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Author: Matthew E Hurles

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  • All-time downloads: 32,458 (rank: 1,198 out of 365,768)
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    • genetics: 22,183 (rank: 293 out of 34,196)
    • genomics: 9,148 (rank: 1,527 (tie) out of 39,335)
    • immunology: 1,127 (rank: 2,921 (tie) out of 19,090)

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Preprints

Sex-biased reduction in reproductive success drives selective constraint on human genes

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

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New mutations, old statistical challenges

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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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Striking differences in patterns of germline mutation between mice and humans

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Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals

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

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Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

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Detection of structural mosaicism from targeted and whole-genome sequencing data

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Population Structure, Stratification and Introgression of Human Structural Variation

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Contribution of Retrotransposition to Developmental Disorders

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The epigenomic landscape regulating organogenesis in human embryos linked 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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