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Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. Among authors: schepers j. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
The use of machine learning in rare diseases: a scoping review.
Schaefer J, Lehne M, Schepers J, Prasser F, Thun S. Schaefer J, et al. Among authors: schepers j. Orphanet J Rare Dis. 2020 Jun 9;15(1):145. doi: 10.1186/s13023-020-01424-6. Orphanet J Rare Dis. 2020. PMID: 32517778 Free PMC article. Review.
Why digital medicine depends on interoperability.
Lehne M, Sass J, Essenwanger A, Schepers J, Thun S. Lehne M, et al. Among authors: schepers j. NPJ Digit Med. 2019 Aug 20;2:79. doi: 10.1038/s41746-019-0158-1. eCollection 2019. NPJ Digit Med. 2019. PMID: 31453374 Free PMC article. Review.
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 M, Gierschner C, Andreeff AK, Henke E, Sedlmayr M, Müller G, Tippmann J, Hebestreit H, Choukair D, Hoffmann GF, Fritz-Kebede F, Toepfner N, Berner R, Biergans S, Verbücheln R, Schaaf J, Fleck J, Wirth FN, Schepers J, Prasser F. Zoch M, et al. Among authors: schepers j. Digit Health. 2024 Aug 10;10:20552076241265219. doi: 10.1177/20552076241265219. eCollection 2024 Jan-Dec. Digit Health. 2024. PMID: 39130526 Free PMC article.
92 results