
Lehne, Moritz, Sass, Julian, Essenwanger, Andrea, Schepers, Josef, Thun, Sylvia
Published in NPJ digital medicine (20.08.2019)
Published in NPJ digital medicine (20.08.2019)
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Journal Article
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A, Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda, Ferlini, Alessandra
Published in PloS one (22.11.2023)
Published in PloS one (22.11.2023)
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Journal Article
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A, Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Lysogene, Marie Trad, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, van Olden, Rudolf Walther, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Stefanov, Georgi, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda
Published in Orphanet journal of rare diseases (04.10.2023)
Published in Orphanet journal of rare diseases (04.10.2023)
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Journal Article
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
Published in PloS one (01.01.2023)
Published in PloS one (01.01.2023)
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Journal Article
Improving Clinical Documentation of Rare Neuromuscular Diseases: Development of a Standardised Information Model
Hübner, Miriam, Nyoungui, Elisabeth, Gazzero, Elisabetta, Hassoun, Lina, Zschüntzsch, Jana, Krefting, Dagmar, Schepers, Josef, Röttgerd, Richard
Published in Studies in health technology and informatics (22.08.2024)
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Published in Studies in health technology and informatics (22.08.2024)
Journal Article
Ontology-Based Semantic Annotation of Documents in the Context of Patient Identification for Clinical Trials
Geibel, Peter, Trautwein, Martin, Erdur, Hebun, Zimmermann, Lothar, Krüger, Stefan, Schepers, Josef, Jegzentis, Kati, Müller, Frank, Nolte, Christian Hans, Becker, Anne, Frick, Markus, Setz, Jochen, Scheitz, Jan Friedrich, Tütüncü, Serdar, Usnich, Tatiana, Holzgreve, Alfred, Schaaf, Thorsten, Tolxdorff, Thomas
Published in On the Move to Meaningful Internet Systems: OTM 2013 Conferences (2013)
Published in On the Move to Meaningful Internet Systems: OTM 2013 Conferences (2013)
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