Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (7)

2026

  1. Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders

    iScience, Vol. 29, Núm. 8

2025

  1. Cohort profile: the CORDELIA study (Collaborative cOhorts Reassembled Data to study mEchanisms and Longterm Incidence of chronic diseAses)

    European Journal of Epidemiology, Vol. 40, Núm. 5, pp. 581-599

  2. Polygenic risk of idiopathic pulmonary fibrosis and COVID-19 severity

    ERJ Open Research, Vol. 11, Núm. 2

  3. Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

    Nutrients , Vol. 17, Núm. 7

2017

  1. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

    Human Mutation, Vol. 38, Núm. 2, pp. 148-151

2010

  1. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series

    Molecular Genetics and Metabolism, Vol. 99, Núm. 4, pp. 358-366

2009

  1. Three-dimensional sonographic calculation of the volume of intracranial structures in growth-restricted and appropriate-for-gestational age fetuses

    Ultrasound in Obstetrics and Gynecology, Vol. 33, Núm. 5, pp. 530-537