Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (25)

2024

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

    Advances in Therapy

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

    Genes, Vol. 15, Núm. 6

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

    eLife, Vol. 13

  4. 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

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. 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

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

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

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

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

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

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

2020

  1. First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene

    Anales de Pediatria, Vol. 92, Núm. 3, pp. 169-171

  2. Participant-funded clinical trials on rare diseases

    Anales de Pediatria, Vol. 93, Núm. 4, pp. 267.e1-267.e9

2017

  1. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39

2016

  1. Congenital pachyonychia: A new case associated with the KRT17 gene

    Anales de Pediatria, Vol. 84, Núm. 3, pp. 174-176

  2. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 1, pp. 210-216