<?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%">Bogliolo, Massimo</style></author><author><style face="normal" font="default" size="100%">Pujol, Roser</style></author><author><style face="normal" font="default" size="100%">Aza-Carmona, Miriam</style></author><author><style face="normal" font="default" size="100%">Muñoz-Subirana, Núria</style></author><author><style face="normal" font="default" size="100%">Rodriguez-Santiago, Benjamin</style></author><author><style face="normal" font="default" size="100%">Casado, José Antonio</style></author><author><style face="normal" font="default" size="100%">Rio, Paula</style></author><author><style face="normal" font="default" size="100%">Bauser, Christopher</style></author><author><style face="normal" font="default" size="100%">Reina-Castillón, Judith</style></author><author><style face="normal" font="default" size="100%">Lopez-Sanchez, Marcos</style></author><author><style face="normal" font="default" size="100%">Gonzalez-Quereda, Lidia</style></author><author><style face="normal" font="default" size="100%">Gallano, Pia</style></author><author><style face="normal" font="default" size="100%">Catalá, Albert</style></author><author><style face="normal" font="default" size="100%">Ruiz-Llobet, Ana</style></author><author><style face="normal" font="default" size="100%">Badell, Isabel</style></author><author><style face="normal" font="default" size="100%">Diaz-Heredia, Cristina</style></author><author><style face="normal" font="default" size="100%">Hladun, Raquel</style></author><author><style face="normal" font="default" size="100%">Senent, Leonort</style></author><author><style face="normal" font="default" size="100%">Argiles, Bienvenida</style></author><author><style face="normal" font="default" size="100%">Bergua Burgues, Juan Miguel</style></author><author><style face="normal" font="default" size="100%">Bañez, Fatima</style></author><author><style face="normal" font="default" size="100%">Arrizabalaga, Beatriz</style></author><author><style face="normal" font="default" size="100%">López Almaraz, Ricardo</style></author><author><style face="normal" font="default" size="100%">Lopez, Monica</style></author><author><style face="normal" font="default" size="100%">Figuera, Ángela</style></author><author><style face="normal" font="default" size="100%">Molinés, Antonio</style></author><author><style face="normal" font="default" size="100%">Pérez de Soto, Inmaculada</style></author><author><style face="normal" font="default" size="100%">Hernando, Inés</style></author><author><style face="normal" font="default" size="100%">Muñoz, Juan Antonio</style></author><author><style face="normal" font="default" size="100%">Del Rosario Marin, Maria</style></author><author><style face="normal" font="default" size="100%">Balmaña, Judith</style></author><author><style face="normal" font="default" size="100%">Stjepanovic, Neda</style></author><author><style face="normal" font="default" size="100%">Carrasco, Estela</style></author><author><style face="normal" font="default" size="100%">Cuesta, Isabel</style></author><author><style face="normal" font="default" size="100%">Cosuelo, José Miguel</style></author><author><style face="normal" font="default" size="100%">Regueiro, Alexandra</style></author><author><style face="normal" font="default" size="100%">Moraleda Jimenez, José</style></author><author><style face="normal" font="default" size="100%">Galera-Miñarro, Ana Maria</style></author><author><style face="normal" font="default" size="100%">Rosiñol, Laura</style></author><author><style face="normal" font="default" size="100%">Carrió, Anna</style></author><author><style face="normal" font="default" size="100%">Beléndez-Bieler, Cristina</style></author><author><style face="normal" font="default" size="100%">Escudero Soto, Antonio</style></author><author><style face="normal" font="default" size="100%">Cela, Elena</style></author><author><style face="normal" font="default" size="100%">de la Mata, Gregorio</style></author><author><style face="normal" font="default" size="100%">Fernández-Delgado, Rafael</style></author><author><style face="normal" font="default" size="100%">Garcia-Pardos, Maria Carmen</style></author><author><style face="normal" font="default" size="100%">Sáez-Villaverde, Raquel</style></author><author><style face="normal" font="default" size="100%">Barragaño, Marta</style></author><author><style face="normal" font="default" size="100%">Portugal, Raquel</style></author><author><style face="normal" font="default" size="100%">Lendinez, Francisco</style></author><author><style face="normal" font="default" size="100%">Hernadez, Ines</style></author><author><style face="normal" font="default" size="100%">Vagace, José Manue</style></author><author><style face="normal" font="default" size="100%">Tapia, Maria</style></author><author><style face="normal" font="default" size="100%">Nieto, José</style></author><author><style face="normal" font="default" size="100%">Garcia, Marta</style></author><author><style face="normal" font="default" size="100%">Gonzalez, Macarena</style></author><author><style face="normal" font="default" size="100%">Vicho, Cristina</style></author><author><style face="normal" font="default" size="100%">Galvez, Eva</style></author><author><style face="normal" font="default" size="100%">Valiente, Alberto</style></author><author><style face="normal" font="default" size="100%">Antelo, Maria Luisa</style></author><author><style face="normal" font="default" size="100%">Ancliff, Phil</style></author><author><style face="normal" font="default" size="100%">García, Francisco</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Sevilla, Julian</style></author><author><style face="normal" font="default" size="100%">Paprotka, Tobias</style></author><author><style face="normal" font="default" size="100%">Pérez-Jurado, Luis Alberto</style></author><author><style face="normal" font="default" size="100%">Bueren, Juan</style></author><author><style face="normal" font="default" size="100%">Surralles, Jordi</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.</style></title><secondary-title><style face="normal" font="default" size="100%">J Med Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J Med Genet</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Cell Line</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Copy Number Variations</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Repair</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA-Binding Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Fanconi Anemia</style></keyword><keyword><style  face="normal" font="default" size="100%">Fanconi Anemia Complementation Group A Protein</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Knockout Techniques</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%">Mutation, Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">whole exome sequencing</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 04</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">57</style></volume><pages><style face="normal" font="default" size="100%">258-268</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;Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since FA is caused by point mutations and large deletions in 22 genes following three heritability patterns. To optimise FA patients' characterisation, we developed a simplified but effective methodology based on whole exome sequencing (WES) and functional studies.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;68 patients with FA were analysed by commercial WES services. Copy number variations were evaluated by sequencing data analysis with RStudio. To test  missense variants, wt FANCA cDNA was cloned and variants were introduced by site-directed mutagenesis. Vectors were then tested for their ability to complement DNA repair defects of a FANCA-KO human cell line generated by TALEN technologies.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We identified 93.3% of mutated alleles including large deletions. We determined the pathogenicity of three FANCA missense variants and demonstrated that two  variants reported in mutations databases as 'affecting functions' are SNPs. Deep analysis of sequencing data revealed patients' true mutations, highlighting the importance of functional analysis. In one patient, no pathogenic variant could be identified in any of the 22 known FA genes, and in seven patients, only one deleterious variant could be identified (three patients each with FANCA and FANCD2 and one patient with FANCE mutations) CONCLUSION: WES and proper bioinformatics analysis are sufficient to effectively characterise patients with FA regardless of the rarity of their complementation group, type of mutations, mosaic condition and DNA source.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/31586946?dopt=Abstract</style></custom1></record></records></xml>