1. Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation. Issue 1 (December 2017) Authors: Solis-Moruno, Manuel; de Manuel, Marc; Hernandez-Rodriguez, Jessica; Fontsere, Claudia; Gomara-Castaño, Alba; Valsera-Naranjo, Cristina; Crailsheim, Dietmar; Navarro, Arcadi; Llorente, Miquel; Riera, Laura; Feliu-Olleta, Olga; Marques-Bonet, Tomas Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Effect of Collapsed Duplications on Diversity Estimates: What to Expect. (26th October 2018) Authors: Hartasánchez, Diego A; Brasó-Vives, Marina; Heredia-Genestar, Jose Maria; Pybus, Marc; Navarro, Arcadi Editors: McLysaght, Aoife Journal: Genome biology and evolution Issue: Volume 10:Number 11(2018:Nov.) Page Start: 2899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A pharmacogenetic study implicates NINJ2 in the response to Interferon-β in multiple sclerosis. (August 2020) Authors: Peroni, Silvia; Sorosina, Melissa; Malhotra, Sunny; Clarelli, Ferdinando; Osiceanu, Ana Maria; Ferrè, Laura; Roostaei, Tina; Rio, Jordi; Midaglia, Luciana; Villar, Luisa María; Álvarez-Cermeño, José Carlos; Guaschino, Clara; Radaelli, Marta; Citterio, Lorena; Lechner-Scott, Jeannette; Spataro, Ni... Journal: Multiple sclerosis Issue: Volume 26:Number 9(2020) Page Start: 1074 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes. Issue 7 (1st April 2020) Authors: Gil‐Varea, Elia; Spataro, Nino; Villar, Luisa María; Tejeda‐Velarde, Amalia; Midaglia, Luciana; Matesanz, Fuencisla; Malhotra, Sunny; Eixarch, Herena; Patsopoulos, Nikolaos; Fernández, Óscar; Oliver‐Martos, Begoña; Saiz, Albert; Llufriu, Sara; Ramió‐Torrentà, Lluís; Quintana, Ester; Izquierdo, Gu... Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis. Issue 1 (17th November 2012) Authors: Alcina, Antonio; Fedetz, Maria; Fernández, Óscar; Saiz, Albert; Izquierdo, Guillermo; Lucas, Miguel; Leyva, Laura; García-León, Juan-Antonio; Abad-Grau, María del Mar; Alloza, Iraide; Antigüedad, Alfredo; Garcia-Barcina, María J; Vandenbroeck, Koen; Varadé, Jezabel; de la Hera, Belén; Arroyo, Raf... Journal: Journal of medical genetics Issue: Volume 50:Issue 1(2013) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Single-cell Transcriptional Changes in Neurodegenerative Diseases. (15th December 2021) Authors: Ahmadi, Amirhossein; Gispert, Juan D.; Navarro, Arcadi; Vilor-Tejedor, Natalia; Sadeghi, Iman Journal: Neuroscience Issue: Volume 479(2021) Page Start: 192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A quality control portal for sequencing data deposited at the European genome–phenome archive. Issue 3 (18th April 2022) Authors: Fernández-Orth, Dietmar; Rueda, Manuel; Singh, Babita; Moldes, Mauricio; Jene, Aina; Ferri, Marta; Vasallo, Claudia; Fromont, Lauren A; Navarro, Arcadi; Rambla, Jordi Journal: Briefings in bioinformatics Issue: Volume 23:Issue 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond. Issue 6 (8th April 2022) Authors: Rambla, Jordi; Baudis, Michael; Ariosa, Roberto; Beck, Tim; Fromont, Lauren A.; Navarro, Arcadi; Paloots, Rahel; Rueda, Manuel; Saunders, Gary; Singh, Babita; Spalding, John D.; Törnroos, Juha; Vasallo, Claudia; Veal, Colin D.; Brookes, Anthony J. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Sex differences in genetic susceptibility of hippocampal subfields: A polygenic association study. (December 2021) Authors: Genius, Patricia; Arenaza‐Urquijo, Eider M.; Operto, Greg; Evans, Tavia E.; Brugulat‐Serrat, Anna; Falcon, Carles; Minguillón, Carolina; Fauria, Karine; Adams, Hieab H.H.; de Moura, Manuel Castro; Piñeyro, David; Esteller, Manel; Guigó, Roderic; Navarro, Arcadi; Molinuevo, Jose; Gispert, Juan Dom... Journal: Alzheimer's & dementia Issue: Volume 17(2021)Supplement 4 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The European Genome-phenome Archive in 2021. Issue Volume 50:Issue D1(2022) (17th November 2021) Authors: Freeberg, Mallory Ann; Fromont, Lauren A; D'Altri, Teresa; Romero, Anna Foix; Ciges, Jorge Izquierdo; Jene, Aina; Kerry, Giselle; Moldes, Mauricio; Ariosa, Roberto; Bahena, Silvia; Barrowdale, Daniel; Barbero, Marcos Casado; Fernandez-Orth, Dietmar; Garcia-Linares, Carles; Garcia-Rios, ... Journal: Nucleic acids research Issue: Volume 50:Issue D1(2022) Page Start: D980 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