Publicacions en col·laboració amb investigadors/es de Instituto de Investigación Sanitaria Hospital 12 de Octubre (9)

2024

  1. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

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

    eLife, Vol. 13

  3. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

  4. Succinate Dehydrogenase and Human Disease: Novel Insights into a Well-Known Enzyme

    Biomedicines, Vol. 12, Núm. 9

2023

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

    Nature

  2. Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions

    PLoS ONE, Vol. 18, Núm. 9 September

  3. Recurrence of immune complex and complement-mediated membranoproliferative glomerulonephritis in kidney transplantation

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 1, pp. 222-235

  4. The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages

    iScience, Vol. 26, Núm. 8

2022

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

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