Publications in collaboration with researchers from University of Manchester (6)

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

  2. LRIG2 mutations cause urofacial syndrome

    American Journal of Human Genetics, Vol. 92, Núm. 2, pp. 259-264

  3. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome

    Human Mutation, Vol. 34, Núm. 8, pp. 1066-1070

2010

  1. Mutations in HPSE2 Cause Urofacial Syndrome

    American Journal of Human Genetics, Vol. 86, Núm. 6, pp. 963-969

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