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Author: Giuseppe Gallone

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  • All-time downloads: 11,398 (rank: 6,004 (tie) out of 365,768)
  • Categories:
    • genetics: 7,625 (rank: 1,966 out of 34,184)
    • genomics: 3,773 (rank: 4,951 (tie) out of 39,335)

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Preprints

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

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    • Site-wide: 1,308 out of 85,018
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    • Site-wide: 2,218 out of 85,018

De novo mutations in regulatory elements cause neurodevelopmental disorders

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    • Site-wide: 67,357 out of 85,018

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

genetics more details view paper
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    • Site-wide: 38,216 out of 85,018

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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    • Site-wide: 10,521 out of 85,018
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    • Site-wide: 28,107 out of 85,018

Contribution of Retrotransposition to Developmental Disorders

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    • Site-wide: 31,347 out of 85,018

Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease

genomics more details view paper
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    • Site-wide: 29,639 out of 85,018
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