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Author: Elliott Rees

Rankings

  • All-time downloads: 17,372 (rank: 10,296 )
  • Categories:
    • genetic and genomic medicine: 3,749 (rank: 258 (tie) )
    • genetics: 6,781 (rank: 2,941 )
    • genomics: 4,883 (rank: 4,796 )
    • neuroscience: 1,959 (rank: 11,169 (tie) )

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Preprints

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington's disease

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

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Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection

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Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank

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

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Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disorders

genetics 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
  • Downloaded 964 times
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Genetic association study of psychotic experiences in UK Biobank

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Synaptic protein DLG2 controls neurogenic transcriptional programs disrupted in schizophrenia and related disorders

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Association between schizophrenia and both loss of function and missense mutations in paralog conserved sites of voltage-gated sodium channels

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Analyses of rare and common alleles in parent-proband trios implicate rare missense variants in SLC6A1 in schizophrenia and confirm the involvement of loss of function intolerant and neurodevelopmental disorder genes.

genetics more details view paper
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Genetic association of FMRP targets with psychiatric disorders

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    • In neuroscience: 6,746
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Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

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  • Downloaded 540 times
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    • In genetics: 2,276
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Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank

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    • In neuroscience: 7,257
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Effects of pathogenic CNVs on physical traits in participants of the UK Biobank

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Characterization of single gene copy number variants in schizophrenia

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The role of rare copy number variants in depression

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Meta-analysis of Scandinavian Schizophrenia Exomes

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  • Downloaded 447 times
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    • Site-wide: 60,173
    • In genetics: 2,786
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Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white matter structures

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  • Downloaded 409 times
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    • Site-wide: 65,907
    • In neuroscience: 9,972
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Effects of pathogenic CNVs on biochemical markers: a study on the UK Biobank

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  • Downloaded 297 times
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    • In genomics: 5,494
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A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder

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  • Downloaded 239 times
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    • In genetic and genomic medicine: 404
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