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Author: Joseph D. Buxbaum

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    • animal behavior and cognition: 601 (rank: 1,194 (tie) out of 4,555)
    • bioinformatics: 1,256 (rank: 7,584 (tie) out of 28,801)
    • developmental biology: 439 (rank: 5,759 (tie) out of 12,990)
    • genetics: 25,113 (rank: 199 out of 32,440)
    • genomics: 8,672 (rank: 1,465 out of 36,879)
    • neuroscience: 3,911 (rank: 2,626 out of 56,529)

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Preprints

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

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New mutations, old statistical challenges

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Common risk variants identified in autism spectrum disorder

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Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

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Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

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Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

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FUN-LDA: A latent Dirichlet allocation model for predicting tissue-specific functional effects of noncoding variation

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PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways Across Biological Sex And Modes Of Trauma

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MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER

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Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes

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Behavioral phenotyping of an improved mouse model of Phelan-McDermid Syndrome with a complete deletion of the Shank3 gene

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Temporal proteomic profiling of postnatal human cortical development

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Dynamic landscape and genetic regulation of RNA editing in schizophrenia

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Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

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Disruption of the KH1 domain of Fmr1 leads to transcriptional alterations and attentional deficits in rats

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Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes

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Identification of rare de novo epigenetic variations in congenital disorders

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Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan McDermid syndrome and autism

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Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

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Reduced axonal caliber and white matter changes in a rat model of Fragile X syndrome with a deletion of a K Homology domain of Fmr1.

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