Publicaciones en colaboración con investigadores/as de Hospital Infanta Cristina (4)

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2017

  1. Pitfalls of trio-based exome sequencing: Imprinted genes and parental mosaicism - MAGEL2 as an example

    Genetics in Medicine

2013

  1. A multicenter study of sensitization profiles in an allergic pediatric population in an area with high allergen exposure

    Journal of Investigational Allergology and Clinical Immunology, Vol. 23, Núm. 5, pp. 337-344

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