Author: Pamela Sklar

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Preprints

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

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

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Genomewide association study identifies 30 loci associated with bipolar disorder

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

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Comparative genetic architectures of schizophrenia in East Asian and European populations

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

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Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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

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  • Site-wide: 10,558
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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  • Site-wide: 10,603
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Co-localization of Conditional eQTL and GWAS Signatures in Schizophrenia

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

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 115,970
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  • Site-wide: 105,692

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

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  • Site-wide: 121,575
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  • Site-wide: 115,689

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

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  • Site-wide: 112,626
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Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

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

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  • Site-wide: 25,526
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Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

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  • Site-wide: 31,421
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• Year to date:
  • Site-wide: 105,357
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Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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

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  • Site-wide: 39,019
  • In genetic and genomic medicine: 171
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Dynamic landscape and genetic regulation of RNA editing in schizophrenia

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

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  • Site-wide: 48,698
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  • Site-wide: 154,184
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  • Site-wide: 156,601

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

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

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  • Site-wide: 60,648
  • In genetics: 2,619
• Year to date:
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Characterization of single gene copy number variants in schizophrenia

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  • Site-wide: 70,262
  • In genetics: 3,025
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Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records

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  • Site-wide: 91,839
  • In genetics: 3,890
• Year to date:
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  • Site-wide: 157,303