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

Livrables

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

Publications

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

Auteurs: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Publié dans: Optica Publishing Group, Numéro Vol. 14, Numéro 8, 2023, Page(s) 3988-4002, ISSN 2156-7085
Éditeur: 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

Auteurs: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov
Publié dans: Frontiers in Public Health, 2023, Page(s) 11, ISSN 2296-2565
Éditeur: Frontiers in Public Health
DOI: 10.3389/fpubh.2023.1214766

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

Auteurs: Ute Spiekerkoetter, David Bick, Richard Scott, Henrietta Hopkins, Tanja Krones, Edith Sky Gross, James R. Bonham
Publié dans: Journal of Inherited Metabolic Disease, 2023, Page(s) 759-1003, ISSN 1573-2665
Éditeur: John Wiley & Sons Ltd
DOI: 10.1002/jimd.12650

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Auteurs: 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
Publié dans: Int. J. Neonatal Screening, 2022
Éditeur: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Livrables

Publications

Partager cette page

Télécharger