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Author: Guy A. Rouleau

Rankings

  • All-time downloads: 32,868 (rank: 6,343 )
  • Categories:
    • genetic and genomic medicine: 3,375 (rank: 1,144 )
    • genetics: 14,237 (rank: 1,117 )
    • genomics: 5,367 (rank: 5,062 )
    • neurology: 5,514 (rank: 319 )
    • neuroscience: 572 (rank: 49,957 (tie) )
    • psychiatry and clinical psychology: 3,803 (rank: 206 (tie) )

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Preprints

Genomewide association study identifies 30 loci associated with bipolar disorder

genetics more details view paper
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Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

psychiatry and clinical psychology more details view paper
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    • In psychiatry and clinical psychology: 20
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Human copy number variants are enriched in regions of low mappability

genomics more details view paper
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Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

neurology more details view paper
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

genetics more details view paper
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    • In genetics: 1,257
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Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

genetics more details view paper
  • Downloaded 923 times
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    • Site-wide: 32,063
    • In genetics: 1,408
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Polygenic scores for major depressive disorder and depressive symptoms predict response to lithium in patients with bipolar disorder

genomics more details view paper
  • Downloaded 893 times
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Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations

neurology more details view paper
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Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease

genetic and genomic medicine more details view paper
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    • In genetic and genomic medicine: 165
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Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

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    • In genetic and genomic medicine: 179
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High genetic loading for schizophrenia predicts poor response to lithium in patients with bipolar disorder: A polygenic score and cross-trait genetic analysis

genetics more details view paper
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    • Site-wide: 54,310
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Regional collapsing of rare variation implicates specific genic regions in ALS

genetics more details view paper
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    • In genetics: 2,608
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Characterization of human iPSC-derived astrocytes with potential for disease modeling and drug discovery

neuroscience more details view paper
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    • Site-wide: 62,103
    • In neuroscience: 8,927
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Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

genetics more details view paper
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    • In genetics: 2,678
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Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies

genetics more details view paper
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    • Site-wide: 65,270
    • In genetics: 2,776
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Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

neurology more details view paper
  • Downloaded 540 times
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    • Site-wide: 66,628
    • In neurology: 187
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    • Site-wide: 14,051
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Investigation of the pathogenic RFC1 repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations

genetics more details view paper
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A comprehensive analysis of dominant and recessive parkinsonism genes in REM sleep behavior disorder

neurology more details view paper
  • Downloaded 490 times
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    • Site-wide: 74,646
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Multi-tissue probabilistic fine-mapping of transcriptome-wide association study identifies cis-regulated genes for miserableness

genetics more details view paper
  • Downloaded 479 times
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    • Site-wide: 76,675
    • In genetics: 3,246
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GBA variants in REM sleep behavior disorder: a multicenter study

genetic and genomic medicine more details view paper
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    • In genetic and genomic medicine: 383
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    • Site-wide: 92,788
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Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease

neurology more details view paper
  • Downloaded 451 times
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    • Site-wide: 81,712
    • In neurology: 252
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    • Site-wide: 49,875
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Transcriptomic changes resulting from STK32B overexpression identifies pathways potentially relevant to essential tremor

genomics more details view paper
  • Downloaded 447 times
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    • Site-wide: 82,476
    • In genomics: 5,366
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SMPD1 variants do not have a major role in REM sleep behavior disorder

neurology more details view paper
  • Downloaded 438 times
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    • In neurology: 265
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Evidence for non-Mendelian inheritance in spastic paraplegia 7

genetic and genomic medicine more details view paper
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    • In genetic and genomic medicine: 439
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Genome-wide estimates of heritability and genetic correlations in Essential Tremor

genetics more details view paper
  • Downloaded 415 times
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    • In genetics: 3,718
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Analysis of common and rare VPS13C variants in late onset Parkinson disease

genetics more details view paper
  • Downloaded 397 times
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    • In genetics: 3,868
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Novel associations of BST1 and LAMP3 with rapid eye movement sleep behavior disorder

neurology more details view paper
  • Downloaded 368 times
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    • In neurology: 338
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Multi-omics integration of the phenome, transcriptome and genome highlights genes and pathways relevant to essential tremor

genomics more details view paper
  • Downloaded 365 times
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    • Site-wide: 100,161
    • In genomics: 6,046
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Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

genetics more details view paper
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    • Site-wide: 103,499
    • In genetics: 4,272
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Association of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's Disease

genetic and genomic medicine more details view paper
  • Downloaded 350 times
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    • Site-wide: 103,595
    • In genetic and genomic medicine: 562
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Characterization of Age and Polarity at Onset in Bipolar Disorder

psychiatry and clinical psychology more details view paper
  • Downloaded 343 times
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    • In psychiatry and clinical psychology: 466
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Exemplar Scoring Identifies Genetically Separable Phenotypes of Lithium Responsive Bipolar Disorder

psychiatry and clinical psychology more details view paper
  • Downloaded 339 times
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Increased expression of genetically-regulated FLT3 implicated in Tourette Syndrome

genetics more details view paper
  • Downloaded 295 times
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    • Site-wide: 117,562
    • In genetics: 4,793
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Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects

genetic and genomic medicine more details view paper
  • Downloaded 290 times
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    • Site-wide: 118,891
    • In genetic and genomic medicine: 673
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Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes

genomics more details view paper
  • Downloaded 286 times
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    • In genomics: 6,715
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GCH1 mutations in hereditary spastic paraplegia

neurology more details view paper
  • Downloaded 255 times
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    • Site-wide: 128,075
    • In neurology: 581
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    • Site-wide: 42,481
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Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease

neurology more details view paper
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Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder

neurology more details view paper
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RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation

genetic and genomic medicine more details view paper
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