Author: Giuseppe Gallone

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

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