S. Beltran

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

J. González, G. Parra, M. Gut, 2022, The Journal of molecular diagnostics : JMD.

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Julius O. B. Jacobsen, Orion J. Buske, D. Smedley, 2022, Human mutation.

Recommendations for whole genome sequencing in diagnostics for rare diseases

N. de Leeuw, J. Belmont, J. Clayton-Smith, 2022, European Journal of Human Genetics.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

P. Chinnery, H. Lochmüller, R. Horvath, 2021, Brain : a journal of neurology.