<?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%">Greene, Daniel</style></author><author><style face="normal" font="default" size="100%">De Wispelaere, Koenraad</style></author><author><style face="normal" font="default" size="100%">Lees, Jon</style></author><author><style face="normal" font="default" size="100%">Codina-Solà, Marta</style></author><author><style face="normal" font="default" size="100%">Jensson, Brynjar O.</style></author><author><style face="normal" font="default" size="100%">Hales, Emma</style></author><author><style face="normal" font="default" size="100%">Katrinecz, Andrea</style></author><author><style face="normal" font="default" size="100%">Nieto Molina, Esther</style></author><author><style face="normal" font="default" size="100%">Sevilla Porras, Marta</style></author><author><style face="normal" font="default" size="100%">Pascoal, Sonia</style></author><author><style face="normal" font="default" size="100%">Valenzuela, Irene</style></author><author><style face="normal" font="default" size="100%">Pfundt, Rolph</style></author><author><style face="normal" font="default" size="100%">Schot, Rachel</style></author><author><style face="normal" font="default" size="100%">Sleutels, Frank</style></author><author><style face="normal" font="default" size="100%">Wijngaard, Robin</style></author><author><style face="normal" font="default" size="100%">Arroyo Carrera, Ignacio</style></author><author><style face="normal" font="default" size="100%">Duat Rodríguez, Anna</style></author><author><style face="normal" font="default" size="100%">Atton, Giles</style></author><author><style face="normal" font="default" size="100%">Casas-Alba, Didac</style></author><author><style face="normal" font="default" size="100%">Donnelly, Deirdre</style></author><author><style face="normal" font="default" size="100%">Fernández Garoz, Bárbara</style></author><author><style face="normal" font="default" size="100%">Foulds, Nicola</style></author><author><style face="normal" font="default" size="100%">García-Navas Núñez, Deyanira</style></author><author><style face="normal" font="default" size="100%">González Alguacil, Elena</style></author><author><style face="normal" font="default" size="100%">Jarvis, Joanna</style></author><author><style face="normal" font="default" size="100%">Kant, Sarina G.</style></author><author><style face="normal" font="default" size="100%">Madrigal Bajo, Irene</style></author><author><style face="normal" font="default" size="100%">Martinez-Monseny, Antonio F.</style></author><author><style face="normal" font="default" size="100%">McKee, Shane</style></author><author><style face="normal" font="default" size="100%">Sariego Jamardo, Andrea</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Rodríguez-Revenga Bodi, Laia</style></author><author><style face="normal" font="default" size="100%">Ortiz Cabrera, Nelmar Valentina</style></author><author><style face="normal" font="default" size="100%">Sulem, Patrick</style></author><author><style face="normal" font="default" size="100%">Suri, Mohnish</style></author><author><style face="normal" font="default" size="100%">Van Karnebeek, Clara</style></author><author><style face="normal" font="default" size="100%">Vasudevan, Pradeep</style></author><author><style face="normal" font="default" size="100%">Vega Pajares, Ana Isabel</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Engelen, Marc</style></author><author><style face="normal" font="default" size="100%">Lapunzina, Pablo</style></author><author><style face="normal" font="default" size="100%">Morgan, Natasha P.</style></author><author><style face="normal" font="default" size="100%">Morte, Beatriz</style></author><author><style face="normal" font="default" size="100%">Rump, Patrick</style></author><author><style face="normal" font="default" size="100%">Stirrups, Kathy</style></author><author><style face="normal" font="default" size="100%">Tizzano, Eduardo F.</style></author><author><style face="normal" font="default" size="100%">Barakat, Tahsin Stefan</style></author><author><style face="normal" font="default" size="100%">O’Donoghue, Michael</style></author><author><style face="normal" font="default" size="100%">Pérez-Jurado, Luis Alberto</style></author><author><style face="normal" font="default" size="100%">Freson, Kathleen</style></author><author><style face="normal" font="default" size="100%">Mumford, Andrew D.</style></author><author><style face="normal" font="default" size="100%">Turro, Ernest</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy</style></title><secondary-title><style face="normal" font="default" size="100%">Nature Genetics</style></secondary-title><short-title><style face="normal" font="default" size="100%">Nat Genet</style></short-title></titles><dates><year><style  face="normal" font="default" size="100%">2025</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Oct-04-2025</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">https://www.nature.com/articles/s41588-025-02159-5https://www.nature.com/articles/s41588-025-02159-5.pdfhttps://www.nature.com/articles/s41588-025-02159-5.pdfhttps://www.nature.com/articles/s41588-025-02159-5</style></url></web-urls></urls><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%">Luque, Juan</style></author><author><style