Most Cited Papers In Last Two Years

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

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

The Australian landscape of newborn screening in the genomics era

Pharmacovigilance of gene therapy medicinal products

Rare diseases with temporomandibular joint manifestations: a systematic review

2017-2023: state of the art of gene therapies in rare diseases in Europe: the dynamics of clinical R&D, new approved treatments and expected therapies in the pipelines

Federated learning for rare disease detection: a survey

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

Development of newborn screening policies in Spain 2003-2022: what do we actually need to reach an agreement?

Molecular mechanisms for targeted treatments in fragile X syndrome

Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care

Could federated data analysis be the catalyst accelerating the introduction of newborn genome screening for the detection of genetic disease?

A systematic review of real-world applications of genome sequencing for newborn screening

Correction: A report and review of the recurrent c.811C > T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years

Cathepsin C: structure, function, and pharmacological targeting

Coenzyme Q10, Vitamin E and Polyvitamin B: an exploratory double-blind randomized cross-over study in Phelan-McDermid Syndrome

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

Biallelic cubilin pathogenic variants as a cause of « benign » proteinuria: implications for clinical management