Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2015 May 26;313(20):2029-30.
doi: 10.1001/jama.2015.4846.

Cognitive phenotypes and genomic copy number variations

Affiliations
Editorial

Cognitive phenotypes and genomic copy number variations

James R Lupski. JAMA. .
No abstract available

PubMed Disclaimer

Comment on

  • Copy number variations and cognitive phenotypes in unselected populations.
    Männik K, Mägi R, Macé A, Cole B, Guyatt AL, Shihab HA, Maillard AM, Alavere H, Kolk A, Reigo A, Mihailov E, Leitsalu L, Ferreira AM, Nõukas M, Teumer A, Salvi E, Cusi D, McGue M, Iacono WG, Gaunt TR, Beckmann JS, Jacquemont S, Kutalik Z, Pankratz N, Timpson N, Metspalu A, Reymond A. Männik K, et al. JAMA. 2015 May 26;313(20):2044-54. doi: 10.1001/jama.2015.4845. JAMA. 2015. PMID: 26010633 Free PMC article.

References

    1. Männik K, Mägi R, Macé A, et al. Copy number variations and cognitive phenotypes in unselected populations. JAMA. doi:10.1001/jama.2015.4845. - PMC - PubMed
    1. Lupski JR. Structural variation mutagenesis of the human genome. Environ Mol Mutagen. 2015 doi:10.1002/em.21943. - PMC - PubMed
    1. South ST, Lee C, Lamb AN, Higgins AW, Kearney HM. Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med. 2013;15(11):901–909. - PubMed
    1. [May 5, 2015];DECIPHER web page. https://decipher.sanger.ac.uk/index.
    1. Wu N, Ming X, Xiao J, et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015;372(4):341–350. - PMC - PubMed