face="normal" font="default" size="100%">Mendes, Ingrid</style></author><author><style face="normal" font="default" size="100%">Gómez, Beatriz</style></author><author><style face="normal" font="default" size="100%">Morte, Beatriz</style></author><author><style face="normal" font="default" size="100%">de Heredia, Miguel López</style></author><author><style face="normal" font="default" size="100%">Herreras, Enrique</style></author><author><style face="normal" font="default" size="100%">Corrochano, Virginia</style></author><author><style face="normal" font="default" size="100%">Bueren, Juan</style></author><author><style face="normal" font="default" size="100%">Gallano, Pia</style></author><author><style face="normal" font="default" size="100%">Artuch, Rafael</style></author><author><style face="normal" font="default" size="100%">Fillat, Cristina</style></author><author><style face="normal" font="default" size="100%">Pérez-Jurado, Luis A</style></author><author><style face="normal" font="default" size="100%">Montoliu, Lluis</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Millán, José M</style></author><author><style face="normal" font="default" size="100%">Webb, Susan M</style></author><author><style face="normal" font="default" size="100%">Palau, Francesc</style></author><author><style face="normal" font="default" size="100%">Lapunzina, Pablo</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">CIBERER Network</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative.</style></title><secondary-title><style face="normal" font="default" size="100%">Clin Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Clin Genet</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2022</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2022 Jan 20</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on Rare Diseases currently consists of 75 research groups belonging to universities, research centers and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical and cellular research of rare diseases. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this paper, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions towards the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to rare disease research. This article is protected by copyright. All rights reserved.&lt;/p&gt;</style></abstract></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%">Cruz, Raquel</style></author><author><style face="normal" font="default" size="100%">Almeida, Silvia Diz-de</style></author><author><style face="normal" font="default" size="100%">Heredia, Miguel López</style></author><author><style face="normal" font="default" size="100%">Quintela, Inés</style></author><author><style face="normal" font="default" size="100%">Ceballos, Francisco C</style></author><author><style face="normal" font="default" size="100%">Pita, Guillermo</style></author><author><style face="normal" font="default" size="100%">Lorenzo-Salazar, José M</style></author><author><style face="normal" font="default" size="100%">González-Montelongo, Rafaela</style></author><author><style face="normal" font="default" size="100%">Gago-Domínguez, Manuela</style></author><author><style face="normal" font="default" size="100%">Porras, Marta Sevilla</style></author><author><style face="normal" font="default" size="100%">Castaño, Jair Antonio Tenorio</style></author><author><style face="normal" font="default" size="100%">Nevado, Julián</style></author><author><style face="normal" font="default" size="100%">Aguado, Jose María</style></author><author><style face="normal" font="default" size="100%">Aguilar, Carlos</style></author><author><style face="normal" font="default" size="100%">Aguilera-Albesa, Sergio</style></author><author><style face="normal" font="default" size="100%">Almadana, Virginia</style></author><author><style face="normal" font="default" size="100%">Almoguera, Berta</style></author><author><style face="normal" font="default" size="100%">Alvarez, Nuria</style></author><author><style face="normal" font="default" size="100%">Andreu-Bernabeu, Álvaro</style></author><author><style face="normal" font="default" size="100%">Arana-Arri, Eunate</style></author><author><style face="normal" font="default" size="100%">Arango, Celso</style></author><author><style face="normal" font="default" size="100%">Arranz, María J</style></author><author><style face="normal" font="default" size="100%">Artiga, Maria-Jesus</style></author><author><style face="normal" font="default" size="100%">Baptista-Rosas, Raúl C</style></author><author><style face="normal" font="default" size="100%">Barreda-Sánchez, María</style></author><author><style face="normal" font="default" size="100%">Belhassen-Garcia, Moncef</style></author><author><style face="normal" font="default" size="100%">Bezerra, Joao F</style></author><author><style face="normal" font="default" size="100%">Bezerra, Marcos A C</style></author><author><style face="normal" font="default" size="100%">Boix-Palop, Lucía</style></author><author><style face="normal" font="default" size="100%">Brión, Maria</style></author><author><style face="normal" font="default" size="100%">Brugada, Ramón</style></author><author><style face="normal" font="default" size="100%">Bustos, Matilde</style></author><author><style face="normal" font="default" size="100%">Calderón, Enrique J</style></author><author><style