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Author: G. Gallone

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  • All-time downloads: 8,929 (rank: 9,876 (tie) out of 404,161)
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    • genetics: 7,879 (rank: 1,999 out of 36,792)
    • genomics: 1,050 (rank: 17,413 (tie) out of 42,763)

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Preprints

De novo mutations in regulatory elements cause neurodevelopmental disorders

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Quantifying the contribution of recessive coding variation to developmental disorders

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Common genetic variants contribute to risk of rare severe neurodevelopmental 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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TADA - a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs

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