Most Cited Papers In Last Two Years

Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force

Connecting academia and industry for innovative drug repurposing in rare diseases: it is worth a try

Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system

Federated learning for rare disease detection: a survey

Newborn screening in South Africa: the past, present, and plans for the future

The Australian landscape of newborn screening in the genomics era

Next-generation sequencing-based newborn screening initiatives in Europe: an overview

Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry

Fabry nephropathy: a treatable cause of chronic kidney disease

The European joint programme on rare diseases: building the rare diseases research ecosystem

The inflammatory pathogenetic pathways of Fabry nephropathy

Paradox of possibilities: the rare landscape in the Asia Pacific Region

Investigating Fabry disease - some lessons learned

Bumetanide to treat autism spectrum disorders: are complex administrative regulations fit to treat heterogeneous disorders?

Molecular mechanisms for targeted treatments in fragile X syndrome

Neutrophil serine proteases

Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease

Framing the European Rare Diseases field through a structured movement of patient organisations