Publicacións en colaboración con investigadores/as de Hospital Universitario La Fe (6)

2024

  1. Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Neurology: Genetics, Vol. 10, Núm. 2

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

2021

  1. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

  2. Novel and recurrent PNPLA1 mutations in spanish patients with autosomal recessive congenital ichthyosis; Evidence of a founder effect

    Acta Dermato-Venereologica, Vol. 99, Núm. 10, pp. 894-898

2017

  1. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219