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Analytical and Clinical Validity Study of FirstStep <sup>Dx</sup> PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions

2016-10-26

Abstract excerpt

<h4>Introduction</h4> Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiology. <h4>Array Design</h4> To optimize detection of clinically relevant copy number variants associated with these conditions, we designed a whole-genome micro...

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Literature Corpus work
3d2a139c-c25b-5d59-860d-92ccf6bc9f25
DOI
10.1101/083741
Open publication

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Analytical and Clinical Validity Study of FirstStep <sup>Dx</sup> PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental ConditionsDOI 10.1101/083741
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