Publicacións en colaboración con investigadores/as de Hospital Universitario Nuestra Señora de Candelaria (29)

2023

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

    Nature

  2. Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))

    Nature

  3. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

  4. HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19

    HLA, Vol. 102, Núm. 6, pp. 731-739

  5. Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19

    Translational Psychiatry, Vol. 13, Núm. 1

2022

  1. A genome-wide association study of survival in patients with sepsis

    Critical Care, Vol. 26, Núm. 1

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

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

  3. Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE

    Semergen, Vol. 48, Núm. 8, pp. 6

  4. Spanish National Registry of Paediatric Coeliac Disease: Changes in the Clinical Presentation in the 21st Century

    Journal of pediatric gastroenterology and nutrition, Vol. 74, Núm. 6, pp. 805-811

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

2020

  1. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2017

  1. A pathway-based association study reveals variants from Wnt signalling genes contributing to asthma susceptibility

    Clinical and Experimental Allergy, Vol. 47, Núm. 5, pp. 618-626

2016

  1. ESPGHAN 2012 guidelines for Coeliac disease diagnosis: Validation through a retrospective Spanish multicentric study

    Journal of Pediatric Gastroenterology and Nutrition, Vol. 62, Núm. 2, pp. 284-291

  2. Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene

    Journal of Allergy and Clinical Immunology, Vol. 137, Núm. 3, pp. 964-966

  3. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2015

  1. 6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype

    Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16

  2. Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

    Molecular Genetics and Metabolism

  3. Fine mapping of the myosin light chain kinase (MYLK) gene replicates the association with asthma in populations of Spanish descent

    Journal of Allergy and Clinical Immunology, Vol. 136, Núm. 4, pp. 1116-1118.e9

  4. Phenylketonuria's impact on physical growth in a Spanish cohort

    Phenylalanine: Dietary Sources, Functions and Health Effects (Nova Science Publishers, Inc.), pp. 27-48