face="normal" font="default" size="100%">Carbonell, Cristina</style></author><author><style face="normal" font="default" size="100%">Castano, Luis</style></author><author><style face="normal" font="default" size="100%">Castelao, Jose E</style></author><author><style face="normal" font="default" size="100%">Conde-Vicente, Rosa</style></author><author><style face="normal" font="default" size="100%">Cordero-Lorenzana, M Lourdes</style></author><author><style face="normal" font="default" size="100%">Cortes-Sanchez, Jose L</style></author><author><style face="normal" font="default" size="100%">Corton, Marta</style></author><author><style face="normal" font="default" size="100%">Darnaude, M Teresa</style></author><author><style face="normal" font="default" size="100%">De Martino-Rodríguez, Alba</style></author><author><style face="normal" font="default" size="100%">Campo-Pérez, Victor</style></author><author><style face="normal" font="default" size="100%">Bustamante, Aranzazu Diaz</style></author><author><style face="normal" font="default" size="100%">Domínguez-Garrido, Elena</style></author><author><style face="normal" font="default" size="100%">Luchessi, André D</style></author><author><style face="normal" font="default" size="100%">Eirós, Rocío</style></author><author><style face="normal" font="default" size="100%">Sanabria, Gladys Mercedes Estigarribia</style></author><author><style face="normal" font="default" size="100%">Fariñas, María Carmen</style></author><author><style face="normal" font="default" size="100%">Fernández-Robelo, Uxía</style></author><author><style face="normal" font="default" size="100%">Fernández-Rodríguez, Amanda</style></author><author><style face="normal" font="default" size="100%">Fernández-Villa, Tania</style></author><author><style face="normal" font="default" size="100%">Gil-Fournier, Belén</style></author><author><style face="normal" font="default" size="100%">Gómez-Arrue, Javier</style></author><author><style face="normal" font="default" size="100%">Álvarez, Beatriz González</style></author><author><style face="normal" font="default" size="100%">Quirós, Fernan Gonzalez Bernaldo</style></author><author><style face="normal" font="default" size="100%">González-Peñas, Javier</style></author><author><style face="normal" font="default" size="100%">Gutiérrez-Bautista, Juan F</style></author><author><style face="normal" font="default" size="100%">Herrero, María José</style></author><author><style face="normal" font="default" size="100%">Herrero-Gonzalez, Antonio</style></author><author><style face="normal" font="default" size="100%">Jimenez-Sousa, María A</style></author><author><style face="normal" font="default" size="100%">Lattig, María Claudia</style></author><author><style face="normal" font="default" size="100%">Borja, Anabel Liger</style></author><author><style face="normal" font="default" size="100%">Lopez-Rodriguez, Rosario</style></author><author><style face="normal" font="default" size="100%">Mancebo, Esther</style></author><author><style face="normal" font="default" size="100%">Martín-López, Caridad</style></author><author><style face="normal" font="default" size="100%">Martín, Vicente</style></author><author><style face="normal" font="default" size="100%">Martinez-Nieto, Oscar</style></author><author><style face="normal" font="default" size="100%">Martinez-Lopez, Iciar</style></author><author><style face="normal" font="default" size="100%">Martinez-Resendez, Michel F</style></author><author><style face="normal" font="default" size="100%">Martinez-Perez, Ángel</style></author><author><style face="normal" font="default" size="100%">Mazzeu, Juliana A</style></author><author><style face="normal" font="default" size="100%">Macías, Eleuterio Merayo</style></author><author><style face="normal" font="default" size="100%">Minguez, Pablo</style></author><author><style face="normal" font="default" size="100%">Cuerda, Victor Moreno</style></author><author><style face="normal" font="default" size="100%">Silbiger, Vivian N</style></author><author><style face="normal" font="default" size="100%">Oliveira, Silviene F</style></author><author><style face="normal" font="default" size="100%">Ortega-Paino, Eva</style></author><author><style face="normal" font="default" size="100%">Parellada, Mara</style></author><author><style face="normal" font="default" size="100%">Paz-Artal, Estela</style></author><author><style face="normal" font="default" size="100%">Santos, Ney P C</style></author><author><style face="normal" font="default" size="100%">Pérez-Matute, Patricia</style></author><author><style face="normal" font="default" size="100%">Perez, Patricia</style></author><author><style face="normal" font="default" size="100%">Pérez-Tomás, M Elena</style></author><author><style face="normal" font="default" size="100%">Perucho, Teresa</style></author><author><style face="normal" font="default" size="100%">Pinsach-Abuin, Mel Lina</style></author><author><style face="normal" font="default" size="100%">Pompa-Mera, Ericka N</style></author><author><style face="normal" font="default" size="100%">Porras-Hurtado, Gloria L</style></author><author><style face="normal" font="default" size="100%">Pujol, Aurora</style></author><author><style face="normal" font="default" size="100%">León, Soraya Ramiro</style></author><author><style