Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (42)

2025

  1. CALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrier

    Blood cancer journal

  2. Nutritional status and quality of life of patients with advanced gastroenteropancreatic neuroendocrine neoplasms in Spain: the NUTRIGETNE (GETNE-S2109) study

    Oncologist, Vol. 30, Núm. 2

  3. Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

    Orphanet Journal of Rare Diseases , Vol. 20, Núm. 1

  4. Reusing zebrafish facility equipment: Planning, investment and what we have learned

    Laboratory Animals, Vol. 59, Núm. 1, pp. 40-46

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, Vol. 106, Núm. 5, pp. 614-624

  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

  7. Longitudinal transcriptional immune profiles and persistent wheezing in moderate-to-late preterm infants

    Pediatric Allergy and Immunology, Vol. 35, Núm. 10

  8. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  9. Whole Blood Transcriptome Analysis in Congenital Anemia Patients

    International Journal of Molecular Sciences, Vol. 25, Núm. 21

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