Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (12)

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

    iScience, Vol. 26, Núm. 8

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

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

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

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

  2. Lncrna-mrna co-expression analysis identifies al133346.1/ccn2 as biomarkers in pediatric b-cell acute lymphoblastic leukemia

    Cancers, Vol. 12, Núm. 12, pp. 1-15

2018

  1. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

    Frontiers in Genetics, Vol. 9, Núm. JAN

  2. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

    British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206

2013

  1. Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry

    Neurobiology of Disease, Vol. 55, pp. 140-151

2008

  1. Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement

    Journal of Investigative Dermatology, Vol. 128, Núm. 6, pp. 1565-1575

  2. Room temperature storage of cultured human articular chondrocytes

    Cell Preservation Technology, Vol. 6, Núm. 3, pp. 199-206