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Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
Orphanet J Rare Dis. 2023 Oct 4;18(1):310. doi: 10.1186/s13023-023-02916-x.
Orphanet J Rare Dis. 2023.
PMID: 37794437
Free PMC article.
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: chalandon as.
PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023.
PLoS One. 2023.
PMID: 37992053
Free PMC article.
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Together4RD position statement on collaboration between European reference networks and industry.
Hedley V, Bolz-Johnson M, Hernando I, Kenward R, Nabbout R, Romero C, Schaefer F, Upadhyaya S; Together4RD Steering Group.
Hedley V, et al.
Orphanet J Rare Dis. 2023 Sep 5;18(1):272. doi: 10.1186/s13023-023-02853-9.
Orphanet J Rare Dis. 2023.
PMID: 37670358
Free PMC article.
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