Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)

2024

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

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

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

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

2022

  1. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

    Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437

  2. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

2009

  1. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

    Human Molecular Genetics, Vol. 18, Núm. 10, pp. 1795-1804

2008

  1. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

    BMC Medical Genetics, Vol. 9

2007

  1. Clinical and molecular phenotype of Aicardi-Goutières syndrome

    American Journal of Human Genetics, Vol. 81, Núm. 4, pp. 713-725

  2. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

    American Journal of Medical Genetics, Part A, Vol. 143, Núm. 10, pp. 1108-1113