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Author: Helen V Firth

Rankings

  • All-time downloads: 21,995 (rank: 6,016 out of 510,677)
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    • genetic and genomic medicine: 1,188 (rank: 850 (tie) out of 6,821)
    • genetics: 15,806 (rank: 833 out of 38,674)
    • genomics: 4,751 (rank: 4,386 (tie) out of 45,521)
    • neurology: 250 (rank: 2,402 (tie) out of 4,763)

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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

genetics more details view paper
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

genetics more details view paper
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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

genomics more details view paper
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Contribution of Retrotransposition to Developmental Disorders

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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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Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

neurology more details view paper
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InDelible: Detection and Evaluation of Clinically-relevant Structural Variation from Exome Sequencing

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