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Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

2023-10-19 genetic and genomic medicine Title + abstract only
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ObjectiveWe sought to evaluate outcomes for clinical management following a genetic diagnosis from the Deciphering Developmental Disorders (DDD) Study. DesignIndividuals in the DDD study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion (n=5010). Clinical notes from regional clinical genetics services notes were reviewed to assess pre-defined clinical outcomes relating to interventions, prenatal choices, and information provision. ResultsOutco...

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