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Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Gillner, Sandra; Blankart, Carl Rudolf; Gross, Edith Sky; Gumus, Gulcin; Mitova, Elena; Stefanov, Stefan; Stefanov, Georgi; Stefanov, Rumen (2024). Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study. Orphanet journal of rare diseases, 19(1) BioMed Central 10.1186/s13023-024-03047-7
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; ... (2023). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PLoS ONE, 18(11), e0293503. Public Library of Science 10.1371/journal.pone.0293503
