Publicaciones en colaboración con investigadores/as de Yale School of Medicine (38)

2024

  1. Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis

    ERJ Open Research, Vol. 10, Núm. 1

  2. Erratum: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome medicine (2023) 15 1 (22))

    Genome medicine

2023

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

    Nature

  2. Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia (Nature Genetics, (2022), 54, 11, (1621-1629), 10.1038/s41588-022-01192-y)

    Nature Genetics

  3. PCSK6 and Survival in Idiopathic Pulmonary Fibrosis

    American journal of respiratory and critical care medicine, Vol. 207, Núm. 11, pp. 1515-1524

  4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2022

  1. Discovery of 42 genome-wide significant loci associated with dyslexia

    Nature Genetics, Vol. 54, Núm. 11, pp. 1621-1629

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  2. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

    Science immunology, Vol. 6, Núm. 62

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

    American Journal of Respiratory and Critical Care Medicine, Vol. 201, Núm. 5, pp. 564-574

  3. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

2016

  1. Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism

    Biochimica et Biophysica Acta - Proteins and Proteomics, Vol. 1864, Núm. 9, pp. 1195-1205

  2. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  4. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

    American Journal of Human Genetics, Vol. 98, Núm. 6, pp. 1249-1255

2013

  1. Heterogeneous nuclear ribonucleoprotein A2/B1 is a tissue-specific aldosterone target gene with prominent induction in the rat distal colon

    American Journal of Physiology - Gastrointestinal and Liver Physiology, Vol. 304, Núm. 2

  2. State-dependent FRET reports calcium- and voltagedependent gating-ring motions in BK channels

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 110, Núm. 13, pp. 5217-5222

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544

2009

  1. Applications of Tissue Microarrays in Renal Physiology and Pathology

    Renal and Urinary Proteomics: Methods and Protocols (Wiley-VCH Verlag GmbH & Co. KGaA), pp. 97-118