Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (14)

2024

  1. Metabolomic profile of neuroendocrine tumors identifies methionine, porphyrin, and tryptophan metabolisms as key dysregulated pathways associated with patient survival

    European Journal of Endocrinology, Vol. 190, Núm. 1, pp. 62-74

2023

  1. Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

    Nature Communications, Vol. 14, Núm. 1

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  3. 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

2020

  1. Two multi-fragment recombination events resulted in the β-lactam-resistant serotype 11A-ST6521 related to Spain9V-ST156 pneumococcal clone spreading in south-western Europe, 2008 to 2016

    Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin, Vol. 25, Núm. 16

2019

  1. Prorepair-B: A prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer

    Journal of Clinical Oncology, Vol. 37, Núm. 6, pp. 490-503

2017

  1. Therapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients

    EMBO Molecular Medicine, Vol. 9, Núm. 11, pp. 1574-1588

2015

  1. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626

2011

  1. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

    European Journal of Human Genetics, Vol. 19, Núm. 12, pp. 1218-1225

  2. Multiple platform assessment of the EGF dependent transcriptome by microarray and deep tag sequencing analysis

    BMC Genomics, Vol. 12

2009

  1. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

    Human Molecular Genetics, Vol. 18, Núm. 10, pp. 1795-1804

2008

  1. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

    BMC Medical Genetics, Vol. 9