Publicacións en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (35)

2024

  1. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

  2. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  3. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

2023

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

    Nature

  2. Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis

    HemaSphere, Vol. 7, Núm. 1, pp. E818

2022

  1. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493

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

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

2021

  1. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

    Scientific Reports, Vol. 9, Núm. 1

  2. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  3. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Human Mutation, Vol. 39, Núm. 5, pp. 593-620

2016

  1. Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients

    Radiotherapy and Oncology, Vol. 121, Núm. 3, pp. 431-439

2015

  1. Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients

    Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67

2014

  1. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    Human Genetics, Vol. 133, Núm. 5, pp. 525-534

  2. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

    International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097

  3. Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain

    Schizophrenia Research, Vol. 159, Núm. 1, pp. 107-113

2013

  1. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

    BMC Genomics, Vol. 14, Núm. 1

  2. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

  3. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

    Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618