Publications in collaboration with researchers from Boston Children's Hospital (8)

2022

  1. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease (Nature Communications, (2020), 11, 1, (995), 10.1038/s41467-019-14275-y)

    Nature Communications

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

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

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

  3. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    Nature Communications, Vol. 11, Núm. 1

2018

  1. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

    Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138

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. Synaptic, transcriptional and chromatin genes disrupted in autism

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