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Author: Matthew E. Hurles

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    • genetic and genomic medicine: 1,188 (rank: 850 (tie) out of 6,821)
    • genetics: 24,214 (rank: 270 out of 38,674)
    • genomics: 11,027 (rank: 1,442 out of 45,521)
    • immunology: 1,378 (rank: 4,591 (tie) out of 27,749)

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Preprints

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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Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

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Striking differences in patterns of germline mutation between mice and humans

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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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Population Structure, Stratification and Introgression of Human Structural Variation

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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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The epigenomic landscape regulating organogenesis in human embryos linked to developmental disorders

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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

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

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