Publicacións en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (11)

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

2021

  1. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

2017

  1. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

2016

  1. Progress in pharmacogenetics: Consortiums and new strategies

    Drug Metabolism and Personalized Therapy, Vol. 31, Núm. 1, pp. 17-23

2014

  1. 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. Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome

    Clinica Chimica Acta, Vol. 421, pp. 184-190

2007

  1. Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma

    Cancer Research, Vol. 67, Núm. 19, pp. 9561-9567

2003

  1. A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease

    Journal of Investigative Dermatology, Vol. 121, Núm. 6, pp. 1356-1359

  2. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation, Vol. 22, Núm. 4, pp. 301-312

  3. Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.

    Human mutation, Vol. 22, Núm. 5, pp. 417-418

2002

  1. Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula

    Annals of Human Genetics, Vol. 66, Núm. 1, pp. 29-36