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The complexity of funding rare disease research: an IRDiRC assessment of the landscape

Fabry nephropathy: a treatable cause of chronic kidney disease

Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy case study

The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities

Review of methods for estimating the prevalence of rare diseases

The international rare disease research consortium (IRDiRC): making rare disease research efforts more efficient and collaborative around the world

Federated learning for rare disease detection: a survey

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

Molecular mechanisms for targeted treatments in fragile X syndrome

RNA antisense and silencing strategies using synthetic drugs for rare muscular and neuromuscular diseases

The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease

Targeting neutrophil serine proteinases in alpha-1 antitrypsin deficiency