<?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%">Khayat, Michael M</style></author><author><style face="normal" font="default" size="100%">Li, He</style></author><author><style face="normal" font="default" size="100%">Chander, Varuna</style></author><author><style face="normal" font="default" size="100%">Hu, Jianhong</style></author><author><style face="normal" font="default" size="100%">Hansen, Adam W</style></author><author><style face="normal" font="default" size="100%">Li, Shoudong</style></author><author><style face="normal" font="default" size="100%">Traynelis, Josh</style></author><author><style face="normal" font="default" size="100%">Shen, Hua</style></author><author><style face="normal" font="default" size="100%">Weissenberger, George</style></author><author><style face="normal" font="default" size="100%">Stossi, Fabio</style></author><author><style face="normal" font="default" size="100%">Johnson, Hannah L</style></author><author><style face="normal" font="default" size="100%">Lupski, James R</style></author><author><style face="normal" font="default" size="100%">Posey, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Sabo, Aniko</style></author><author><style face="normal" font="default" size="100%">Meng, Qingchang</style></author><author><style face="normal" font="default" size="100%">Murdock, David R</style></author><author><style face="normal" font="default" size="100%">Wangler, Michael</style></author><author><style face="normal" font="default" size="100%">Gibbs, Richard A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Mutat</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hum Mutat</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2021 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">42</style></volume><pages><style face="normal" font="default" size="100%">577-591</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present in early infancy with hypotonia and developmental delay and later exhibit intellectual disability (ID). The overall presentation is variable, however, and the emerging clinical picture is still evolving. A detailed phenotypic analysis of 34 XGS individuals revealed five core phenotypes (delayed motor milestones, speech delay, low muscle tone, ID, and hypotonia) in more than 80% of individuals and an additional 12 features that occurred more variably. Seizures and scoliosis were more frequently associated with truncations that arise before the midpoint of the protein although the occurrence of most features could not be predicted by the mutation position. Transient expression of wild type and different patient truncated AHDC1 protein forms in human cell lines revealed abnormal patterns of nuclear localization including a diffuse distribution of a short truncated form and nucleolar aggregation in mid-protein truncated forms. Overall, both the occurrence of variable phenotypes and the different distribution of the expressed protein reflect the heterogeneity of this syndrome.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/33644933?dopt=Abstract</style></custom1></record><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%">Chiang, Theodore</style></author><author><style face="normal" font="default" size="100%">Liu, Xiuping</style></author><author><style face="normal" font="default" size="100%">Wu, Tsung-Jung</style></author><author><style face="normal" font="default" size="100%">Hu, Jianhong</style></author><author><style face="normal" font="default" size="100%">Sedlazeck, Fritz J</style></author><author><style face="normal" font="default" size="100%">White, Simon</style></author><author><style face="normal" font="default" size="100%">Schaid, Daniel</style></author><author><style face="normal" font="default" size="100%">Andrade, Mariza de</style></author><author><style face="normal" font="default" size="100%">Jarvik, Gail P</style></author><author><style face="normal" font="default" size="100%">Crosslin, David</style></author><author><style face="normal" font="default" size="100%">Stanaway, Ian</style></author><author><style face="normal" font="default" size="100%">Carrell, David S</style></author><author><style face="normal" font="default" size="100%">Connolly, John J</style></author><author><style face="normal" font="default" size="100%">Hakonarson, Hakon</style></author><author><style face="normal" font="default" size="100%">Groopman, Emily E</style></author><author><style face="normal" font="default" size="100%">Gharavi, Ali G</style></author><author><style face="normal" font="default" size="100%">Fedotov, Alexander</style></author><author><style face="normal" font="default" size="100%">Bi, Weimin</style></author><author><style face="normal" font="default" size="100%">Leduc, Magalie S</style></author><author><style face="normal" font="default" size="100%">Murdock, David R</style></author><author><style face="normal" font="default" size="100%">Jiang, Yunyun</style></author><author><style face="normal" font="default" size="100%">Meng, Linyan</style></author><author><style face="normal" font="default" size="100%">Eng, Christine M</style></author><author><style face="normal" font="default" size="100%">Wen, Shu</style></author><author><style face="normal" font="default" size="100%">Yang, Yaping</style></author><author><style face="normal" font="default" size="100%">Muzny, Donna M</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Salerno, William</style></author><author><style face="normal" font="default" size="100%">Venner, Eric</style></author><author><style face="normal" font="default" size="100%">Gibbs, Richard A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.