Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)

2024

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

    Clinical Genetics

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

    Genes, Vol. 14, Núm. 6

2022

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

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

2020

  1. Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study

    Anales de Pediatria, Vol. 92, Núm. 4, pp. 200-207

  2. 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

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. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Genetics in Medicine, Vol. 18, Núm. 12, pp. 1226-1234

2015

  1. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 902-906

2014

  1. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1136-1142