Integrative Genomics for the Interpretation of Genetic Loci Implicated in Neurodevelopmental Disorders

  • Rebecca L. Walker
    Address correspondence to Rebecca L. Walker, Ph.D., Broad Institute of MIT and Harvard, 415 Main St, Cambridge, MA 02142.
    Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California

    Broad Institute of MIT and Harvard, Cambridge, Massachusetts
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        • Geschwind D.H.
        • Flint J.
        Genetics and genomics of psychiatric disease.
        Science. 2015; 349: 1489-1494
        • Gandal M.J.
        • Leppa V.
        • Won H.
        • Parikshak N.N.
        • Geschwind D.H.
        The road to precision psychiatry: Translating genetics into disease mechanisms.
        Nat Neurosci. 2016; 19: 1397-1407
        • Ward L.D.
        • Kellis M.
        Interpreting noncoding genetic variation in complex traits and human disease.
        Nat Biotechnol. 2012; 30: 1095-1106
        • GTEx Consortium
        Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans.
        Science. 2015; 348: 648-660
        • Wang D.
        • Liu S.
        • Warrell J.
        • Won H.
        • Shi X.
        • Navarro F.C.P.
        • et al.
        Comprehensive functional genomic resource and integrative model for the human brain.
        Science. 2018; 362eaat8464
        • Parikshak N.N.
        • Luo R.
        • Zhang A.
        • Won H.
        • Lowe J.K.
        • Chandran V.
        • et al.
        Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.
        Cell. 2013; 155: 1008-1021
        • O’Brien H.E.
        • Hannon E.
        • Hill M.J.
        • Toste C.C.
        • Robertson M.J.
        • Morgan J.E.
        • et al.
        Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders.
        Genome Biol. 2018; 19: 1-13
        • Walker R.L.
        • Ramaswami G.
        • Hartl C.
        • Mancuso N.
        • Gandal M.J.
        • de la Torre-Ubieta L.
        • et al.
        Genetic control of expression and splicing in developing human brain informs disease mechanisms.
        Cell. 2019; 179: 750-771
        • Hammerschlag A.R.
        • Byrne E.M.
        • Bartels M.
        • Wray N.R.
        • Middeldorp C.M.
        • eQTLGen Consortium
        • BIOS Consortium
        Refining attention-deficit/hyperactivity disorder and autism spectrum disorder genetic loci by integrating summary data from genome-wide association, gene expression, and DNA methylation studies.
        Biol Psychiatry. 2020; 88: 470-479
        • Liao C.
        • Laporte A.D.
        • Spiegelman D.
        • Akçimen F.
        • Joober R.
        • Dion P.A.
        • Rouleau G.A.
        Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes.
        Nat Commun. 2019; 10: 4450

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