Publicacións en colaboración con investigadores/as de University of Utah (5)

2019

  1. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578

  2. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

    Nature Communications

  3. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

2014

  1. Synaptic, transcriptional and chromatin genes disrupted in autism

    Nature, Vol. 515, Núm. 7526, pp. 209-215

2012

  1. Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members

    Breast Cancer Research and Treatment, Vol. 132, Núm. 3, pp. 1009-1023