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Author: Caroline F Wright

Rankings

  • All-time downloads: 29,312 (rank: 5,756 )
  • Categories:
    • evolutionary biology: 144 (rank: 23,711 (tie) )
    • genetic and genomic medicine: 1,821 (rank: 1,576 (tie) )
    • genetics: 21,671 (rank: 436 )
    • genomics: 5,676 (rank: 4,117 )

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Preprints

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

genetics more details view paper
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    • In genetics: 36
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    • Site-wide: 21,277

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

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  • Downloaded 4,041 times
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    • Site-wide: 2,929
    • In genomics: 317
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    • Site-wide: 11,014
  • Since beginning of last month:
    • Site-wide: 20,194

Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing

genetics more details view paper
  • Downloaded 3,417 times
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    • Site-wide: 3,734
    • In genetics: 143
  • Year to date:
    • Site-wide: 11,547
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    • Site-wide: 25,219

De novo mutations in regulatory elements cause neurodevelopmental disorders

genetics more details view paper
  • Downloaded 2,133 times
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    • Site-wide: 7,401
    • In genetics: 339
  • Year to date:
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

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  • Downloaded 1,920 times
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    • Site-wide: 8,629
    • In genetics: 382
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Quantifying the contribution of recessive coding variation to developmental disorders

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  • Downloaded 1,904 times
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    • Site-wide: 8,736
    • In genetics: 389
  • Year to date:
    • Site-wide: 83,011
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Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting

genetics more details view paper
  • Downloaded 1,859 times
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    • Site-wide: 9,055
    • In genetics: 410
  • Year to date:
    • Site-wide: 62,665
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Pathogenicity and selective constraint on variation near splice sites

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  • Downloaded 1,552 times
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    • Site-wide: 11,809
    • In genetics: 553
  • Year to date:
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    • Site-wide: 73,161

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

genomics more details view paper
  • Downloaded 1,183 times
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    • Site-wide: 17,758
    • In genomics: 1,792
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Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 889 times
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    • Site-wide: 26,907
    • In genetic and genomic medicine: 95
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    • Site-wide: 14,088
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    • Site-wide: 8,725

Using structural analysis in silico to assess the impact of missense variants in MEN1

genetics more details view paper
  • Downloaded 680 times
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    • Site-wide: 39,046
    • In genetics: 1,807
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The contribution of X-linked coding variation to severe developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 658 times
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    • Site-wide: 40,757
    • In genetic and genomic medicine: 143
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    • Site-wide: 42,251
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VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

genetics more details view paper
  • Downloaded 526 times
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    • Site-wide: 53,643
    • In genetics: 2,440
  • Year to date:
    • Site-wide: 98,397
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    • Site-wide: 110,089

Assessing performance of pathogenicity predictors using clinically-relevant variant datasets

genomics more details view paper
  • Downloaded 452 times
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    • Site-wide: 63,463
    • In genomics: 4,564
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    • Site-wide: 69,592
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Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 274 times
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    • Site-wide: 97,143
    • In genetic and genomic medicine: 421
  • Year to date:
    • Site-wide: 69,152
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    • Site-wide: None

Mutagenesis Mapping of RNA Structures within the Foot-and-Mouth Disease Virus Genome Reveals Functional Elements Localised in the Polymerase (3Dpol) Encoding Region.

evolutionary biology more details view paper
  • Downloaded 144 times
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    • Site-wide: 127,078
    • In evolutionary biology: 6,397
  • Year to date:
    • Site-wide: 30,528
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    • Site-wide: 64,858

Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders

genetics more details view paper
  • Downloaded 136 times
  • Download rankings, all-time:
    • Site-wide: 128,678
    • In genetics: 5,340
  • Year to date:
    • Site-wide: 120,666
  • Since beginning of last month:
    • Site-wide: 113,016

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