Author: Joseph D Buxbaum

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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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  • Site-wide: 1,154
  • In genetics: 23
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  • Site-wide: 13,088
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  • Site-wide: 8,538

Common risk variants identified in autism spectrum disorder

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  • Site-wide: 1,417
  • In genetics: 28
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  • Site-wide: 22,635

New mutations, old statistical challenges

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  • Site-wide: 1,889
  • In genetics: 44
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  • Site-wide: 117,671
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  • Site-wide: 146,556

EXCEPTIONALLY LOW LIKELIHOOD OF ALZHEIMER'S DEMENTIA IN APOE2 HOMOZYGOTES

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  • Site-wide: 3,736
  • In pathology: 22
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  • Site-wide: 52,801
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  • Site-wide: 88,146

Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

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  • Site-wide: 7,562
  • In genetics: 351
• Year to date:
  • Site-wide: 2,841
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  • Site-wide: 10,075

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

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  • Site-wide: 7,766
  • In genomics: 703
• Year to date:
  • Site-wide: 130,043
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  • Site-wide: 169,911

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

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  • Site-wide: 10,254
  • In neurology: 52
• Year to date:
  • Site-wide: 860
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  • Site-wide: 1,001

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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  • Site-wide: 10,991
  • In genomics: 980
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  • Site-wide: 125,577
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  • Site-wide: 112,226

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

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  • Site-wide: 12,499
  • In genetics: 470
• Year to date:
  • Site-wide: 153,544
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  • Site-wide: 115,147

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

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  • Site-wide: 16,532
  • In neuroscience: 1,669
• Year to date:
  • Site-wide: 133,736
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  • Site-wide: 162,527

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

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  • Site-wide: 17,070
  • In genomics: 1,494
• Year to date:
  • Site-wide: 130,070
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  • Site-wide: 169,875

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

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  • Site-wide: 17,156
  • In genetics: 680
• Year to date:
  • Site-wide: 164,726
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  • Site-wide: 170,132

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 17,196
  • In genomics: 1,529
• Year to date:
  • Site-wide: 108,212
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  • Site-wide: 112,183

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

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  • Site-wide: 18,023
  • In bioinformatics: 1,850
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  • Site-wide: 149,778
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  • Site-wide: 178,403

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

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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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  • Site-wide: 91,936

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

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  • Site-wide: 40,584
  • In neuroscience: 5,035
• Year to date:
  • Site-wide: 121,947
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  • Site-wide: 112,615

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

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  • Site-wide: 40,692
  • In genomics: 3,023
• Year to date:
  • Site-wide: 164,112
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  • Site-wide: 183,719

Developmental and behavioral phenotypes in a new mouse model of DDX3X syndrome

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  • Site-wide: 43,505
  • In neuroscience: 5,934
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  • Site-wide: 69,234
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  • Site-wide: 40,386

Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups.

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  • Site-wide: 44,654
  • In psychiatry and clinical psychology: 176
• Year to date:
  • Site-wide: 34,562
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  • Site-wide: 34,003

Genome-wide association study identifies new locus associated with OCD

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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

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  • Site-wide: 48,640
  • In neuroscience: 6,091
• Year to date:
  • Site-wide: 180,133
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  • Site-wide: 163,363

MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER

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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

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  • Site-wide: 55,151
  • In neuroscience: 7,124
• Year to date:
  • Site-wide: 173,698
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  • Site-wide: 148,029

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

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  • Site-wide: 56,907
  • In neuroscience: 8,074
• Year to date:
  • 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

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  • Site-wide: 56,927
  • In neuroscience: 7,458
• Year to date:
  • 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

• Downloaded 693 times
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  • Site-wide: 57,983
  • In genetics: 2,214
• Year to date:
  • Site-wide: 170,800
• Since beginning of last month:
  • Site-wide: 174,446

Rare schizophrenia risk variant burden is conserved in diverse human populations

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  • Site-wide: 58,503
  • In genetic and genomic medicine: 642
• Year to date:
  • Site-wide: 3,042
• Since beginning of last month:
  • Site-wide: 11,022

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

• Downloaded 623 times
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  • Site-wide: 66,816
  • In developmental biology: 1,489
• Year to date:
  • Site-wide: 130,346
• Since beginning of last month:
  • Site-wide: 140,810

Identification of rare de novo epigenetic variations in congenital disorders

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  • Site-wide: 76,839
  • In genomics: 4,893
• Year to date:
  • Site-wide: 154,349
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  • Site-wide: 116,831

