Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

Risultati finali

Viable implementation of the metadata repository incl. report on data access right management

Pubblicazioni

Effect of tissue fixation on the optical properties of structural components assessed by non-linear microscopy imaging

Autori: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Pubblicato in: Optica Publishing Group, Numero Vol. 14, Numero 8, 2023, Pagina/e 3988-4002, ISSN 2156-7085
Editore: The Optical Society
DOI: 10.1364/boe.488453

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review

Autori: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov
Pubblicato in: Frontiers in Public Health, 2023, Pagina/e 11, ISSN 2296-2565
Editore: Frontiers in Public Health
DOI: 10.3389/fpubh.2023.1214766

Genomic newborn screening: Are we entering a new era of screening?

Autori: Ute Spiekerkoetter, David Bick, Richard Scott, Henrietta Hopkins, Tanja Krones, Edith Sky Gross, James R. Bonham
Pubblicato in: Journal of Inherited Metabolic Disease, 2023, Pagina/e 759-1003, ISSN 1573-2665
Editore: John Wiley & Sons Ltd
DOI: 10.1002/jimd.12650

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Autori: Avid Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott
Pubblicato in: Int. J. Neonatal Screening, 2022
Editore: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Risultati finali

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