Publicacións en colaboración con investigadores/as de Icahn School of Medicine at Mount Sinai (3)

2022

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

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

  2. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability

    European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945

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