Article

Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts

2022-12-31

Abstract excerpt

<h4>ABSTRACT</h4> Several medical societies including the American College of Medical Genetics and Genomics, the American Academy of Neurology, and the Association of Molecular Pathology recommend chromosomal microarray (CMA) as the first-tier test in the genetic work-up for individuals with neurodevelopmental disorders such as developmental delay and intellectual disability, autism spectrum disorder, as well as o...

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Literature Corpus work: c752987f-cc7c-5758-b077-66d5cb52987a
DOI: 10.1101/2022.12.26.22283900

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