<?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%">Salgado, David</style></author><author><style face="normal" font="default" size="100%">Armean, Irina M.</style></author><author><style face="normal" font="default" size="100%">Baudis, Michael</style></author><author><style face="normal" font="default" size="100%">Beltran, Sergi</style></author><author><style face="normal" font="default" size="100%">Capella-Gutíerrez, Salvador</style></author><author><style face="normal" font="default" size="100%">Carvalho-Silva, Denise</style></author><author><style face="normal" font="default" size="100%">Dominguez Del Angel, Victoria</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Furlong, Laura I.</style></author><author><style face="normal" font="default" size="100%">Gao, Bo</style></author><author><style face="normal" font="default" size="100%">Garcia, Leyla</style></author><author><style face="normal" font="default" size="100%">Gerloff, Dietlind</style></author><author><style face="normal" font="default" size="100%">Gut, Ivo</style></author><author><style face="normal" font="default" size="100%">Gyenesei, Attila</style></author><author><style face="normal" font="default" size="100%">Habermann, Nina</style></author><author><style face="normal" font="default" size="100%">Hancock, John M.</style></author><author><style face="normal" font="default" size="100%">Hanauer, Marc</style></author><author><style face="normal" font="default" size="100%">Hovig, Eivind</style></author><author><style face="normal" font="default" size="100%">Johansson, Lennart F.</style></author><author><style face="normal" font="default" size="100%">Keane, Thomas</style></author><author><style face="normal" font="default" size="100%">Korbel, Jan</style></author><author><style face="normal" font="default" size="100%">Lauer, Katharina B.</style></author><author><style face="normal" font="default" size="100%">Laurie, Steve</style></author><author><style face="normal" font="default" size="100%">Leskošek, Brane</style></author><author><style face="normal" font="default" size="100%">Lloyd, David</style></author><author><style face="normal" font="default" size="100%">Marqués-Bonet, Tomás</style></author><author><style face="normal" font="default" size="100%">Mei, Hailiang</style></author><author><style face="normal" font="default" size="100%">Monostory, Katalin</style></author><author><style face="normal" font="default" size="100%">Piñero, Janet</style></author><author><style face="normal" font="default" size="100%">Poterlowicz, Krzysztof</style></author><author><style face="normal" font="default" size="100%">Rath, Ana</style></author><author><style face="normal" font="default" size="100%">Samarakoon, Pubudu</style></author><author><style face="normal" font="default" size="100%">Sanz, Ferran</style></author><author><style face="normal" font="default" size="100%">Saunders, Gary</style></author><author><style face="normal" font="default" size="100%">Sie, Daoud</style></author><author><style face="normal" font="default" size="100%">Swertz, Morris A.</style></author><author><style face="normal" font="default" size="100%">Tsukanov, Kirill</style></author><author><style face="normal" font="default" size="100%">Valencia, Alfonso</style></author><author><style face="normal" font="default" size="100%">Vidak, Marko</style></author><author><style face="normal" font="default" size="100%">Yenyxe González, Cristina</style></author><author><style face="normal" font="default" size="100%">Ylstra, Bauke</style></author><author><style face="normal" font="default" size="100%">Béroud, Christophe</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research</style></title><secondary-title><style face="normal" font="default" size="100%">F1000Research</style></secondary-title><short-title><style face="normal" font="default" size="100%">F1000Res</style></short-title></titles><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Jan-01-2020</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.f1000research.comhttps://f1000research.com/articles/9-1229/v1https://f1000research.com/articles/9-1229/v1/iparadigmshttps://f1000research.com/articles/9-1229/v1/xmlhttps://f1000research.com/articles/9-1229/v1/pdf</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">9</style></volume><pages><style face="normal" font="default" size="100%">1229</style></pages><language><style face="normal" font="default" size="100%">eng</style></language></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%">Salgado, David</style></author><author><style face="normal" font="default" size="100%">Armean, Irina M</style></author><author><style face="normal" font="default" size="100%">Baudis, Michael</style></author><author><style face="normal" font="default" size="100%">Beltran, Sergi</style></author><author><style face="normal" font="default" size="100%">Capella-Gutíerrez, Salvador</style></author><author><style face="normal" font="default" size="100%">Carvalho-Silva, Denise</style></author><author><style face="normal" font="default" size="100%">Dominguez Del Angel, Victoria</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Furlong, Laura I</style></author><author><style face="normal" font="default" size="100%">Gao, Bo</style></author><author><style face="normal" font="default" size="100%">Garcia, Leyla</style></author><author><style face="normal" font="default" size="100%">Gerloff, Dietlind</style></author><author><style face="normal" font="default" size="100%">Gut, Ivo</style></author><author><style face="normal" font="default" size="100%">Gyenesei, Attila</style></author><author><style face="normal" font="default" size="100%">Habermann, Nina</style></author><author><style face="normal" font="default" size="100%">Hancock, John M</style></author><author><style face="normal" font="default" size="100%">Hanauer, Marc</style></author><author><style face="normal" font="default" size="100%">Hovig, Eivind</style></author><author><style face="normal" font="default" size="100%">Johansson, Lennart F</style></author><author><style face="normal" font="default" size="100%">Keane, Thomas</style></author><author><style face="normal" font="default" size="100%">Korbel, Jan</style></author><author><style face="normal" font="default" size="100%">Lauer, Katharina B</style></author><author><style face="normal" font="default" size="100%">Laurie, Steve</style></author><author><style face="normal" font="default" size="100%">Leskošek, Brane</style></author><author><style face="normal" font="default" size="100%">Lloyd, David</style></author><author><style