<?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%">Yuen, Ryan K C</style></author><author><style face="normal" font="default" size="100%">Thiruvahindrapuram, Bhooma</style></author><author><style face="normal" font="default" size="100%">Merico, Daniele</style></author><author><style face="normal" font="default" size="100%">Walker, Susan</style></author><author><style face="normal" font="default" size="100%">Tammimies, Kristiina</style></author><author><style face="normal" font="default" size="100%">Hoang, Ny</style></author><author><style face="normal" font="default" size="100%">Chrysler, Christina</style></author><author><style face="normal" font="default" size="100%">Nalpathamkalam, Thomas</style></author><author><style face="normal" font="default" size="100%">Pellecchia, Giovanna</style></author><author><style face="normal" font="default" size="100%">Liu, Yi</style></author><author><style face="normal" font="default" size="100%">Gazzellone, Matthew J</style></author><author><style face="normal" font="default" size="100%">D&#039;Abate, Lia</style></author><author><style face="normal" font="default" size="100%">Deneault, Eric</style></author><author><style face="normal" font="default" size="100%">Howe, Jennifer L</style></author><author><style face="normal" font="default" size="100%">Liu, Richard S C</style></author><author><style face="normal" font="default" size="100%">Thompson, Ann</style></author><author><style face="normal" font="default" size="100%">Zarrei, Mehdi</style></author><author><style face="normal" font="default" size="100%">Uddin, Mohammed</style></author><author><style face="normal" font="default" size="100%">Marshall, Christian R</style></author><author><style face="normal" font="default" size="100%">Ring, Robert H</style></author><author><style face="normal" font="default" size="100%">Zwaigenbaum, Lonnie</style></author><author><style face="normal" font="default" size="100%">Ray, Peter N</style></author><author><style face="normal" font="default" size="100%">Weksberg, Rosanna</style></author><author><style face="normal" font="default" size="100%">Carter, Melissa T</style></author><author><style face="normal" font="default" size="100%">Fernandez, Bridget A</style></author><author><style face="normal" font="default" size="100%">Roberts, Wendy</style></author><author><style face="normal" font="default" size="100%">Szatmari, Peter</style></author><author><style face="normal" font="default" size="100%">Scherer, Stephen W</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Whole-genome sequencing of quartet families with autism spectrum disorder.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat. Med.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child Development Disorders, Pervasive</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Parents</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Siblings</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Feb</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25621899</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">21</style></volume><pages><style face="normal" font="default" size="100%">185-91</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of susceptibility loci. Previous microarray and exome-sequencing studies have examined portions of the genome in simplex families (parents and one ASD-affected child) having presumed sporadic forms of the disorder. We used whole-genome sequencing (WGS) of 85 quartet families (parents and two ASD-affected siblings), consisting of 170 individuals with ASD, to generate a comprehensive data resource encompassing all classes of genetic variation (including noncoding variants) and accompanying phenotypes, in apparently familial forms of ASD. By examining de novo and rare inherited single-nucleotide and structural variations in genes previously reported to be associated with ASD or other neurodevelopmental disorders, we found that some (69.4%) of the affected siblings carried different ASD-relevant mutations. These siblings with discordant mutations tended to demonstrate more clinical variability than those who shared a risk variant. Our study emphasizes that substantial genetic heterogeneity exists in ASD, necessitating the use of WGS to delineate all genic and non-genic susceptibility variants in research and in clinical diagnostics.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><notes><style face="normal" font="default" size="100%">http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.3792.html</style></notes><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25621899?dopt=Abstract</style></custom1></record></records></xml>