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

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  • Site-wide: 81,273
  • In developmental biology: 2,131
• Year to date:
  • Site-wide: 38,955
• Since beginning of last month:
  • Site-wide: 53,587

StandardRat: A multi-center consensus protocol to enhance functional connectivity specificity in the rat brain

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  • Site-wide: 81,250
  • In neuroscience: None
• Year to date:
  • Site-wide: 4,485
• Since beginning of last month:
  • Site-wide: 1,172

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

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  • Site-wide: 83,177
  • In neuroscience: 11,377
• Year to date:
  • Site-wide: 141,610
• Since beginning of last month:
  • Site-wide: 168,072

How rare and common risk variation jointly affect liability for autism spectrum disorder

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  • Site-wide: 83,507
  • In psychiatry and clinical psychology: 346
• Year to date:
  • Site-wide: 87,653
• Since beginning of last month:
  • Site-wide: 68,612

Expansion of RNA sequence diversity and RNA editing rates throughout human cortical development

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  • Site-wide: 91,560
  • In developmental biology: 2,523
• Year to date:
  • Site-wide: 57,967
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  • Site-wide: 52,521

Maternal health around pregnancy and autism risk: a population-based study.

• Downloaded 396 times
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  • Site-wide: 111,137
  • In psychiatry and clinical psychology: 501
• Year to date:
  • Site-wide: 93,596
• Since beginning of last month:
  • Site-wide: 96,196

Human TLR4 and noncanonical inflammasome differ in their ability to respond to distinct lipid A variants

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  • Site-wide: 115,723
  • In immunology: 4,032
• Year to date:
  • Site-wide: 20,444
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  • Site-wide: 20,274

The genetic architecture of obsessive-compulsive disorder: alleles across the frequency spectrum contribute liability to OCD

• Downloaded 370 times
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  • Site-wide: 118,156
  • In psychiatry and clinical psychology: 550
• Year to date:
  • Site-wide: 111,903
• Since beginning of last month:
  • Site-wide: 123,353

Systematic Review and Meta-Analysis Identifies Significant Relationships Between Anxiety Disorders and Daytime Lower Urinary Tract Symptoms

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  • Site-wide: 142,518
  • In psychiatry and clinical psychology: 712
• Year to date:
  • Site-wide: 131,417
• Since beginning of last month:
  • Site-wide: 122,355

Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

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  • Site-wide: 144,498
  • In genomics: 7,207
• Year to date:
  • Site-wide: 185,355
• Since beginning of last month:
  • Site-wide: 187,165

Maternal psychiatric diagnosis and comorbidities around pregnancy

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  • Site-wide: 148,645
  • In psychiatry and clinical psychology: 847
• Year to date:
  • Site-wide: 77,404
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  • Site-wide: 38,500

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.

• Downloaded 255 times
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  • Site-wide: 151,582
  • In neuroscience: 21,022
• Year to date:
  • Site-wide: 184,113
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  • Site-wide: 167,377

Genome-wide Association Study identifies two novel loci for Gilles de la Tourette Syndrome

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  • Site-wide: 152,744
  • In genetic and genomic medicine: 1,030
• Year to date:
  • Site-wide: 26,554
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  • Site-wide: 59,355

Genetic maternal effects contributes to the risk of Tourette's disorder

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  • Site-wide: 161,167
  • In psychiatry and clinical psychology: 937
• Year to date:
  • Site-wide: 108,481
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  • Site-wide: 100,207

Systematic Review and Meta-Analysis: Relationships Between Attention-Deficit/Hyperactivity Disorder and Daytime Urinary Symptoms in Children

• Downloaded 213 times
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  • Site-wide: 163,206
  • In psychiatry and clinical psychology: 936
• Year to date:
  • Site-wide: 123,353
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  • Site-wide: 82,928

OCD symptom severity and comorbid psychiatric diagnoses in a Swedish genetic epidemiological obsessive-compulsive disorder cohort

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  • Site-wide: 172,006
  • In psychiatry and clinical psychology: 1,078
• Year to date:
  • Site-wide: 75,474
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  • Site-wide: 70,179

Comorbidities in autism spectrum disorder and their etiologies

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  • Site-wide: 174,629
  • In epidemiology: None
• Year to date:
  • Site-wide: 25,153
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  • Site-wide: 28,085