Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

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. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    BMC Genomics, Vol. 8