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Author: Caroline F Wright

  • ORCiD: http://orcid.org/0000-0003-2958-5076
  • Most recently observed institution: Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital

Rankings

  • All-time downloads: 26,814 (rank: 4,503 out of 510,011)
  • Categories:
    • genetic and genomic medicine: 1,188 (rank: 850 (tie) out of 6,821)
    • genetics: 20,495 (rank: 419 out of 38,674)
    • genomics: 5,131 (rank: 4,043 out of 45,520)

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Preprints

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

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

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

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De novo mutations in regulatory elements cause neurodevelopmental disorders

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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

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Quantifying the contribution of recessive coding variation to developmental disorders

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Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting

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Pathogenicity and selective constraint on variation near splice sites

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

genomics more details view paper
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Using structural analysis in silico to assess the impact of missense variants in MEN1

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The contribution of X-linked coding variation to severe developmental disorders

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Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

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VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

genetics more details view paper
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Assessing performance of pathogenicity predictors using clinically-relevant variant datasets

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InDelible: Detection and Evaluation of Clinically-relevant Structural Variation from Exome Sequencing

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

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