Publicaciones en colaboración con investigadores/as de Emory University School of Medicine (9)

2022

  1. A normative chart for cognitive development in a genetically selected population

    Neuropsychopharmacology, Vol. 47, Núm. 7, pp. 1379-1386

  2. 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. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

    Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4496-4510

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. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

    Nature Medicine, Vol. 26, Núm. 12, pp. 1912-1918

2018

  1. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

    American Journal of Medical Genetics, Part A, Vol. 176, Núm. 10, pp. 2172-2181

2016

  1. Imaging mass spectrometry assists in the classification of diagnostically challenging atypical Spitzoid neoplasms

    Journal of the American Academy of Dermatology, Vol. 75, Núm. 6, pp. 1176-1186.e4

2015

  1. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

    JAMA Psychiatry, Vol. 72, Núm. 4, pp. 377-385

2014

  1. Synaptic, transcriptional and chromatin genes disrupted in autism

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