American College of Medical Genetics standards and guidelines for interpretation and reporting of po...
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
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Author / Creator
A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee , Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee , Kearney, Hutton M. , Thorland, Erik C. , Brown, Kerry K. , Quintero-Rivera, Fabiola and South, Sarah T.
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York: Elsevier Inc
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Scope and Contents
Contents
Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, bo...
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Full title
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
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TN_cdi_proquest_miscellaneous_954667676
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_954667676
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1097/GIM.0b013e3182217a3a
