Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

2017

  1. A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis

    Gastric Cancer, Vol. 20, Núm. 6, pp. 998-1003

2016

  1. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

    Nature Communications, Vol. 7

2015

  1. Characterization of large structural genetic mosaicism in human autosomes

    American Journal of Human Genetics, Vol. 96, Núm. 3, pp. 487-497

  2. Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

    Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656

2012

  1. Detectable clonal mosaicism and its relationship to aging and cancer

    Nature Genetics, Vol. 44, Núm. 6, pp. 651-658