Publicacións en colaboración con investigadores/as de Goethe University Frankfurt (5)

2022

  1. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541

  2. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331

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

2014

  1. Common variant at 16p11.2 conferring risk of psychosis

    Molecular Psychiatry, Vol. 19, Núm. 1, pp. 108-114

  2. Synaptic, transcriptional and chromatin genes disrupted in autism

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