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

Deliverables

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

Author(s): Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Published in: Optica Publishing Group, Issue Vol. 14, Issue 8, 2023, Page(s) 3988-4002, ISSN 2156-7085
Publisher: 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

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

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

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

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Author(s): 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
Published in: Int. J. Neonatal Screening, 2022
Publisher: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Deliverables

Publications

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