face="normal" font="default" size="100%">Resino, Salvador</style></author><author><style face="normal" font="default" size="100%">Fernandes, Marianne R</style></author><author><style face="normal" font="default" size="100%">Rodríguez-Ruiz, Emilio</style></author><author><style face="normal" font="default" size="100%">Rodriguez-Artalejo, Fernando</style></author><author><style face="normal" font="default" size="100%">Rodriguez-Garcia, José A</style></author><author><style face="normal" font="default" size="100%">Ruiz-Cabello, Francisco</style></author><author><style face="normal" font="default" size="100%">Ruiz-Hornillos, Javier</style></author><author><style face="normal" font="default" size="100%">Ryan, Pablo</style></author><author><style face="normal" font="default" size="100%">Soria, José Manuel</style></author><author><style face="normal" font="default" size="100%">Souto, Juan Carlos</style></author><author><style face="normal" font="default" size="100%">Tamayo, Eduardo</style></author><author><style face="normal" font="default" size="100%">Tamayo-Velasco, Alvaro</style></author><author><style face="normal" font="default" size="100%">Taracido-Fernandez, Juan Carlos</style></author><author><style face="normal" font="default" size="100%">Teper, Alejandro</style></author><author><style face="normal" font="default" size="100%">Torres-Tobar, Lilian</style></author><author><style face="normal" font="default" size="100%">Urioste, Miguel</style></author><author><style face="normal" font="default" size="100%">Valencia-Ramos, Juan</style></author><author><style face="normal" font="default" size="100%">Yáñez, Zuleima</style></author><author><style face="normal" font="default" size="100%">Zarate, Ruth</style></author><author><style face="normal" font="default" size="100%">Nakanishi, Tomoko</style></author><author><style face="normal" font="default" size="100%">Pigazzini, Sara</style></author><author><style face="normal" font="default" size="100%">Degenhardt, Frauke</style></author><author><style face="normal" font="default" size="100%">Butler-Laporte, Guillaume</style></author><author><style face="normal" font="default" size="100%">Maya-Miles, Douglas</style></author><author><style face="normal" font="default" size="100%">Bujanda, Luis</style></author><author><style face="normal" font="default" size="100%">Bouysran, Youssef</style></author><author><style face="normal" font="default" size="100%">Palom, Adriana</style></author><author><style face="normal" font="default" size="100%">Ellinghaus, David</style></author><author><style face="normal" font="default" size="100%">Martínez-Bueno, Manuel</style></author><author><style face="normal" font="default" size="100%">Rolker, Selina</style></author><author><style face="normal" font="default" size="100%">Amitrano, Sara</style></author><author><style face="normal" font="default" size="100%">Roade, Luisa</style></author><author><style face="normal" font="default" size="100%">Fava, Francesca</style></author><author><style face="normal" font="default" size="100%">Spinner, Christoph D</style></author><author><style face="normal" font="default" size="100%">Prati, Daniele</style></author><author><style face="normal" font="default" size="100%">Bernardo, David</style></author><author><style face="normal" font="default" size="100%">García, Federico</style></author><author><style face="normal" font="default" size="100%">Darcis, Gilles</style></author><author><style face="normal" font="default" size="100%">Fernández-Cadenas, Israel</style></author><author><style face="normal" font="default" size="100%">Holter, Jan Cato</style></author><author><style face="normal" font="default" size="100%">Banales, Jesus M</style></author><author><style face="normal" font="default" size="100%">Frithiof, Robert</style></author><author><style face="normal" font="default" size="100%">Duga, Stefano</style></author><author><style face="normal" font="default" size="100%">Asselta, Rosanna</style></author><author><style face="normal" font="default" size="100%">Pereira, Alexandre C</style></author><author><style face="normal" font="default" size="100%">Romero-Gómez, Manuel</style></author><author><style face="normal" font="default" size="100%">Nafría-Jiménez, Beatriz</style></author><author><style face="normal" font="default" size="100%">Hov, Johannes R</style></author><author><style face="normal" font="default" size="100%">Migeotte, Isabelle</style></author><author><style face="normal" font="default" size="100%">Renieri, Alessandra</style></author><author><style face="normal" font="default" size="100%">Planas, Anna M</style></author><author><style face="normal" font="default" size="100%">Ludwig, Kerstin U</style></author><author><style face="normal" font="default" size="100%">Buti, Maria</style></author><author><style face="normal" font="default" size="100%">Rahmouni, Souad</style></author><author><style face="normal" font="default" size="100%">Alarcón-Riquelme, Marta E</style></author><author><style face="normal" font="default" size="100%">Schulte, Eva C</style></author><author><style face="normal" font="default" size="100%">Franke, Andre</style></author><author><style face="normal" font="default" size="100%">Karlsen, Tom H</style></author><author><style face="normal" font="default" size="100%">Valenti, Luca</style></author><author><style