Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay-Reference-Cited by-同舟云学术

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Published:2016-07-01 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Uddin Mohammed,Pellecchia Giovanna,Thiruvahindrapuram Bhooma,D’Abate Lia,Merico Daniele,Chan Ada,Zarrei Mehdi,Tammimies Kristiina,Walker Susan,Gazzellone Matthew J.,Nalpathamkalam Thomas,Yuen Ryan K. C.,Devriendt Koenraad,Mathonnet Géraldine,Lemyre Emmanuelle,Nizard Sonia,Shago Mary,Joseph-George Ann M.,Noor Abdul,Carter Melissa T.,Yoon Grace,Kannu Peter,Tihy Frédérique,Thorland Erik C.,Marshall Christian R.,Buchanan Janet A.,Speevak Marsha,Stavropoulos Dimitri J.,Scherer Stephen W.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep28663.pdf

Reference70 articles.

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2. Michelson, D. J. et al. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 77, 1629–1635, doi: 10.1212/WNL.0b013e3182345896 (2011).

3. Miller, D. T. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86, 749–764, doi: 10.1016/j.ajhg.2010.04.006 (2010).

4. Buchanan, J. A. & Scherer, S. W. Contemplating effects of genomic structural variation. Genetics in Medicine: Official Journal of the American College of Medical Genetics 10, 639–647, doi: 10.1097GIM.0b013e318183f848 (2008).

5. Oskoui, M. et al. Clinically relevant copy number variations detected in cerebral palsy. Nature Communications 6, 7949, doi: 10.1038/ncomms8949 (2015).

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