</style></title><secondary-title><style face="normal" font="default" size="100%">Genet Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genet. Med.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2019 Sep</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">21</style></volume><pages><style face="normal" font="default" size="100%">2135-2144</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;PURPOSE: &lt;/b&gt;To provide a validated method to confidently identify exon-containing copy-number variants (CNVs), with a low false discovery rate (FDR), in targeted sequencing data from a clinical laboratory with particular focus on single-exon CNVs.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;DNA sequence coverage data are normalized within each sample and subsequently exonic CNVs are identified in a batch of samples, when the target log ratio of the sample to the batch median exceeds defined thresholds. The quality of exonic CNV calls is assessed by C-scores (Z-like scores) using thresholds derived from gold standard samples and simulation studies. We integrate an ExonQC threshold to lower FDR and compare performance with alternate software (VisCap).&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Thirteen CNVs were used as a truth set to validate Atlas-CNV and compared with VisCap. We demonstrated FDR reduction in validation, simulation, and 10,926 eMERGESeq samples without sensitivity loss. Sixty-four multiexon and 29 single-exon CNVs with high C-scores were assessed by Multiplex Ligation-dependent Probe Amplification (MLPA).&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;Atlas-CNV is validated as a method to identify exonic CNVs in targeted sequencing data generated in the clinical laboratory. The ExonQC and C-score assignment can reduce FDR (identification of targets with high variance) and improve calling accuracy of single-exon CNVs respectively. We propose guidelines and criteria to identify high confidence single-exon CNVs.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">9</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/30890783?dopt=Abstract</style></custom1></record><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%">Jiang, Yunyun</style></author><author><style face="normal" font="default" size="100%">Wangler, Michael F</style></author><author><style face="normal" font="default" size="100%">McGuire, Amy L</style></author><author><style face="normal" font="default" size="100%">Lupski, James R</style></author><author><style face="normal" font="default" size="100%">Posey, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Khayat, Michael M</style></author><author><style face="normal" font="default" size="100%">Murdock, David R</style></author><author><style face="normal" font="default" size="100%">Sanchez-Pulido, Luis</style></author><author><style face="normal" font="default" size="100%">Ponting, Chris P</style></author><author><style face="normal" font="default" size="100%">Xia, Fan</style></author><author><style face="normal" font="default" size="100%">Hunter, Jill V</style></author><author><style face="normal" font="default" size="100%">Meng, Qingchang</style></author><author><style face="normal" font="default" size="100%">Murugan, Mullai</style></author><author><style face="normal" font="default" size="100%">Gibbs, Richard A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">The phenotypic spectrum of Xia-Gibbs syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Med Genet A</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Med. Genet. A</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 06</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">176</style></volume><pages><style face="normal" font="default" size="100%">1315-1326</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Xia-Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of approximately 60 probands. Additional de novo truncating mutations were observed among 25 individuals, extending both the known number of mutation sites and the range of positions within the coding region that were sensitive to alteration. Detailed phenotypic examination of 20 of these patients via clinical records review and data collection from additional surveys showed a wider age range than previously described. Data from developmental milestones showed evidence for delayed speech and that males were more severely affected. Neuroimaging from six available patients showed an associated thinning of the corpus callosum and posterior fossa cysts. An increased risk of both scoliosis and seizures relative to the population burden was also observed. Data from a modified autism screening tool revealed that XGS shares significant overlap with autism spectrum disorders. These details of the phenotypic heterogeneity of XGS implicate specific genotype/phenotype correlations and suggest potential clinical management guidelines.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29696776?dopt=Abstract</style></custom1></record></records></xml>