face="normal" font="default" size="100%">Zeberg, Hugo</style></author><author><style face="normal" font="default" size="100%">Richards, Brent</style></author><author><style face="normal" font="default" size="100%">Ganna, Andrea</style></author><author><style face="normal" font="default" size="100%">Boada, Mercè</style></author><author><style face="normal" font="default" size="100%">Rojas, Itziar</style></author><author><style face="normal" font="default" size="100%">Ruiz, Agustín</style></author><author><style face="normal" font="default" size="100%">Sánchez, Pascual</style></author><author><style face="normal" font="default" size="100%">Real, Luis Miguel</style></author><author><style face="normal" font="default" size="100%">Guillén-Navarro, Encarna</style></author><author><style face="normal" font="default" size="100%">Ayuso, Carmen</style></author><author><style face="normal" font="default" size="100%">González-Neira, Anna</style></author><author><style face="normal" font="default" size="100%">Riancho, José A</style></author><author><style face="normal" font="default" size="100%">Rojas-Martinez, Augusto</style></author><author><style face="normal" font="default" size="100%">Flores, Carlos</style></author><author><style face="normal" font="default" size="100%">Lapunzina, Pablo</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">SCOURGE Cohort Group</style></author><author><style face="normal" font="default" size="100%">HOSTAGE Cohort Group</style></author><author><style face="normal" font="default" size="100%">GRA@CE Cohort Group</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel genes and sex differences in COVID-19 severity.</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Mol Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hum Mol Genet</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2022</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2022 Jun 16</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Here we describe the results of a genome-wide study conducted in 11 939 COVID-19 positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (p &lt; 5x10-8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (p = 1.3x10-22 and p = 8.1x10-12, respectively), and for variants in 9q21.32 near TLE1 only among females (p = 4.4x10-8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (p = 2.7x10-8) and ARHGAP33 (p = 1.3x10-8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, p = 4.1x10-8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (&lt;60 or ≥ 60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.&lt;/p&gt;</style></abstract></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%">Peña-Chilet, Maria</style></author><author><style face="normal" font="default" size="100%">Roldán, Gema</style></author><author><style face="normal" font="default" size="100%">Perez-Florido, Javier</style></author><author><style face="normal" font="default" size="100%">Ortuno, Francisco M</style></author><author><style face="normal" font="default" size="100%">Carmona, Rosario</style></author><author><style face="normal" font="default" size="100%">Aquino, Virginia</style></author><author><style face="normal" font="default" size="100%">López-López, Daniel</style></author><author><style face="normal" font="default" size="100%">Loucera, Carlos</style></author><author><style face="normal" font="default" size="100%">Fernandez-Rueda, Jose L</style></author><author><style face="normal" font="default" size="100%">Gallego, Asunción</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">González-Neira, Anna</style></author><author><style face="normal" font="default" size="100%">Pita, Guillermo</style></author><author><style face="normal" font="default" size="100%">Núñez-Torres, Rocío</style></author><author><style face="normal" font="default" size="100%">Santoyo-López, Javier</style></author><author><style face="normal" font="default" size="100%">Ayuso, Carmen</style></author><author><style face="normal" font="default" size="100%">Minguez, Pablo</style></author><author><style face="normal" font="default" size="100%">Avila-Fernandez, Almudena</style></author><author><style face="normal" font="default" size="100%">Corton, Marta</style></author><author><style face="normal" font="default" size="100%">Moreno-Pelayo, Miguel Ángel</style></author><author><style face="normal" font="default" size="100%">Morin, Matías</style></author><author><style face="normal" font="default" size="100%">Gallego-Martinez, Alvaro</style></author><author><style face="normal" font="default" size="100%">Lopez-Escamez, Jose A</style></author><author><style face="normal" font="default" size="100%">Borrego, Salud</style></author><author><style face="normal" font="default" size="100%">Antiňolo, Guillermo</style></author><author><style face="normal" font="default" size="100%">Amigo, Jorge</style></author><author><style face="normal" font="default" size="100%">Salgado-Garrido, Josefa</style></author><author><style face="normal" font="default" size="100%">Pasalodos-Sanchez, Sara</style></author><author><style face="normal" font="default" size="100%">Morte, Beatriz</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Alonso, Ángel</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Spanish Exome Crowdsourcing Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">CSVS, a crowdsourcing database of the Spanish population genetic variability.