<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">McConnell, Michael J</style></author><author><style face="normal" font="default" size="100%">Lindberg, Michael R</style></author><author><style face="normal" font="default" size="100%">Brennand, Kristen J</style></author><author><style face="normal" font="default" size="100%">Piper, Julia C</style></author><author><style face="normal" font="default" size="100%">Voet, Thierry</style></author><author><style face="normal" font="default" size="100%">Cowing-Zitron, Chris</style></author><author><style face="normal" font="default" size="100%">Shumilina, Svetlana</style></author><author><style face="normal" font="default" size="100%">Lasken, Roger S</style></author><author><style face="normal" font="default" size="100%">Vermeesch, Joris R</style></author><author><style face="normal" font="default" size="100%">Hall, Ira M</style></author><author><style face="normal" font="default" size="100%">Gage, Fred H</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Mosaic copy number variation in human neurons.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Aneuploidy</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Copy Number Variations</style></keyword><keyword><style  face="normal" font="default" size="100%">Frontal Lobe</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Induced Pluripotent Stem Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mosaicism</style></keyword><keyword><style  face="normal" font="default" size="100%">Neural Stem Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurogenesis</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurons</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Deletion</style></keyword><keyword><style  face="normal" font="default" size="100%">Single-Cell Analysis</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2013</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2013 Nov 1</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24179226</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">342</style></volume><pages><style face="normal" font="default" size="100%">632-7</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;We used single-cell genomic approaches to map DNA copy number variation (CNV) in neurons obtained from human induced pluripotent stem cell (hiPSC) lines and postmortem human brains. We identified aneuploid neurons, as well as numerous subchromosomal CNVs in euploid neurons. Neurotypic hiPSC-derived neurons had larger CNVs than fibroblasts, and several large deletions were found in hiPSC-derived neurons but not in matched neural progenitor cells. Single-cell sequencing of endogenous human frontal cortex neurons revealed that 13 to 41% of neurons have at least one megabase-scale de novo CNV, that deletions are twice as common as duplications, and that a subset of neurons have highly aberrant genomes marked by multiple alterations. Our results show that mosaic CNV is abundant in human neurons.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">6158</style></issue><notes><style face="normal" font="default" size="100%">&lt;p&gt;http://www.sciencemag.org/content/342/6158/632.full&lt;/p&gt;
</style></notes><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/24179226?dopt=Abstract&lt;/p&gt;
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