Publicaciones en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (7)

2021

  1. High mutational heterogeneity, and new mutations in the human coagulation factor v gene. Future perspectives for factor v deficiency using recombinant and advanced therapies

    International Journal of Molecular Sciences, Vol. 22, Núm. 18

  2. Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

    HemaSphere, Vol. 5, Núm. 4

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia

    Cell Stem Cell, Vol. 25, Núm. 5, pp. 607-621.e7

2013

  1. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2009

  1. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 3, pp. 1065-1068

2003

  1. Cyclin D1 gene (CCND1) mutations in endometrial cancer

    Oncogene, Vol. 22, Núm. 38, pp. 6115-6118