</style></title><secondary-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosome Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">Crowdsourcing</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Population</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Internet</style></keyword><keyword><style  face="normal" font="default" size="100%">Precision Medicine</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</style></keyword><keyword><style  face="normal" font="default" size="100%">Spain</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2021 01 08</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">49</style></volume><pages><style face="normal" font="default" size="100%">D1130-D1137</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here, we present the Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes and exomes of unrelated Spanish individuals. This database has been generated in a collaborative crowdsourcing effort collecting sequencing data produced by local genomic projects and for other purposes. Sequences have been grouped by ICD10 upper categories. A web interface allows querying the database removing one or more ICD10 categories. In this way, aggregated counts of allele frequencies of the pseudo-control Spanish population can be obtained for diseases belonging to the category removed. Interestingly, in addition to pseudo-control studies, some population studies can be made, as, for example, prevalence of pharmacogenomic variants, etc. In addition, this genomic data has been used to define the first Spanish Genome Reference Panel (SGRP1.0) for imputation. This is the first local repository of variability entirely produced by a crowdsourcing effort and constitutes an example for future initiatives to characterize local variability worldwide. CSVS is also part of the GA4GH Beacon network. CSVS can be accessed at: http://csvs.babelomics.org/.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">D1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32990755?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%">Tenorio-Castaño, Jair</style></author><author><style face="normal" font="default" size="100%">Morte, Beatriz</style></author><author><style face="normal" font="default" size="100%">Nevado, Julián</style></author><author><style face="normal" font="default" size="100%">Martínez-Glez, Víctor</style></author><author><style face="normal" font="default" size="100%">Santos-Simarro, Fernando</style></author><author><style face="normal" font="default" size="100%">García-Miñaur, Sixto</style></author><author><style face="normal" font="default" size="100%">Palomares-Bralo, María</style></author><author><style face="normal" font="default" size="100%">Pacio-Míguez, Marta</style></author><author><style face="normal" font="default" size="100%">Gómez, Beatriz</style></author><author><style face="normal" font="default" size="100%">Arias, Pedro</style></author><author><style face="normal" font="default" size="100%">Alcochea, Alba</style></author><author><style face="normal" font="default" size="100%">Carrión, Juan</style></author><author><style face="normal" font="default" size="100%">Arias, Patricia</style></author><author><style face="normal" font="default" size="100%">Almoguera, Berta</style></author><author><style face="normal" font="default" size="100%">López-Grondona, Fermina</style></author><author><style face="normal" font="default" size="100%">Lorda-Sanchez, Isabel</style></author><author><style face="normal" font="default" size="100%">Galán-Gómez, Enrique</style></author><author><style face="normal" font="default" size="100%">Valenzuela, Irene</style></author><author><style face="normal" font="default" size="100%">Méndez Perez, María</style></author><author><style face="normal" font="default" size="100%">Cuscó, Ivón</style></author><author><style face="normal" font="default" size="100%">Barros, Francisco</style></author><author><style face="normal" font="default" size="100%">Pié, Juan</style></author><author><style face="normal" font="default" size="100%">Ramos, Sergio</style></author><author><style face="normal" font="default" size="100%">Ramos, Feliciano</style></author><author><style face="normal" font="default" size="100%">Kuechler, Alma</style></author><author><style face="normal" font="default" size="100%">Tizzano, Eduardo</style></author><author><style face="normal" font="default" size="100%">Ayuso, Carmen</style></author><author><style face="normal" font="default" size="100%">Kaiser, Frank</style></author><author><style face="normal" font="default" size="100%">Pérez-Jurado, Luis</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Lapunzina, Pablo</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">The ENoD-CIBERER Consortium</style></author><author><style face="normal" font="default" size="100%">The SIDE Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review</style></title><secondary-title><style face="normal" font="default" size="100%">Genes</style></secondary-title><short-title><style face="normal" font="default" size="100%">Genes</style></short-title></titles><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Jan-05-2021</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">https://www.mdpi.com/2073-4425/12/5/738https://www.mdpi.com/2073-4425/12/5/738/pdf</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">12</style></volume><pages><style