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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 College of Medicine and Health, RILD Building, Royal Devon & Exeter Hospital

Rankings

  • All-time downloads: 22,804 (rank: 2,032 out of 365,768)
  • Categories:
    • genetics: 19,237 (rank: 397 out of 34,196)
    • genomics: 3,567 (rank: 5,251 out of 39,335)

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Preprints

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

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

genomics more details view paper
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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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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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