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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.
PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023.
PLoS One. 2023.
PMID: 37992053
Free PMC article.
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
Ferlini A, Gross ES, Garnier N; Screen4Care consortium.
Ferlini A, et al.
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.
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Patient preferences in genetic newborn screening for rare diseases: study protocol.
Martin S, Angolini E, Audi J, Bertini DE, Bruno LP, Coulter J, Ferlini A, Fortunato F, Frankova V, Garnier N, Grauman Å, Gross E, Hauber B, Hansson M, Kirschner J, Knieling F, Kyosovksa G, Ottombrino S, Novelli A, Raming R, Sansen S, Saier C, Veldwijk J.
Martin S, et al. Among authors: ottombrino s.
BMJ Open. 2024 Apr 19;14(4):e081835. doi: 10.1136/bmjopen-2023-081835.
BMJ Open. 2024.
PMID: 38643010
Free PMC article.
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Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, Malan V, Chatron N, Ottombrino S, Dentici ML, Novelli A, Digilio MC, Sanlaville D.
Bensaid S, et al. Among authors: ottombrino s.
Am J Med Genet A. 2024 Mar 21:e63580. doi: 10.1002/ajmg.a.63580. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38511524
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