face="normal" font="default" size="100%">738</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><issue><style face="normal" font="default" size="100%">5</style></issue></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%">Maroñas, Olalla</style></author><author><style face="normal" font="default" size="100%">Latorre, Ana</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Pirmohamed, Munir</style></author><author><style face="normal" font="default" size="100%">Rodríguez-Antona, Cristina</style></author><author><style face="normal" font="default" size="100%">Siest, Gérard</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">LLerena, Adrián</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Progress in pharmacogenetics: consortiums and new strategies.</style></title><secondary-title><style face="normal" font="default" size="100%">Drug Metab Pers Ther</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Drug Metab Pers Ther</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Cooperative Behavior</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">High-Throughput Screening Assays</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Patient Care Team</style></keyword><keyword><style  face="normal" font="default" size="100%">pharmacogenetics</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Precision Medicine</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2016</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2016 Mar</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">31</style></volume><pages><style face="normal" font="default" size="100%">17-23</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Pharmacogenetics (PGx), as a field dedicated to achieving the goal of personalized medicine (PM), is devoted to the study of genes involved in inter-individual response to drugs. Due to its nature, PGx requires access to large samples; therefore, in order to progress, the formation of collaborative consortia seems to be crucial. Some examples of this collective effort are the European Society of Pharmacogenomics and personalized Therapy and the Ibero-American network of Pharmacogenetics. As an emerging field, one of the major challenges that PGx faces is translating their discoveries from research bench to bedside. The development of genomic high-throughput technologies is generating a revolution and offers the possibility of producing vast amounts of genome-wide single nucleotide polymorphisms for each patient. Moreover, there is a need of identifying and replicating associations of new biomarkers, and, in addition, a greater effort must be invested in developing regulatory organizations to accomplish a correct standardization. In this review, we outline the current progress in PGx using examples to highlight both the importance of polymorphisms and the research strategies for their detection. These concepts need to be applied together with a proper dissemination of knowledge to improve clinician and patient understanding, in a multidisciplinary team-based approach. &lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/26913460?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%">Silbiger, Vivian N</style></author><author><style face="normal" font="default" size="100%">Luchessi, André D</style></author><author><style face="normal" font="default" size="100%">Hirata, Rosário D C</style></author><author><style face="normal" font="default" size="100%">Lima-Neto, Lídio G</style></author><author><style face="normal" font="default" size="100%">Cavichioli, Débora</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Brión, Maria</style></author><author><style face="normal" font="default" size="100%">Joaquín Dopazo</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Dos Santos, Elizabete S</style></author><author><style face="normal" font="default" size="100%">Ramos, Rui F</style></author><author><style face="normal" font="default" size="100%">Sampaio, Marcelo F</style></author><author><style face="normal" font="default" size="100%">Armaganijan, Dikran</style></author><author><style face="normal" font="default" size="100%">Sousa, Amanda G M R</style></author><author><style face="normal" font="default" size="100%">Hirata, Mario H</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome: Transcriptional profiling of acute coronary syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">Clinica chimica acta; international journal of clinical chemistry</style></secondary-title></titles><dates><year><style  face="normal" font="default" size="100%">2013</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2013 Mar 24</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">{BACKGROUND: Genome-wide expression analysis using microarrays has been used as a research strategy to discovery new biomarkers and candidate genes for a number of diseases. We aim to find new biomarkers for the prediction of acute coronary syndrome (ACS) with a differentially expressed mRNA profiling approach using whole genomic expression analysis in a peripheral blood cell model from patients with early ACS. METHODS AND RESULTS: This study was carried out in two phases. On phase 1 a restricted