Centro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (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