Author: Patrick F Sullivan

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

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  • Site-wide: 293
  • In genomics: 11
• Year to date:
  • Site-wide: 49,464
• Since beginning of last month:
  • Site-wide: None

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

• Downloaded 10,915 times
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  • Site-wide: 667
  • In genetics: 18
• Year to date:
  • Site-wide: 5,759
• Since beginning of last month:
  • Site-wide: 4,685

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

• Downloaded 9,364 times
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  • Site-wide: 818
  • In genetics: 25
• Year to date:
  • Site-wide: 23,229
• Since beginning of last month:
  • Site-wide: 26,057

Common risk variants identified in autism spectrum disorder

• Downloaded 7,739 times
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  • Site-wide: 1,049
  • In genetics: 34
• Year to date:
  • Site-wide: 2,016
• Since beginning of last month:
  • Site-wide: 1,977

Genomewide association study identifies 30 loci associated with bipolar disorder

• Downloaded 7,266 times
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  • Site-wide: 1,135
  • In genetics: 38
• Year to date:
  • Site-wide: 16,215
• Since beginning of last month:
  • Site-wide: 14,334

Genome-wide Analysis of Insomnia (N=1,331,010) Identifies Novel Loci and Functional Pathways

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  • Site-wide: 1,763
  • In genetics: 64
• Year to date:
  • Site-wide: 19,793
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  • Site-wide: 28,465

Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

• Downloaded 5,186 times
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  • Site-wide: 1,769
  • In genetics: 66
• Year to date:
  • Site-wide: 24,435
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  • Site-wide: 31,458

GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

• Downloaded 5,134 times
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  • Site-wide: 1,792
  • In genetics: 68
• Year to date:
  • Site-wide: 26,715
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  • Site-wide: None

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.

• Downloaded 4,718 times
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  • Site-wide: 2,023
  • In genomics: 215
• Year to date:
  • Site-wide: 10,572
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  • Site-wide: 9,582

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

• Downloaded 4,504 times
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  • Site-wide: 2,160
  • In genetics: 83
• Year to date:
  • Site-wide: 25,034
• Since beginning of last month:
  • Site-wide: 19,067

Regulatory variants explain much more heritability than coding variants across 11 common diseases

• Downloaded 4,452 times
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  • Site-wide: 2,204
  • In genetics: 87
• Year to date:
  • Site-wide: 74,605
• Since beginning of last month:
  • Site-wide: 57,928

Genetic Identification of Cell Types Underlying Brain Complex Traits Yields Novel Insights Into the Etiology of Parkinson’s Disease

• Downloaded 4,103 times
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  • Site-wide: 2,452
  • In genomics: 283
• Year to date:
  • Site-wide: 8,683
• Since beginning of last month:
  • Site-wide: 6,941

Genetic Identification Of Brain Cell Types Underlying Schizophrenia

• Downloaded 3,585 times
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  • Site-wide: 3,006
  • In genomics: 352
• Year to date:
  • Site-wide: 70,412
• Since beginning of last month:
  • Site-wide: 57,728

Psychiatric Genomics: An Update and an Agenda

• Downloaded 3,345 times
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  • Site-wide: 3,321
  • In genetics: 134
• Year to date:
  • Site-wide: 61,258
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  • Site-wide: 64,079

Integrative approaches for large-scale transcriptome-wide association studies

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  • Site-wide: 4,076
  • In genetics: 186
• Year to date:
  • Site-wide: 31,831
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  • Site-wide: 32,807

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

• Downloaded 2,861 times
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  • Site-wide: 4,114
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 972
• Since beginning of last month:
  • Site-wide: 1,052

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

• Downloaded 2,565 times
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  • Site-wide: 4,843
  • In genomics: 565
• Year to date:
  • Site-wide: 99,074
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  • Site-wide: 71,170

Genome-wide association study of depression phenotypes in UK Biobank (n = 322,580) identifies the enrichment of variants in excitatory synaptic pathways

• Downloaded 2,559 times
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  • Site-wide: 4,857
  • In genetics: 225
• Year to date:
  • Site-wide: 71,175
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  • Site-wide: None

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

• Downloaded 2,436 times
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  • Site-wide: 5,244
  • In genetics: 246
• Year to date:
  • Site-wide: 12,222
• Since beginning of last month:
  • Site-wide: 15,399

