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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: mitova e. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.
Raycheva R, Kostadinov K, Mitova E, Iskrov G, Stefanov G, Vakevainen M, Elomaa K, Man YS, Gross E, Zschüntzsch J, Röttger R, Stefanov R. Raycheva R, et al. Among authors: mitova e. Orphanet J Rare Dis. 2024 Apr 6;19(1):147. doi: 10.1186/s13023-024-03162-5. Orphanet J Rare Dis. 2024. PMID: 38582900 Free PMC article.
The core clock gene, Bmal1, and its downstream target, the SNARE regulatory protein secretagogin, are necessary for circadian secretion of glucagon-like peptide-1.
Biancolin AD, Martchenko A, Mitova E, Gurges P, Michalchyshyn E, Chalmers JA, Doria A, Mychaleckyj JC, Adriaenssens AE, Reimann F, Gribble FM, Gil-Lozano M, Cox BJ, Brubaker PL. Biancolin AD, et al. Among authors: mitova e. Mol Metab. 2020 Jan;31:124-137. doi: 10.1016/j.molmet.2019.11.004. Epub 2019 Nov 21. Mol Metab. 2020. PMID: 31918914 Free PMC article.