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Author: Helen V. Firth

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  • All-time downloads: 18,502 (rank: 2,883 out of 365,768)
  • Categories:
    • genetics: 15,228 (rank: 699 out of 34,196)
    • genomics: 3,274 (rank: 5,689 (tie) 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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Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

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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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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

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Contribution of Retrotransposition to Developmental Disorders

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

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    • Site-wide: 66,657 out of 85,018

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