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

• Downloaded 2,294 times
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  • Site-wide: 5,726
  • In genetics: 274
• Year to date:
  • Site-wide: 95,818
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  • Site-wide: 64,199

Comparative genetic architectures of schizophrenia in East Asian and European populations

• Downloaded 2,263 times
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  • Site-wide: 5,841
  • In genetics: 281
• Year to date:
  • Site-wide: 23,182
• Since beginning of last month:
  • Site-wide: 23,550

GWAS Meta-Analysis of Neuroticism (N=449,484) Identifies Novel Genetic Loci and Pathways

• Downloaded 2,218 times
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  • Site-wide: 6,007
  • In genetics: 290
• Year to date:
  • Site-wide: 43,940
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  • Site-wide: 42,602

Using three-dimensional regulatory chromatin interactions from adult and fetal cortex to interpret genetic results for psychiatric disorders and cognitive traits

• Downloaded 2,175 times
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  • Site-wide: 6,165
  • In genetics: 303
• Year to date:
  • Site-wide: 7,152
• Since beginning of last month:
  • Site-wide: 5,901

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

• Downloaded 1,973 times
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  • Site-wide: 7,101
  • In genomics: 790
• Year to date:
  • Site-wide: 66,105
• Since beginning of last month:
  • Site-wide: 41,105

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

• Downloaded 1,955 times
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  • Site-wide: 7,209
  • In genomics: 804
• Year to date:
  • Site-wide: 27,737
• Since beginning of last month:
  • Site-wide: 23,039

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

• Downloaded 1,779 times
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  • Site-wide: 8,317
  • In genetics: 405
• Year to date:
  • Site-wide: 31,706
• Since beginning of last month:
  • Site-wide: 26,061

Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights

• Downloaded 1,557 times
• Download rankings, all-time:
  • Site-wide: 10,163
  • In psychiatry and clinical psychology: 32
• Year to date:
  • Site-wide: 2,764
• Since beginning of last month:
  • Site-wide: 3,435

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

• Downloaded 1,449 times
• Download rankings, all-time:
  • Site-wide: 11,284
  • In genomics: 1,256
• Year to date:
  • Site-wide: 85,829
• Since beginning of last month:
  • Site-wide: None

Conditional GWAS analysis identifies putative disorder-specific SNPs for psychiatric disorders

• Downloaded 1,447 times
• Download rankings, all-time:
  • Site-wide: 11,312
  • In genetics: 561
• Year to date:
  • Site-wide: 13,709
• Since beginning of last month:
  • Site-wide: 8,303

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,447 times
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  • Site-wide: 11,309
  • In genomics: 1,258
• Year to date:
  • Site-wide: 60,929
• Since beginning of last month:
  • Site-wide: 57,717

Genetic stratification of depression in UK Biobank suggests a subgroup linked to age of natural menopause

• Downloaded 1,199 times
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  • Site-wide: 15,026
  • In genetics: 771
• Year to date:
  • Site-wide: 55,672
• Since beginning of last month:
  • Site-wide: 41,264

Evaluation Of Chromatin Accessibility In Prefrontal Cortex Of Schizophrenia Cases And Controls

• Downloaded 1,158 times
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  • Site-wide: 15,849
  • In genomics: 1,681
• Year to date:
  • Site-wide: 83,042
• Since beginning of last month:
  • Site-wide: 57,729

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

• Downloaded 1,117 times
• Download rankings, all-time:
  • Site-wide: 16,750
  • In genetics: 846
• Year to date:
  • Site-wide: 75,433
• Since beginning of last month:
  • Site-wide: 57,847

Functional consequences of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals

• Downloaded 1,024 times
• Download rankings, all-time:
  • Site-wide: 19,056
  • In genomics: 1,956
• Year to date:
  • Site-wide: 92,463
• Since beginning of last month:
  • Site-wide: None

Building a schizophrenia genetic network: Transcription Factor 4 regulates genes involved in neuronal development and schizophrenia risk.

