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: 271
  • In genomics: 10
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  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 61,826

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

• Downloaded 10,697 times
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  • Site-wide: 622
  • In genetics: 18
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  • Site-wide: None
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  • Site-wide: 14,442

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

• Downloaded 9,323 times
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  • Site-wide: 739
  • In genetics: 24
• Year to date:
  • Site-wide: 11,761
• Since beginning of last month:
  • Site-wide: 17,363

Common risk variants identified in autism spectrum disorder

• Downloaded 7,242 times
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  • Site-wide: 1,043
  • In genetics: 37
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  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 15,878

Genomewide association study identifies 30 loci associated with bipolar disorder

• Downloaded 7,200 times
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  • Site-wide: 1,052
  • In genetics: 38
• Year to date:
  • Site-wide: 17,423
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  • Site-wide: 16,443

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

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  • Site-wide: 1,630
  • In genetics: 63
• Year to date:
  • Site-wide: 6,451
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  • Site-wide: 26,620

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

• Downloaded 5,152 times
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  • Site-wide: 1,633
  • In genetics: 65
• Year to date:
  • Site-wide: 10,635
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  • Site-wide: 9,487

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

• Downloaded 5,110 times
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  • Site-wide: 1,649
  • In genetics: 66
• Year to date:
  • Site-wide: 6,271
• Since beginning of last month:
  • Site-wide: 14,157

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

• Downloaded 4,573 times
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  • Site-wide: 1,925
  • In genomics: 218
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  • Site-wide: None
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  • Site-wide: 34,077

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

• Downloaded 4,463 times
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  • Site-wide: 1,991
  • In genetics: 80
• Year to date:
  • Site-wide: 17,270
• Since beginning of last month:
  • Site-wide: 9,962

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

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  • Site-wide: 2,021
  • In genetics: 82
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  • Site-wide: None
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  • Site-wide: 98,986

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

• Downloaded 4,005 times
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  • Site-wide: 2,319
  • In genomics: 282
• Year to date:
  • Site-wide: 4,770
• Since beginning of last month:
  • Site-wide: 19,626

Genetic Identification Of Brain Cell Types Underlying Schizophrenia

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  • Site-wide: 2,741
  • In genomics: 338
• Year to date:
  • Site-wide: 27,218
• Since beginning of last month:
  • Site-wide: 53,861

Psychiatric Genomics: An Update and an Agenda

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  • Site-wide: 3,070
  • In genetics: 133
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  • Site-wide: None
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  • Site-wide: 91,873

Integrative approaches for large-scale transcriptome-wide association studies

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  • Site-wide: 3,815
  • In genetics: 185
• Year to date:
  • Site-wide: 18,576
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  • Site-wide: 29,750

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

• Downloaded 2,552 times
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  • Site-wide: 4,472
  • In genomics: 537
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  • Site-wide: None
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  • Site-wide: 104,057

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

• Downloaded 2,544 times
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  • Site-wide: 4,498
  • In genetics: 221
• Year to date:
  • Site-wide: 62,440
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  • Site-wide: 51,560

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

• Downloaded 2,380 times
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  • Site-wide: 4,970
  • In genetic and genomic medicine: 12
• Year to date:
  • Site-wide: 684
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  • Site-wide: 1,013

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

• Downloaded 2,369 times
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  • Site-wide: 5,008
  • In genetics: 244
• Year to date:
  • Site-wide: 4,785
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  • Site-wide: 10,504

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

• Downloaded 2,284 times
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  • Site-wide: 5,293
  • In genetics: 266
• Year to date:
  • Site-wide: 70,825
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  • Site-wide: 72,337

Comparative genetic architectures of schizophrenia in East Asian and European populations

• Downloaded 2,182 times
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  • Site-wide: 5,654
  • In genetics: 284
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 57,630

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

• Downloaded 2,176 times
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  • Site-wide: 5,686
  • In genetics: 288
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  • Site-wide: None
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  • Site-wide: 67,768

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

• Downloaded 1,971 times
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  • Site-wide: 6,561
  • In genetics: 332
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 39,200

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

• Downloaded 1,957 times
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  • Site-wide: 6,627
  • In genomics: 764
• Year to date:
  • Site-wide: 56,763
• Since beginning of last month:
  • Site-wide: 34,872

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

• Downloaded 1,924 times
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  • Site-wide: 6,804
  • In genomics: 779
• Year to date:
  • Site-wide: 11,307
• Since beginning of last month:
  • Site-wide: 31,351

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

• Downloaded 1,721 times
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  • Site-wide: 8,008
  • In genetics: 405
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 105,015

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,431 times
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  • Site-wide: 10,582
  • In genomics: 1,214
• Year to date:
  • Site-wide: 40,318
• Since beginning of last month:
  • Site-wide: 82,102

