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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Common risk variants identified in autism spectrum disorder

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  • In genetics: 32
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New mutations, old statistical challenges

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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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  • Site-wide: 5,257
  • In genomics: 591
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  • Site-wide: 97,739

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

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  • Site-wide: 5,799
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• Year to date:
  • Site-wide: 91,026
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Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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  • Site-wide: 7,586
  • In genomics: 827
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Co-localization of Conditional eQTL and GWAS Signatures in Schizophrenia

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

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  • Site-wide: 10,221
  • In bioinformatics: 1,235
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Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

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  • In neuroscience: 1,297
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  • Site-wide: 92,178

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

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Semi-soft Clustering of Single Cell Data

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

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  • Site-wide: 17,600
  • In genetics: 861
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  • Site-wide: 84,328
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  • Site-wide: 72,589

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

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Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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

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  • Site-wide: 27,359
  • In genetics: 1,326
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Cross-disorder GWAS meta-analysis for Attention Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Obsessive Compulsive Disorder, and Tourette Syndrome

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  • Site-wide: 31,075
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A Unified Statistical Framework for Single Cell and Bulk RNA Sequencing Data

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  • Site-wide: 32,221
  • In genetics: 1,560
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  • Site-wide: 110,928
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  • Site-wide: 114,942

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

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  • In genomics: 2,956
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Dynamic landscape and genetic regulation of RNA editing in schizophrenia

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  • Site-wide: 40,153
  • In neuroscience: 5,708
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  • Site-wide: 94,601
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  • Site-wide: 72,973

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

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  • Site-wide: 41,849
  • In genetics: 1,984
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  • Site-wide: 71,574
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  • Site-wide: 59,674

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

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  • Site-wide: 44,703
  • In genomics: 3,600
• Year to date:
  • Site-wide: 14,199
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  • Site-wide: 27,521

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

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  • Site-wide: 50,010
  • In neuroscience: 7,353
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  • Site-wide: 103,230

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

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  • Site-wide: 52,873
  • In genomics: 4,083
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A method to exploit the structure of genetic ancestry space to enhance case-control studies

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  • Site-wide: 53,173
  • In genomics: 4,109
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  • Site-wide: 107,229
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  • Site-wide: 91,237

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

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  • Site-wide: 72,804
  • In psychiatry and clinical psychology: 231
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  • Site-wide: 7,002

Sex differences in the human brain transcriptome of cases with schizophrenia

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  • Site-wide: 87,085
  • In genomics: 5,539
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  • Site-wide: 24,084

Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

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  • Site-wide: 98,042
  • In genomics: 5,926
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  • Site-wide: 120,107
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  • Site-wide: 114,196

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

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  • Site-wide: 101,516
  • In neuroscience: 15,763
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  • Site-wide: 64,669
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  • Site-wide: 64,174

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

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  • Site-wide: 111,286
  • In psychiatry and clinical psychology: 462
• Year to date:
  • Site-wide: 26,224
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  • Site-wide: 22,552

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

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  • Site-wide: 115,463
  • In psychiatry and clinical psychology: 497
• Year to date:
  • Site-wide: 14,616
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  • Site-wide: 15,352

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

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  • Site-wide: 130,924
  • In psychiatry and clinical psychology: 683
• Year to date:
  • Site-wide: 76,420
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  • Site-wide: 56,711