Publications
2025
- “Code of ethical practice” for sharing and access to personal data for AI-/ ML-based technologies in rare diseases genetic NBS research project: a collaborative construction in a European IMI project Martin, S., Piperkova, A., Zschüntzsch, J. et alAI Ethicsdoi: doi.org/10.1007/s43681-025-00727-3
2024
- Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled TrialSchwartz O, Vill K, Pfaffenlehner M et al.JAMA Pediatrics 178(6):540-547 (2024)doi: 10.1001/jamapediatrics.2024.0492
- Data-driven prioritization of genetic disorders for global genomic newborn screening programsMinten T, Gold NB, Bick S et al.medRxiv 16:2024.03.24.24304797 (2024)doi: 10.1101/2024.03.24.24304797
- Improving Clinical Documentation of Rare Neuromuscular Diseases: Development of a Standardised Information ModelHübner M, Nyoungui E, Gazzero E, et al.Stud Health Technol Inform 316:1418-1419. (2024)doi: 10.3233/SHTI240677
- Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe diseaseTan, L., Zschüntzsch, J., Meyer, S. et al.Nat Commun 15, 7843 (2024)doi: doi.org/10.1038/s41467-024-52143-6
- The modernisation of newborn screening as a pan-European challenge – An international delphi studyGillner, S. Gumus G. Gross E. et al.Health Policy 149, 105162 (2024)doi: doi.org/10.1016/j.healthpol.2024.105162
- Patient preferences in genetic newborn screening for rare diseases: study protocolMartin S, Angolini E, Audi J, et al.BMJ Open 14:e081835 (2024)doi: doi.org/10.1136/bmjopen-2023-081835
- 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
- Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screeningRaycheva, R., Kostadinov, K., Mitova, E. et al.Orphanet Journal of Rare Diseases volume 19doi: doi.org/10.1186/s13023-024-03162-5
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
- Effect of tissue fixation on the optical properties of structural components assessed by non-linear microscopy imagingMarkus, A; Ferrari, D; Alves, F; Ramos-Gomes, FBiomedical Optics Express 14 (8) (2023)doi: 10.1364/BOE.488453
- Genomic newborn screening: Are we entering a new era of screening?Spiekerkoetter U, Bick D, Scott R, Hopkins H, Krones T, Gross E, Bonham J RJournal of Inherited Metabolic Diseasedoi: 10.1002/jimd.12650
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