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Journal of Neuroinflammation|June 9, 2019
The heme and radical scavenger α<sub>1</sub>-microglobulin (A1M) confers early protection of the immature brain following preterm intraventricular hemorrhageOlga Romantsik, Alex Adusei Agyemang, Snjolaug Sveinsdóttir, et al.
Orphanet Journal of Rare Diseases|May 15, 2025
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care projectChristina Saier, Stefaan Sansen, Joanne Berghout, et al.
International Journal of Neonatal Screening|June 1, 2022
Towards Achieving Equity and Innovation in Newborn Screening across EuropeJaka Sikonja, Urh Groselj, Maurizio Scarpa, et al.
Orphanet Journal of Rare Diseases|August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a TreatabolomeAntonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Plos One|November 22, 2023
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in EuropeNicolas Garnier, Joanne Berghout, Aldona Zygmunt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
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