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Author: Joseph D Buxbaum

Rankings

  • All-time downloads: 68,368 (rank: 3,328 )
  • Categories:
    • animal behavior and cognition: 907 (rank: 1,814 (tie) )
    • bioinformatics: 1,497 (rank: 12,887 (tie) )
    • developmental biology: 1,507 (rank: 3,388 (tie) )
    • genetic and genomic medicine: 565 (rank: 8,638 (tie) )
    • genetics: 33,549 (rank: 208 )
    • genomics: 10,224 (rank: 2,269 )
    • immunology: 277 (rank: 37,448 (tie) )
    • neurology: 1,323 (rank: 1,535 (tie) )
    • neuroscience: 6,799 (rank: 3,463 )
    • pathology: 4,381 (rank: 332 (tie) )
    • psychiatry and clinical psychology: 3,564 (rank: 355 )

Downloads per author, site-wide

Preprints

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

genetics more details view paper
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    • Site-wide: 1,154
    • In genetics: 23
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    • Site-wide: 8,538

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 9,146 times
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    • Site-wide: 1,417
    • In genetics: 28
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New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,293 times
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    • Site-wide: 1,889
    • In genetics: 44
  • Year to date:
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EXCEPTIONALLY LOW LIKELIHOOD OF ALZHEIMER'S DEMENTIA IN APOE2 HOMOZYGOTES

pathology more details view paper
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Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

genetics more details view paper
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    • Site-wide: 7,562
    • In genetics: 351
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Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

genomics more details view paper
  • Downloaded 2,657 times
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    • Site-wide: 7,766
    • In genomics: 703
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Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

neurology more details view paper
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Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

genomics more details view paper
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    • In genomics: 980
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
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    • In genetics: 470
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Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

neuroscience more details view paper
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    • Site-wide: 16,532
    • In neuroscience: 1,669
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Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

genomics more details view paper
  • Downloaded 1,568 times
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    • Site-wide: 17,070
    • In genomics: 1,494
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    • Site-wide: 130,070
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,563 times
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    • Site-wide: 17,156
    • In genetics: 680
  • Year to date:
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,560 times
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    • Site-wide: 17,196
    • In genomics: 1,529
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    • Site-wide: 108,212
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FUN-LDA: A latent Dirichlet allocation model for predicting tissue-specific functional effects of noncoding variation

bioinformatics more details view paper
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    • Site-wide: 18,023
    • In bioinformatics: 1,850
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    • Site-wide: 149,778
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Behavioral phenotyping of an improved mouse model of Phelan-McDermid Syndrome with a complete deletion of the Shank3 gene

animal behavior and cognition more details view paper
  • Downloaded 933 times
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    • Site-wide: 37,681
    • In animal behavior and cognition: 298
  • Year to date:
    • Site-wide: 96,639
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PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways Across Biological Sex And Modes Of Trauma

neuroscience more details view paper
  • Downloaded 887 times
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    • Site-wide: 40,584
    • In neuroscience: 5,035
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    • Site-wide: 121,947
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Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes

genomics more details view paper
  • Downloaded 885 times
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    • Site-wide: 40,692
    • In genomics: 3,023
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Developmental and behavioral phenotypes in a new mouse model of DDX3X syndrome

neuroscience more details view paper
  • Downloaded 847 times
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    • Site-wide: 43,505
    • In neuroscience: 5,934
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Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups.

psychiatry and clinical psychology more details view paper
  • Downloaded 831 times
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    • Site-wide: 44,654
    • In psychiatry and clinical psychology: 176
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Genome-wide association study identifies new locus associated with OCD

psychiatry and clinical psychology more details view paper
  • Downloaded 811 times
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    • Site-wide: 46,329
    • In psychiatry and clinical psychology: 263
  • Year to date:
    • Site-wide: 8,855
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    • Site-wide: 8,983

Temporal proteomic profiling of postnatal human cortical development

neuroscience more details view paper
  • Downloaded 784 times
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    • Site-wide: 48,640
    • In neuroscience: 6,091
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    • Site-wide: 163,363

MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER

genomics more details view paper
  • Downloaded 725 times
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    • Site-wide: 54,483
    • In genomics: 3,756
  • Year to date:
    • Site-wide: 186,082
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    • Site-wide: 183,124

Dynamic landscape and genetic regulation of RNA editing in schizophrenia

neuroscience more details view paper
  • Downloaded 718 times
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    • Site-wide: 55,151
    • In neuroscience: 7,124
  • Year to date:
    • Site-wide: 173,698
  • Since beginning of last month:
    • Site-wide: 148,029

Effects of gene by microbiome interactions on behavioral and neurobiological phenotypes in a mouse model for autism spectrum disorder

neuroscience more details view paper
  • Downloaded 702 times
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    • Site-wide: 56,907
    • In neuroscience: 8,074
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    • Site-wide: 67,039
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    • Site-wide: 95,878