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

• Downloaded 1,431 times
• Download rankings, all-time:
  • Site-wide: 10,579
  • In genomics: 1,215
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 113,076

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

• Downloaded 1,359 times
• Download rankings, all-time:
  • Site-wide: 11,474
  • In genetics: 600
• Year to date:
  • Site-wide: 73,467
• Since beginning of last month:
  • Site-wide: 14,929

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

• Downloaded 1,319 times
• Download rankings, all-time:
  • Site-wide: 11,995
  • In psychiatry and clinical psychology: 35
• Year to date:
  • Site-wide: 2,440
• Since beginning of last month:
  • Site-wide: 1,852

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

• Downloaded 1,178 times
• Download rankings, all-time:
  • Site-wide: 14,208
  • In genetics: 744
• Year to date:
  • Site-wide: 62,068
• Since beginning of last month:
  • Site-wide: 48,447

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

• Downloaded 1,149 times
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  • Site-wide: 14,751
  • In genomics: 1,610
• Year to date:
  • Site-wide: 40,919
• Since beginning of last month:
  • Site-wide: 61,918

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

• Downloaded 1,106 times
• Download rankings, all-time:
  • Site-wide: 15,618
  • In genetics: 816
• Year to date:
  • Site-wide: 38,005
• Since beginning of last month:
  • Site-wide: 65,683

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

• Downloaded 1,011 times
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  • Site-wide: 17,873
  • In genomics: 1,891
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 89,526

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

• Downloaded 1,007 times
• Download rankings, all-time:
  • Site-wide: 17,987
  • In genetics: 924
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 91,690

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

• Downloaded 995 times
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  • Site-wide: 18,337
  • In genomics: 1,926
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 101,538

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

• Downloaded 843 times
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  • Site-wide: 23,291
  • In genomics: 2,306
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 107,803

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 816 times
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  • Site-wide: 24,382
  • In genetics: 1,234
• Year to date:
  • Site-wide: 16,639
• Since beginning of last month:
  • Site-wide: 31,840

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

• Downloaded 740 times
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  • Site-wide: 27,949
  • In genetics: 1,423
• Year to date:
  • Site-wide: 54,535
• Since beginning of last month:
  • Site-wide: 54,997

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

• Downloaded 719 times
• Download rankings, all-time:
  • Site-wide: 29,058
  • In genomics: 2,694
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 103,134

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

• Downloaded 702 times
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  • Site-wide: 30,063
  • In genetics: 1,527
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 109,214

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

• Downloaded 680 times
• Download rankings, all-time:
  • Site-wide: 31,403
  • In genetics: 1,585
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 97,941

Proof of concept: Molecular prediction of schizophrenia risk

• Downloaded 624 times
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  • Site-wide: 35,108
  • In genomics: 3,079
• Year to date:
  • Site-wide: 63,681
• Since beginning of last month:
  • Site-wide: 95,912

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

• Downloaded 611 times
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  • Site-wide: 36,052
  • In genetics: 1,801
• Year to date:
  • Site-wide: None
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  • Site-wide: 19,138

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

• Downloaded 563 times
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  • Site-wide: 39,903
  • In genomics: 3,356
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  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 62,063

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

• Downloaded 560 times
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  • Site-wide: 40,236
  • In genetics: 1,984
• Year to date:
  • Site-wide: 18,781
• Since beginning of last month:
  • Site-wide: 61,581

Characterization of single gene copy number variants in schizophrenia

• Downloaded 447 times
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  • Site-wide: 52,278
  • In genetics: 2,547
• Year to date:
  • Site-wide: 71,241
• Since beginning of last month:
  • Site-wide: 98,741

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

• Downloaded 431 times
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  • Site-wide: 54,358
  • In genomics: 4,172
• Year to date:
  • Site-wide: 52,314
• Since beginning of last month:
  • Site-wide: 51,825

Genetic variation in the Major Histocompatibility Complex and association with depression

• Downloaded 407 times
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  • Site-wide: 57,667
  • In genetics: 2,803
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 109,286

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

• Downloaded 319 times
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  • Site-wide: 71,864
  • In bioinformatics: 6,797
• Year to date:
  • Site-wide: 43,890
• Since beginning of last month:
  • Site-wide: 110,673

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

• Downloaded 311 times
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  • Site-wide: 73,373
  • In genomics: 5,003
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  • Site-wide: None
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  • Site-wide: 105,379

Labile carbon limits late winter microbial activity near Arctic treeline

• Downloaded 118 times
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  • Site-wide: 111,582
  • In ecology: 4,105
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  • Site-wide: None
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  • Site-wide: None