face="normal" font="default" size="100%">Marqués-Bonet, Tomás</style></author><author><style face="normal" font="default" size="100%">Mei, Hailiang</style></author><author><style face="normal" font="default" size="100%">Monostory, Katalin</style></author><author><style face="normal" font="default" size="100%">Piñero, Janet</style></author><author><style face="normal" font="default" size="100%">Poterlowicz, Krzysztof</style></author><author><style face="normal" font="default" size="100%">Rath, Ana</style></author><author><style face="normal" font="default" size="100%">Samarakoon, Pubudu</style></author><author><style face="normal" font="default" size="100%">Sanz, Ferran</style></author><author><style face="normal" font="default" size="100%">Saunders, Gary</style></author><author><style face="normal" font="default" size="100%">Sie, Daoud</style></author><author><style face="normal" font="default" size="100%">Swertz, Morris A</style></author><author><style face="normal" font="default" size="100%">Tsukanov, Kirill</style></author><author><style face="normal" font="default" size="100%">Valencia, Alfonso</style></author><author><style face="normal" font="default" size="100%">Vidak, Marko</style></author><author><style face="normal" font="default" size="100%">Yenyxe González, Cristina</style></author><author><style face="normal" font="default" size="100%">Ylstra, Bauke</style></author><author><style face="normal" font="default" size="100%">Béroud, Christophe</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.</style></title><secondary-title><style face="normal" font="default" size="100%">F1000Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">F1000Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Computational Biology</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Copy Number Variations</style></keyword><keyword><style  face="normal" font="default" size="100%">High-Throughput Nucleotide Sequencing</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">9</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Copy number variations (CNVs) are major causative contributors both in the genesis of genetic diseases and human neoplasias. While &quot;High-Throughput&quot; sequencing technologies are increasingly becoming the primary choice for genomic screening analysis, their ability to efficiently detect CNVs is still heterogeneous and remains to be developed. The aim of this white paper is to provide a guiding framework for the future contributions of ELIXIR's recently established   with implications beyond human disease diagnostics and population genomics. This white paper is the direct result of a strategy meeting that took place in September 2018 in Hinxton (UK) and involved representatives of 11 ELIXIR Nodes. The meeting led to the definition of priority objectives and tasks, to address a wide range of CNV-related challenges ranging from detection and interpretation to sharing and training. Here, we provide suggestions on how to align these tasks within the ELIXIR Platforms strategy, and on how to frame the activities of this new ELIXIR Community in the international context.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/34367618?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%">Matalonga, Leslie</style></author><author><style face="normal" font="default" size="100%">Bravo, Miren</style></author><author><style face="normal" font="default" size="100%">Serra-Peinado, Carla</style></author><author><style face="normal" font="default" size="100%">García-Pelegrí, Elisabeth</style></author><author><style face="normal" font="default" size="100%">Ugarteburu, Olatz</style></author><author><style face="normal" font="default" size="100%">Vidal, Silvia</style></author><author><style face="normal" font="default" size="100%">Llambrich, Maria</style></author><author><style face="normal" font="default" size="100%">Quintana, Ester</style></author><author><style face="normal" font="default" size="100%">Fuster-Jorge, Pedro</style></author><author><style face="normal" font="default" size="100%">Gonzalez-Bravo, Maria Nieves</style></author><author><style face="normal" font="default" size="100%">Beltran, Sergi</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Foulquier, François</style></author><author><style face="normal" font="default" size="100%">Matthijs, Gert</style></author><author><style face="normal" font="default" size="100%">Mills, Philippa</style></author><author><style face="normal" font="default" size="100%">Ribes, Antonia</style></author><author><style face="normal" font="default" size="100%">Egea, Gustavo</style></author><author><style face="normal" font="default" size="100%">Briones, Paz</style></author><author><style face="normal" font="default" size="100%">Tort, Frederic</style></author><author><style face="normal" font="default" size="100%">Girós, Marisa</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.</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><keywords><keyword><style  face="normal" font="default" size="100%">Abnormalities, Multiple</style></keyword><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Amino Acid Substitution</style></keyword><keyword><style  face="normal" font="default" size="100%">Brain</style></keyword><keyword><style  face="normal" font="default" size="100%">Congenital Disorders of Glycosylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Magnetic Resonance Imaging</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Vesicular Transport Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Whole Genome Sequencing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 02</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">38</style></volume><pages><style face="normal" font="default" size="100%">148-151</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Golgi apparatus (GA), and the vesicular trafficking from the ER to the ER-Golgi intermediate compartment (ERGIC) have been found to be associated with CDG. Here, we report a patient with defects in both N- and O-glycosylation combined with a delayed vesicular transport in the GA due to mutations in TRAPPC11, a subunit of the TRAPPIII complex. TRAPPIII is implicated in the anterograde transport from the ER to the ERGIC as well as in the vesicle export from the GA. This report expands the spectrum of genetic alterations associated with CDG, providing new insights for the diagnosis and the understanding of the physiopathological mechanisms underlying glycosylation disorders.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/27862579?dopt=Abstract</style></custom1></record></records></xml>