Publications
2024
- Embedding AI in complex healthcare systems – The case of AI-enabled diagnosticsGillner, S.Social Science & Medicine; 340: 116442 (2024).doi: 10.1016/j.socscimed.2023.116442
- Are the European reference networks for rare diseases ready to embrace machine learning? A mixed‑methods studyGeorgi IskrovOrphanet Journal of Rare Diseases; 19:25 (2024)doi: doi.org/10.1186/s13023-024-03047-7
2023
- Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping reviewIskrov, G; Stefanov, R; Kostadinov, K; Stefanov, R, et al.Front. Public Health; 11:1214766 (2023).doi: 10.3389/fpubh.2023.1214766
- Next-generation sequencing-based newborn screening initiatives in Europe: an overviewBros-Facer, V; Taylor, S; Patch, C.Rare Dis Orphan Drugs J; 2:21 (2023).doi: 10.20517/rdodj.2023.26
- Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project Ferlini, A., Gross, E.S., Garnier, N. et al.Orphanet J Rare Dis 18, 310 (2023)doi: 10.1186/s13023-023-02916-x
- Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in EuropeGarnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, et al.PLoS ONE 18(11) (2023)doi: 10.1371/journal.pone.0293503
2022
- Newborn Screening by Genomic Sequencing: Opportunities and Challenges Bick, D.; Ahmed, A.; Deen, D.; Ferlini, A.; Garnier, N.; Kasperaviciute, D.; Leblond, M.; Pichini, A.; Rendon, A.; Satija, A.; et al.Int. J. Neonatal Screen 8, 40 (2022)doi: 10.3390/ijns8030040