Author: Pamela Sklar

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Preprints

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

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  • Site-wide: 486
  • In genomics: 16
• Year to date:
  • Site-wide: 40,573
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  • Site-wide: None

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

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  • Site-wide: 988
  • In genetics: 18
• Year to date:
  • Site-wide: 8,233
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  • Site-wide: 9,884

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

• Downloaded 8,350 times
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  • Site-wide: 1,658
  • In genetic and genomic medicine: 9
• Year to date:
  • Site-wide: 815
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  • Site-wide: None

Genomewide association study identifies 30 loci associated with bipolar disorder

• Downloaded 7,654 times
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  • Site-wide: 1,853
  • In genetics: 42
• Year to date:
  • Site-wide: 61,705
• Since beginning of last month:
  • Site-wide: 22,965

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 8,943
  • In genetics: 347
• Year to date:
  • Site-wide: 88,272
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  • Site-wide: 77,775

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

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  • Site-wide: 9,352
  • In genetics: 362
• Year to date:
  • Site-wide: 137,979
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  • Site-wide: None

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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  • Site-wide: 11,495
  • In genomics: 1,049
• Year to date:
  • Site-wide: 129,497
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  • Site-wide: 170,608

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

• Downloaded 1,952 times
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  • Site-wide: 13,013
  • In genetics: 504
• Year to date:
  • Site-wide: 138,105
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  • Site-wide: 130,668

Integrative analyses of splicing in the aging brain: role in susceptibility to Alzheimer's Disease

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  • Site-wide: 13,161
  • In genomics: 1,199
• Year to date:
  • Site-wide: 156,969
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  • Site-wide: None

Co-localization of Conditional eQTL and GWAS Signatures in Schizophrenia

• Downloaded 1,912 times
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  • Site-wide: 13,433
  • In genetics: 530
• Year to date:
  • Site-wide: 68,866
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  • Site-wide: 100,537

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 17,923
  • In genomics: 1,618
• Year to date:
  • Site-wide: 110,577
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  • Site-wide: 57,379

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

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  • Site-wide: 18,069
  • In genomics: 1,617
• Year to date:
  • Site-wide: 154,020
• Since beginning of last month:
  • Site-wide: 165,482

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

• Downloaded 1,273 times
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  • Site-wide: 25,320
  • In genomics: 2,178
• Year to date:
  • Site-wide: 157,516
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  • Site-wide: 132,778

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

• Downloaded 1,268 times
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  • Site-wide: 25,450
  • In genetics: 1,026
• Year to date:
  • Site-wide: 108,525
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  • Site-wide: 37,570

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

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  • Site-wide: 28,324
  • In genetics: 1,140
• Year to date:
  • Site-wide: 82,127
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  • Site-wide: None

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

• Downloaded 1,132 times
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  • Site-wide: 30,385
  • In genomics: 2,528
• Year to date:
  • Site-wide: 187,528
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  • Site-wide: 132,302

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 964 times
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  • Site-wide: 38,867
  • In genetics: 1,547
• Year to date:
  • Site-wide: 138,125
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  • Site-wide: None

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

• Downloaded 958 times
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  • Site-wide: 39,248
  • In genetics: 1,579
• Year to date:
  • Site-wide: 172,554
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  • Site-wide: 127,957

Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

• Downloaded 905 times
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  • Site-wide: 42,658
  • In genetic and genomic medicine: 249
• Year to date:
  • Site-wide: 105,491
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  • Site-wide: None

Rare schizophrenia risk variant burden is conserved in diverse human populations

• Downloaded 821 times
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  • Site-wide: 49,499
  • In genetic and genomic medicine: 315
• Year to date:
  • Site-wide: 3,777
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  • Site-wide: 9,625

Dynamic landscape and genetic regulation of RNA editing in schizophrenia

• Downloaded 731 times
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  • Site-wide: 58,518
  • In neuroscience: 8,031
• Year to date:
  • Site-wide: 179,700
• Since beginning of last month:
  • Site-wide: 156,860

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

• Downloaded 717 times
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  • Site-wide: 60,248
  • In genetics: 2,363
• Year to date:
  • Site-wide: 150,126
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  • Site-wide: 97,469

Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with signatures from post mortem adult brains

• Downloaded 678 times
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  • Site-wide: 65,196
  • In genetics: 2,524
• Year to date:
  • Site-wide: 198,600
• Since beginning of last month:
  • Site-wide: 164,643

Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

• Downloaded 575 times
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  • Site-wide: 80,694
  • In genetics: 3,121
• Year to date:
  • Site-wide: 194,491
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  • Site-wide: 59,209

Characterization of single gene copy number variants in schizophrenia

• Downloaded 523 times
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  • Site-wide: 90,650
  • In genetics: 3,469
• Year to date:
  • Site-wide: 191,535
• Since beginning of last month:
  • Site-wide: 169,660

Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records

• Downloaded 390 times
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  • Site-wide: 122,213
  • In genetics: 4,610
• Year to date:
  • Site-wide: 201,200
• Since beginning of last month:
  • Site-wide: 164,661