Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (36)

2023

  1. A human genome editing–based MLL::AF4 ALL model recapitulates key cellular and molecular leukemogenic features

    Blood, Vol. 142, Núm. 20, pp. 1752-1756

  2. Comprehensive characterization of a novel, oncogenic and targetable SEPTIN6::ABL2 fusion in T-ALL

    British Journal of Haematology

  3. Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

    Nature Communications, Vol. 14, Núm. 1

  4. OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

    Current Issues in Molecular Biology, Vol. 45, Núm. 1, pp. 465-478

  5. The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent

    Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895

  6. Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

    International Journal of Molecular Sciences, Vol. 24, Núm. 14

  7. Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

    International Journal of Molecular Sciences, Vol. 24, Núm. 21

  8. Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

    Genes, Vol. 14, Núm. 10

2022

  1. Development and Characterization of a Factor V‐Deficient CRISPR Cell Model for the Correction of Mutations

    International Journal of Molecular Sciences, Vol. 23, Núm. 10

  2. OGG1 Inhibition Triggers Synthetic Lethality and Enhances The Effect of PARP Inhibitor Olaparib in BRCA1-Deficient TNBC Cells

    Frontiers in Oncology, Vol. 12

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. Small molecule inhibitor of OGG1 blocks oxidative DNA damage repair at telomeres and potentiates methotrexate anticancer effects

    Scientific Reports, Vol. 11, Núm. 1

  3. Targeting OGG1 arrests cancer cell proliferation by inducing replication stress

    Nucleic Acids Research, Vol. 48, Núm. 21, pp. 12234-12251

2020

  1. Impaired condensin complex and Aurora B kinase underlie mitotic and chromosomal defects in hyperdiploid B-cell ALL

    Blood, Vol. 136, Núm. 3, pp. 313-327

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. Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 8, pp. 1591-1597

2018

  1. Gain-of-function mutations in DNMT3A in patients with paraganglioma

    Genetics in Medicine, Vol. 20, Núm. 12, pp. 1644-1651

  2. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

    Revista Espanola de Cardiologia, Vol. 71, Núm. 7, pp. 545-552

  3. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review

    Clinical Genetics, Vol. 93, Núm. 4, pp. 762-775

2017

  1. A new variant in PHKA2 is associated with glycogen storage disease type IXa

    Molecular Genetics and Metabolism Reports, Vol. 10, pp. 52-55