Article

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA-sequencing

2019-10-08

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Neurodevelopmental phenotypes represent major indications for children undergoing clinical exome sequencing. However, 50% of cases remain undiagnosed even upon exome reanalysis. Here we show RNA sequencing (RNA-seq) on human B lymphoblastoid cell lines (LCL) is highly suitable for neurodevelopmental Mendelian gene testing and demonstrate the utility of this approach in suspected...

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Literature Corpus work: 72912d1d-375b-53ab-88f9-adcea7f771e4
DOI: 10.1101/19008300

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