Instituto Universitario de Tecnologías Biomédicas
Institut d'investigació
Yale School of Medicine
New Haven, Estados UnidosPublicacions en col·laboració amb investigadors/es de Yale School of Medicine (39)
2024
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Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis
ERJ Open Research, Vol. 10, Núm. 1
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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
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A second update on mapping the human genetic architecture of COVID-19
Nature
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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
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Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
Journal of Experimental Medicine, Vol. 220, Núm. 5
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PCSK6 and Survival in Idiopathic Pulmonary Fibrosis
American journal of respiratory and critical care medicine, Vol. 207, Núm. 11, pp. 1515-1524
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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
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Discovery of 42 genome-wide significant loci associated with dyslexia
Nature Genetics, Vol. 54, Núm. 11, pp. 1621-1629
2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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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
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
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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
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
2016
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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
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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
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
Autophagy, Vol. 12, Núm. 1, pp. 1-222
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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
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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
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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
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Guidelines for the use and interpretation of assays for monitoring autophagy
Autophagy, Vol. 8, Núm. 4, pp. 445-544