Publications in collaboration with researchers from University of Oxford (2)

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. LRIG2 mutations cause urofacial syndrome

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