2018

1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

   Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

2. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

   Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467