Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (33)

2024

  1. Chromosomal instability in aneuploid acute lymphoblastic leukemia associates with disease progression

    EMBO molecular medicine, Vol. 16, Núm. 1, pp. 64-92

  2. European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

    Advances in Therapy

  3. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  4. HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

    Genes, Vol. 15, Núm. 6

  5. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics

  6. Integrative single-cell expression and functional studies unravels a sensitization to cytarabine-based chemotherapy through HIF pathway inhibition in AML leukemia stem cells

    HemaSphere, Vol. 8, Núm. 2

2023

  1. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

  2. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

    GeroScience, Vol. 45, Núm. 1, pp. 543-553

  3. Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study

    Andrology, Vol. 11, Núm. 1, pp. 24-31

  4. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

    Genes, Vol. 14, Núm. 6

  5. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 56

  6. The relapsed acute lymphoblastic leukemia network (ReALLNet): a multidisciplinary project from the spanish society of pediatric hematology and oncology (SEHOP)

    Frontiers in Pediatrics, Vol. 11

2022

  1. A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain

    Global and Regional Health Technology Assessment, Vol. 9, pp. 14-21

  2. Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

    Cancers, Vol. 14, Núm. 15

  3. Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia

    Molecular Oncology, Vol. 16, Núm. 16, pp. 2899-2919

  4. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

    International Journal of Molecular Sciences, Vol. 23, Núm. 15

  5. Development of Lung Function in Preterm Infants During the First Two Years of Life

    Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245

  6. Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases

    Anales de Pediatria, Vol. 96, Núm. 3, pp. 253-255

  7. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  8. Optimising care and follow-up of adults with achondroplasia

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1