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

neuroscience more details view paper
  • Downloaded 702 times
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    • Site-wide: 56,927
    • In neuroscience: 7,458
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    • Site-wide: 149,062
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    • Site-wide: 145,764

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

genetics more details view paper
  • Downloaded 693 times
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    • Site-wide: 57,983
    • In genetics: 2,214
  • Year to date:
    • Site-wide: 170,800
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    • Site-wide: 174,446

Rare schizophrenia risk variant burden is conserved in diverse human populations

genetic and genomic medicine more details view paper
  • Downloaded 689 times
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    • Site-wide: 58,503
    • In genetic and genomic medicine: 642
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    • Site-wide: 3,042
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Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes

developmental biology more details view paper
  • Downloaded 623 times
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    • Site-wide: 66,816
    • In developmental biology: 1,489
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    • Site-wide: 130,346
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Identification of rare de novo epigenetic variations in congenital disorders

genomics more details view paper
  • Downloaded 558 times
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    • Site-wide: 76,839
    • In genomics: 4,893
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Episignatures stratifying ADNP syndrome show modest correlation with phenotype

developmental biology more details view paper
  • Downloaded 532 times
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    • Site-wide: 81,273
    • In developmental biology: 2,131
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StandardRat: A multi-center consensus protocol to enhance functional connectivity specificity in the rat brain

neuroscience more details view paper
  • Downloaded 532 times
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    • Site-wide: 81,250
    • In neuroscience: None
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Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan McDermid syndrome and autism

neuroscience more details view paper
  • Downloaded 522 times
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    • Site-wide: 83,177
    • In neuroscience: 11,377
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How rare and common risk variation jointly affect liability for autism spectrum disorder

psychiatry and clinical psychology more details view paper
  • Downloaded 521 times
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    • Site-wide: 83,507
    • In psychiatry and clinical psychology: 346
  • Year to date:
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Expansion of RNA sequence diversity and RNA editing rates throughout human cortical development

developmental biology more details view paper
  • Downloaded 480 times
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    • Site-wide: 91,560
    • In developmental biology: 2,523
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Maternal health around pregnancy and autism risk: a population-based study.

psychiatry and clinical psychology more details view paper
  • Downloaded 396 times
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    • Site-wide: 111,137
    • In psychiatry and clinical psychology: 501
  • Year to date:
    • Site-wide: 93,596
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Human TLR4 and noncanonical inflammasome differ in their ability to respond to distinct lipid A variants

immunology more details view paper
  • Downloaded 379 times
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    • Site-wide: 115,723
    • In immunology: 4,032
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    • Site-wide: 20,444
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The genetic architecture of obsessive-compulsive disorder: alleles across the frequency spectrum contribute liability to OCD

psychiatry and clinical psychology more details view paper
  • Downloaded 370 times
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    • Site-wide: 118,156
    • In psychiatry and clinical psychology: 550
  • Year to date:
    • Site-wide: 111,903
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Systematic Review and Meta-Analysis Identifies Significant Relationships Between Anxiety Disorders and Daytime Lower Urinary Tract Symptoms

psychiatry and clinical psychology more details view paper
  • Downloaded 285 times
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    • Site-wide: 142,518
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Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

genomics more details view paper
  • Downloaded 279 times
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    • Site-wide: 144,498
    • In genomics: 7,207
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Maternal psychiatric diagnosis and comorbidities around pregnancy

psychiatry and clinical psychology more details view paper
  • Downloaded 265 times
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    • Site-wide: 148,645
    • In psychiatry and clinical psychology: 847
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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.

neuroscience more details view paper
  • Downloaded 255 times
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    • Site-wide: 151,582
    • In neuroscience: 21,022
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    • Site-wide: 184,113
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Genome-wide Association Study identifies two novel loci for Gilles de la Tourette Syndrome

genetic and genomic medicine more details view paper
  • Downloaded 251 times
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    • Site-wide: 152,744
    • In genetic and genomic medicine: 1,030
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Genetic maternal effects contributes to the risk of Tourette's disorder

psychiatry and clinical psychology more details view paper
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    • In psychiatry and clinical psychology: 937
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Systematic Review and Meta-Analysis: Relationships Between Attention-Deficit/Hyperactivity Disorder and Daytime Urinary Symptoms in Children

psychiatry and clinical psychology more details view paper
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    • In psychiatry and clinical psychology: 936
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OCD symptom severity and comorbid psychiatric diagnoses in a Swedish genetic epidemiological obsessive-compulsive disorder cohort

psychiatry and clinical psychology more details view paper
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    • Site-wide: 172,006
    • In psychiatry and clinical psychology: 1,078
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Comorbidities in autism spectrum disorder and their etiologies

epidemiology more details view paper
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    • Site-wide: 174,629
    • In epidemiology: None
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