Publicacións en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (14)

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

2018

  1. An immunohistochemical score to predict the outcome for oral squamous cell carcinoma

    Journal of Oral Pathology and Medicine, Vol. 47, Núm. 4, pp. 375-381

  2. Prognostic significance of cyclins A2, B1, D1, and E1 and CCND1 numerical aberrations in oral squamous cell carcinomas

    Analytical Cellular Pathology, Vol. 2018

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

2006

  1. ERCC4 associated with breast cancer risk: A two-stage case-control study using high-throughput genotyping

    Cancer Research, Vol. 66, Núm. 19, pp. 9420-9427

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