Article

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

2021-07-24

Abstract excerpt

<h4>ABSTRACT</h4> This single center study aims to determine the time, diagnostic procedure and cost saving potential of early exome sequencing in a cohort of 111 individuals with genetically confirmed neurodevelopmental disorders. We retrospectively collected data regarding diagnostic time points and procedures from the individuals’ medical histories and developed criteria for classifying diagnostic procedures in...

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Literature Corpus work: e6131b16-28ab-556d-b8b3-b0ec823758b1
DOI: 10.1101/2021.07.23.21258974

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Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disordersDOI 10.1101/2021.07.23.21258974Read

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