Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria La Fe (15)

2023

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

    Nature

  2. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

2022

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

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

  2. Whole-genome sequencing reveals host factors underlying critical COVID-19

    Nature, Vol. 607, Núm. 7917, pp. 97-103

2021

  1. Esophageal microbiome in active eosinophilic esophagitis and changes induced by different therapies

    Scientific Reports, Vol. 11, Núm. 1

  2. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

2020

  1. Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene

    Cancers, Vol. 12, Núm. 12, pp. 1-21

  2. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  3. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

    Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108

2019

  1. Challenges to drug discovery for celiac disease and approaches to overcome them

    Expert Opinion on Drug Discovery, Vol. 14, Núm. 10, pp. 957-968

  2. Simultaneous depression of immunological synapse and endothelial injury is associated with organ dysfunction in community-acquired pneumonia

    Journal of Clinical Medicine, Vol. 8, Núm. 9

2016

  1. Fecal Gluten Peptides Reveal Limitations of Serological Tests and Food Questionnaires for Monitoring Gluten-Free Diet in Celiac Disease Patients

    American Journal of Gastroenterology, Vol. 111, Núm. 10, pp. 1456-1465

2014

  1. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    Breast Cancer Research, Vol. 16

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

  2. Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

    PLoS ONE, Vol. 8, Núm. 2