Publicaciones en colaboración con investigadores/as de Birmingham Women's Hospital (8)

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. Is the association of replete status in Vitamin D with better results in IVF demonstrated?

    Human Reproduction

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

2013

  1. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

    The Lancet Neurology, Vol. 12, Núm. 12, pp. 1159-1169

2009

  1. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Nature Genetics, Vol. 41, Núm. 7, pp. 829-832

2007

  1. Clinical and molecular phenotype of Aicardi-Goutières syndrome

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

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

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

2001

  1. Systemic lupus erythematosus [6]

    Lancet