Publicaciones en colaboración con investigadores/as de St George's, University of London (4)

2019

  1. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 181, Núm. 4, pp. 502-508

2018

  1. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 3 approved]

    Wellcome Open Research, Vol. 3

2014

  1. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Nature Genetics, Vol. 46, Núm. 4, pp. 385-388

2007

  1. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

    Nature Genetics, Vol. 39, Núm. 8, pp. 963-965