clinical criteria (ACS-Ph1</style></abstract></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%">Silbiger, Vivian N</style></author><author><style face="normal" font="default" size="100%">Luchessi, André D</style></author><author><style face="normal" font="default" size="100%">Hirata, Rosário D C</style></author><author><style face="normal" font="default" size="100%">Lima-Neto, Lídio G</style></author><author><style face="normal" font="default" size="100%">Cavichioli, Débora</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Brión, Maria</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%">Dos Santos, Elizabete S</style></author><author><style face="normal" font="default" size="100%">Ramos, Rui F</style></author><author><style face="normal" font="default" size="100%">Sampaio, Marcelo F</style></author><author><style face="normal" font="default" size="100%">Armaganijan, Dikran</style></author><author><style face="normal" font="default" size="100%">Sousa, Amanda G M R</style></author><author><style face="normal" font="default" size="100%">Hirata, Mario H</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">Clin Chim Acta</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Clin Chim Acta</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Acute Coronary Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Acute-Phase Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">biomarkers</style></keyword><keyword><style  face="normal" font="default" size="100%">Blood Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Early Diagnosis</style></keyword><keyword><style  face="normal" font="default" size="100%">gene expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Profiling</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%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Oligonucleotide Array Sequence Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Messenger</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcriptome</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 Jun 05</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">421</style></volume><pages><style face="normal" font="default" size="100%">184-90</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;BACKGROUND: &lt;/b&gt;Genome-wide expression analysis using microarrays has been used as a research strategy to discovery new biomarkers and candidate genes for a number of diseases. We aim to find new biomarkers for the prediction of acute coronary syndrome (ACS) with a differentially expressed mRNA profiling approach using whole genomic expression analysis in a peripheral blood cell model from patients with early ACS.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS AND RESULTS: &lt;/b&gt;This study was carried out in two phases. On phase 1 a restricted clinical criteria (ACS-Ph1, n=9 and CG-Ph1, n=6) was used in order to select potential mRNA biomarkers candidates. A subsequent phase 2 study was performed using selected phase 1 markers analyzed by RT-qPCR using a larger and independent casuistic (ACS-Ph2, n=74 and CG-Ph2, n=41). A total of 549 genes were found to be differentially expressed in the first 48 h after the ACS-Ph1. Technical and biological validation further confirmed that ALOX15, AREG, BCL2A1, BCL2L1, CA1, COX7B, ECHDC3, IL18R1, IRS2, KCNE1, MMP9, MYL4 and TREML4, are differentially expressed in both phases of this study.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Transcriptomic analysis by microarray technology demonstrated differential expression during a 48 h time course suggesting a potential use of some of these genes as biomarkers for very early stages of ACS, as well as for monitoring early cardiac ischemic recovery.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/23535507?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>47</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Silbiger, Vivian</style></author><author><style face="normal" font="default" size="100%">Luchessi, André</style></author><author><style face="normal" font="default" size="100%">Hirata, Rosario</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Brión, Maria</style></author><author><style face="normal" font="default" size="100%">Lima Neto, Lidio</style></author><author><style face="normal" font="default" size="100%">P. Pastorelli, C</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Montaner, David</style></author><author><style face="normal" font="default" size="100%">Garcia, F</style></author><author><style face="normal" font="default" size="100%">P. Sampaio, M</style></author><author><style face="normal" font="default" size="100%">P. Pereira, M</style></author><author><style face="normal" font="default" size="100%">S. Santos, E</style></author><author><style face="normal" font="default" size="100%">Armaganijan, Dikran</style></author><author><style face="normal" font="default" size="100%">Hirata, Mario</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Peripheral blood cells transcriptome to study new biomarkers for myocardial infarction follow up</style></title></titles><dates><year><style  face="normal" font="default" size="100%">2009</style></year><pub-dates><date><style  face="normal" font="default" size="100%">06</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">eng</style></language></record></records></xml>