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Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts
2022-12-31
genetic and genomic medicine
Title + abstract only
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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 other disorders suspected to be of genetic etiology. Although CMA has significantly increased the diag...
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