Author: Bernie Devlin

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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: 1,215
  • In genetics: 24
• Year to date:
  • Site-wide: 13,918
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  • Site-wide: 12,156

Common risk variants identified in autism spectrum disorder

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  • Site-wide: 1,500
  • In genetics: 31
• Year to date:
  • Site-wide: 7,814
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  • Site-wide: 20,117

New mutations, old statistical challenges

• Downloaded 7,362 times
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  • Site-wide: 2,052
  • In genetics: 50
• Year to date:
  • Site-wide: 132,623
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  • Site-wide: 74,903

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

• Downloaded 2,825 times
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  • Site-wide: 7,945
  • In neurology: 24
• Year to date:
  • Site-wide: 12,689
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  • Site-wide: 12,714

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: 8,494
  • In genomics: 795
• Year to date:
  • Site-wide: 70,244
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  • Site-wide: 144,001

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

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  • Site-wide: 9,318
  • In genetics: 358
• Year to date:
  • Site-wide: 71,004
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  • Site-wide: 94,086

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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  • Site-wide: 11,963
  • In genomics: 1,085
• Year to date:
  • Site-wide: 94,902
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  • Site-wide: 91,667

Co-localization of Conditional eQTL and GWAS Signatures in Schizophrenia

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  • Site-wide: 14,058
  • In genetics: 553
• Year to date:
  • Site-wide: 70,980
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  • Site-wide: 198,324

Using multiple measurements of tissue to estimate subject- and cell-type-specific gene expression

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  • Site-wide: 15,619
  • In bioinformatics: 1,690
• Year to date:
  • Site-wide: 187,818
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  • Site-wide: 90,713

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

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  • Site-wide: 18,376
  • In neuroscience: 2,039
• Year to date:
  • Site-wide: 138,035
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  • Site-wide: 119,765

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

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  • Site-wide: 18,839
  • In genetics: 752
• Year to date:
  • Site-wide: 118,362
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  • Site-wide: 151,634

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

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  • Site-wide: 20,144
  • In genomics: 1,842
• Year to date:
  • Site-wide: 13,050
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  • Site-wide: 7,546

Semi-soft Clustering of Single Cell Data

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  • Site-wide: 21,699
  • In genetics: 876
• Year to date:
  • Site-wide: 189,591
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  • Site-wide: 117,132

Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development.

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  • Site-wide: 26,453
  • In genetics: 1,065
• Year to date:
  • Site-wide: 40,759
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  • Site-wide: 75,505

Transcriptomic Imputation of Bipolar Disorder and Bipolar subtypes reveals 29 novel associated genes

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  • Site-wide: 28,621
  • In genetics: 1,143
• Year to date:
  • Site-wide: 30,123
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  • Site-wide: 117,171

Cross-disorder GWAS meta-analysis for Attention Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Obsessive Compulsive Disorder, and Tourette Syndrome

• Downloaded 1,218 times
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  • Site-wide: 29,350
  • In genetics: 1,175
• Year to date:
  • Site-wide: 35,494
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  • Site-wide: 100,452

H-MAGMA, inheriting a shaky statistical foundation, yields excess false positives

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  • Site-wide: 30,521
  • In genetics: 1,217
• Year to date:
  • Site-wide: 122,929
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  • Site-wide: 45,730

Genome-wide association study identifies new locus associated with OCD

• Downloaded 1,096 times
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  • Site-wide: 34,613
  • In psychiatry and clinical psychology: 149
• Year to date:
  • Site-wide: 12,720
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  • Site-wide: 10,804

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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  • Site-wide: 39,888
  • In genetics: 1,579
• Year to date:
  • Site-wide: 119,177
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  • Site-wide: 141,309

A Unified Statistical Framework for Single Cell and Bulk RNA Sequencing Data

• Downloaded 859 times
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  • Site-wide: 50,386
  • In genetics: 1,947
• Year to date:
  • Site-wide: 190,869
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  • Site-wide: 94,347

A selective inference approach for FDR control using multi-omics covariates yields insights into disease risk

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  • Site-wide: 50,371
  • In genetics: 1,960
• Year to date:
  • Site-wide: 92,079
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  • Site-wide: 165,517

Bayesian estimation of cell-type-specific gene expression per bulk sample with prior derived from single-cell data

• Downloaded 780 times
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  • Site-wide: 58,152
  • In genomics: 4,091
• Year to date:
  • Site-wide: 122,719
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  • Site-wide: 103,149

Dynamic landscape and genetic regulation of RNA editing in schizophrenia

• Downloaded 762 times
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  • Site-wide: 60,321
  • In neuroscience: 8,268
• Year to date:
  • Site-wide: 169,082
• Since beginning of last month:
  • Site-wide: 51,740

Genome-Wide Association Identifies the First Risk Loci for Psychosis in Alzheimer Disease

• Downloaded 752 times
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  • Site-wide: 61,489
  • In psychiatry and clinical psychology: 276
• Year to date:
  • Site-wide: 125,514
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  • Site-wide: 103,802

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

• Downloaded 746 times
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  • Site-wide: 62,214
  • In genomics: 4,359
• Year to date:
  • Site-wide: 44,248
• Since beginning of last month:
  • Site-wide: 192,330

Sex differences in the human brain transcriptome of cases with schizophrenia

• Downloaded 678 times
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  • Site-wide: 71,238
  • In genomics: 4,957
• Year to date:
  • Site-wide: 66,340
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  • Site-wide: 20,391

Functional connectome fingerprinting accuracy in youths and adults is similar when examined on the same day and 1.5 years apart

• Downloaded 659 times
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  • Site-wide: 74,156
  • In neuroscience: 10,475
• Year to date:
  • Site-wide: 50,467
• Since beginning of last month:
  • Site-wide: 191,835

A method to exploit the structure of genetic ancestry space to enhance case-control studies

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  • Site-wide: 88,264
  • In genomics: 5,561
• Year to date:
  • Site-wide: 112,915
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  • Site-wide: 210,391

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

• Downloaded 563 times
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  • Site-wide: 90,748
  • In psychiatry and clinical psychology: 442
• Year to date:
  • Site-wide: 186,011
• Since beginning of last month:
  • Site-wide: 158,103

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

• Downloaded 540 times
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  • Site-wide: 95,385
  • In developmental biology: 2,501
• Year to date:
  • Site-wide: 34,427
• Since beginning of last month:
  • Site-wide: 97,689

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

• Downloaded 437 times
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  • Site-wide: 119,844
  • In psychiatry and clinical psychology: 674
• Year to date:
  • Site-wide: 47,585
• Since beginning of last month:
  • Site-wide: 40,641

Transcriptome alterations are enriched for synapse-associated genes in the striatum of subjects with obsessive-compulsive disorder

• Downloaded 346 times
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  • Site-wide: 145,999
  • In neuroscience: 21,290
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 191,024

An approach to gene-based testing accounting for dependence of tests among nearby genes

• Downloaded 307 times
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  • Site-wide: 157,699
  • In genetics: 5,838
• Year to date:
  • Site-wide: 110,104
• Since beginning of last month:
  • Site-wide: 132,599

Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

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  • Site-wide: 158,311
  • In genomics: 8,067
• Year to date:
  • Site-wide: 188,696
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  • Site-wide: 207,048

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

• Downloaded 273 times
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  • Site-wide: 168,117
  • In psychiatry and clinical psychology: 1,052
• Year to date:
  • Site-wide: 84,379
• Since beginning of last month:
  • Site-wide: 95,022