• Downloaded 1,019 times
• Download rankings, all-time:
  • Site-wide: 19,181
  • In genetics: 954
• Year to date:
  • Site-wide: 105,139
• Since beginning of last month:
  • Site-wide: 88,920

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

• Downloaded 1,015 times
• Download rankings, all-time:
  • Site-wide: 19,301
  • In genomics: 1,979
• Year to date:
  • Site-wide: 75,334
• Since beginning of last month:
  • Site-wide: 71,569

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

• Downloaded 893 times
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  • Site-wide: 23,215
  • In genetics: 1,150
• Year to date:
  • Site-wide: 3,545
• Since beginning of last month:
  • Site-wide: 2,711

Functional partitioning of local and distal gene expression regulation in multiple human tissues

• Downloaded 853 times
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  • Site-wide: 24,782
  • In genomics: 2,391
• Year to date:
  • Site-wide: 118,782
• Since beginning of last month:
  • Site-wide: 101,683

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 825 times
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  • Site-wide: 25,934
  • In genetics: 1,287
• Year to date:
  • Site-wide: 62,702
• Since beginning of last month:
  • Site-wide: 63,834

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

• Downloaded 756 times
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  • Site-wide: 29,287
  • In genomics: 2,683
• Year to date:
  • Site-wide: 44,787
• Since beginning of last month:
  • Site-wide: 51,821

Reproducible Risk Loci and Psychiatric Comorbidities in Anxiety: Results from ~200,000 Million Veteran Program Participants

• Downloaded 747 times
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  • Site-wide: 29,808
  • In genetics: 1,473
• Year to date:
  • Site-wide: 99,948
• Since beginning of last month:
  • Site-wide: None

Evidence of causal effect of major depression on alcohol dependence: Findings from the Psychiatric Genomics Consortium

• Downloaded 711 times
• Download rankings, all-time:
  • Site-wide: 31,911
  • In genetics: 1,589
• Year to date:
  • Site-wide: 104,864
• Since beginning of last month:
  • Site-wide: 89,472

Genome-wide Association Study of Clinical Features in the Schizophrenia Psychiatric Genomics Consortium: Confirmation of Polygenic Effect on Negative Symptoms

• Downloaded 702 times
• Download rankings, all-time:
  • Site-wide: 32,436
  • In genetics: 1,612
• Year to date:
  • Site-wide: 61,876
• Since beginning of last month:
  • Site-wide: 41,738

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

• Downloaded 633 times
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  • Site-wide: 37,236
  • In genetics: 1,814
• Year to date:
  • Site-wide: 14,888
• Since beginning of last month:
  • Site-wide: 6,395

Proof of concept: Molecular prediction of schizophrenia risk

• Downloaded 632 times
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  • Site-wide: 37,356
  • In genomics: 3,210
• Year to date:
  • Site-wide: 99,491
• Since beginning of last month:
  • Site-wide: 89,588

Large-scale analysis of DNA methylation identifies cellular alterations in blood from psychosis patients and molecular biomarkers of treatment-resistant schizophrenia.

• Downloaded 627 times
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  • Site-wide: 37,691
  • In genomics: 3,224
• Year to date:
  • Site-wide: 25,495
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  • Site-wide: 21,705

Schizophrenia is characterized by age- and sex-specific effects on epigenetic aging

• Downloaded 525 times
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  • Site-wide: 46,955
  • In genomics: 3,792
• Year to date:
  • Site-wide: 12,387
• Since beginning of last month:
  • Site-wide: 4,387

Characterization of single gene copy number variants in schizophrenia

• Downloaded 457 times
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  • Site-wide: 55,026
  • In genetics: 2,607
• Year to date:
  • Site-wide: 94,305
• Since beginning of last month:
  • Site-wide: 59,618

Genetic variation in the Major Histocompatibility Complex and association with depression

• Downloaded 420 times
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  • Site-wide: 60,114
  • In genetics: 2,848
• Year to date:
  • Site-wide: 118,046
• Since beginning of last month:
  • Site-wide: 90,521

Association Tests Using Copy Number Profile Curves (CONCUR) Enhances Power in Rare Copy Number Variant Analysis

• Downloaded 324 times
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  • Site-wide: 75,981
  • In bioinformatics: 7,067
• Year to date:
  • Site-wide: 105,967
• Since beginning of last month:
  • Site-wide: 104,949

mTADA: a framework for analyzing de novo mutations in multiple traits

• Downloaded 323 times
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  • Site-wide: 76,229
  • In genomics: 5,121
• Year to date:
  • Site-wide: 92,071
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  • Site-wide: 72,482

Labile carbon limits late winter microbial activity near Arctic treeline

• Downloaded 138 times
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  • Site-wide: 114,486
  • In ecology: 4,131
• Year to date:
  • Site-wide: 89,671
• Since beginning of last month:
  • Site-wide: 98,093