Publicacións en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (18)

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

2019

  1. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Nature Communications, Vol. 10, Núm. 1

2018

  1. A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

    Cancer Research, Vol. 78, Núm. 18, pp. 5419-5430

  2. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

    Nature Genetics, Vol. 50, Núm. 7, pp. 968-978

2017

  1. Association analysis identifies 65 new breast cancer risk loci

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

  2. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  3. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

    Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672

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

  2. In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN

    Cancer Research, Vol. 67, Núm. 20, pp. 9731-9739

2004

  1. The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

    International Journal of Cancer, Vol. 108, Núm. 1, pp. 54-56

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