Publicaciones en colaboración con investigadores/as de Broad Institute (13)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

    Nature genetics, Vol. 55, Núm. 3, pp. 369-376

2022

  1. FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum

    Journal of Medical Genetics, Vol. 59, Núm. 11, pp. 1069-1074

  2. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

    Nature, Vol. 604, Núm. 7906, pp. 502-508

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

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

2021

  1. Counterpoint. Early intervention for psychosis risk syndromes: Minimizing risk and maximizing benefit

    Schizophrenia Research, Vol. 227, pp. 10-17

2020

  1. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    Cell, Vol. 180, Núm. 3, pp. 568-584.e23

  2. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)

    Nature Neuroscience

2019

  1. The genomic history of the Iberian Peninsula over the past 8000 years

    Science, Vol. 363, Núm. 6432, pp. 1230-1234

2017

  1. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

    Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224

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

2011

  1. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

    Human Molecular Genetics, Vol. 20, Núm. 20, pp. 4076-4081