Author: Giuseppe Gallone

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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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  • Site-wide: 7,254
  • In genetics: 356
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  • Site-wide: 73,895

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

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  • Site-wide: 7,261
  • In genetics: 357
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  • Site-wide: 65,955
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  • Site-wide: 55,953

Pathogenicity and selective constraint on variation near splice sites

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  • Site-wide: 10,192
  • In genetics: 511
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  • Site-wide: 75,578
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  • Site-wide: 62,573

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

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  • Site-wide: 15,254
  • In genomics: 1,657
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  • Site-wide: 36,546
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  • Site-wide: 49,632

Contribution of Retrotransposition to Developmental Disorders

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  • Site-wide: 26,651
  • In genetics: 1,348
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  • Site-wide: 116,886
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  • Site-wide: 66,100

The contribution of X-linked coding variation to severe developmental disorders

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  • Site-wide: 40,593
  • In genetic and genomic medicine: 104
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  • Site-wide: 27,741
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  • Site-wide: 20,873

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

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  • Site-wide: 92,193
  • In genetic and genomic medicine: 301
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  • Site-wide: 26,483

TADA - a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs

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  • In genetics: 4,516
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