Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario da Coruña (10)

2024

  1. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene

    Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989

2008

  1. Large scale analysis of HCM mutations in sudden cardiac death

    Forensic Science International: Genetics Supplement Series, Vol. 1, Núm. 1, pp. 549-550

  2. Papilomatosis oral

    Revista Clinica Espanola, Vol. 208, Núm. 6, pp. 305-306

  3. Three novel mutations in the CFTR gene identified in Galician patients

    Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522

2007

  1. Clinical and molecular characterization of Wilson disease in Spanish patients

    Hepatology Research, Vol. 37, Núm. 1, pp. 18-26

2002

  1. Ectopic adrenocorticotropic hormone production by a noncatecholamine secreting pheochromocytoma

    Journal of Urology, Vol. 167, Núm. 6, pp. 2514-2515