karyoploteR: an R/Bioconductor package to plot customizable genomes displaying arbitrary data

por Gel, Bernat, Serra, Eduard
Publicado 2017

regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests

por Gel, Bernat, Díez-Villanueva, Anna, Serra, Eduard, Buschbeck, Marcus, Peinado, Miguel A., Malinverni, Roberto
Publicado 2016

Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors

por Garcia-Linares, Carles, Mercadé, Jaume, Gel, Bernat, Biayna, Josep, Terribas, Ernest, Lázaro, Conxi, Serra, Eduard
Publicado 2012

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2021

Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

por Catasús, Núria, Rosas, Inma, Bonache, Sandra, Negro, Alex, Torres-Martin, Miguel, Plana-Pla, Adrià, Salvador, Hector, Serra, Eduard, Blanco, Ignacio, Castellanos, Elisabeth
Publicado 2022

Fus3 generates negative feedback that improves information transmission in yeast pheromone response

por Yu, Richard C., Pesce, C. Gustavo, Colman-Lerner, Alejandro, Lok, Larry, Pincus, David, Serra, Eduard, Holl, Mark, Benjamin, Kirsten, Gordon, Andrew, Brent, Roger
Publicado 2008

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2020

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb

por Castellanos, Elisabeth, Bielsa, Isabel, Carrato, Cristina, Rosas, Imma, Solanes, Ares, Hostalot, Cristina, Amilibia, Emilio, Prades, José, Roca-Ribas, Francesc, Lázaro, Conxi, Blanco, Ignacio, Serra, Eduard
Publicado 2015

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

por Biayna, Josep, Mazuelas, Helena, Gel, Bernat, Terribas, Ernest, Dumbovic, Gabrijela, Rosas, Inma, Fernández-Rodriguez, Juana, Blanco, Ignacio, Castellanos, Elisabeth, Carrió, Meritxell, Lazaro, Conxi, Serra, Eduard
Publicado 2021

Dissecting Loss of Heterozygosity (LOH) in Neurofibromatosis Type 1-Associated Neurofibromas: Importance of Copy Neutral LOH

por Garcia-Linares, Carles, Fernández-Rodríguez, Juana, Terribas, Ernest, Mercadé, Jaume, Pros, Eva, Benito, Llúcia, Benavente, Yolanda, Capellà, Gabriel, Ravella, Anna, Blanco, Ignacio, Kehrer-Sawatzki, Hildegard, Lázaro, Conxi, Serra, Eduard
Publicado 2011

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

por Carrió, Meritxell, Mazuelas, Helena, Richaud-Patin, Yvonne, Gel, Bernat, Terribas, Ernest, Rosas, Imma, Jimenez-Delgado, Senda, Biayna, Josep, Vendredy, Leen, Blanco, Ignacio, Castellanos, Elisabeth, Lázaro, Conxi, Raya, Ángel, Serra, Eduard
Publicado 2019

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

por Carrió, Meritxell, Mazuelas, Helena, Richaud-Patin, Yvonne, Gel, Bernat, Terribas, Ernest, Rosas, Imma, Jimenez-Delgado, Senda, Biayna, Josep, Vendredy, Leen, Blanco, Ignacio, Castellanos, Elisabeth, Lázaro, Conxi, Raya, Ángel, Serra, Eduard
Publicado 2019

KIF11 and KIF15 mitotic kinesins are potential therapeutic vulnerabilities for malignant peripheral nerve sheath tumors

por Terribas, Ernest, Fernández, Marco, Mazuelas, Helena, Fernández-Rodríguez, Juana, Biayna, Josep, Blanco, Ignacio, Bernal, Gabriela, Ramos-Oliver, Irma, Thomas, Craig, Guha, Rajiv, Zhang, Xiaohu, Gel, Bernat, Romagosa, Cleofé, Ferrer, Marc, Lázaro, Conxi, Serra, Eduard
Publicado 2020

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

por Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
Publicado 2017

Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and genetic pathways driving tumorigenesis

por Rahrmann, Eric P, Watson, Adrienne L, Keng, Vincent W, Choi, Kwangmin, Moriarity, Branden S, Beckmann, Dominic A, Wolf, Natalie, Sarver, Aaron, Collins, Margaret H, Moertel, Christopher L, Wallace, Margaret R, Gel, Bernat, Serra, Eduard, Ratner, Nancy, Largaespada, David A
Publicado 2013

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

por Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
Publicado 2017

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

por Miller, Shyra J, Jessen, Walter J, Mehta, Tapan, Hardiman, Atira, Sites, Emily, Kaiser, Sergio, Jegga, Anil G, Li, Hua, Upadhyaya, Meena, Giovannini, Marco, Muir, David, Wallace, Margaret R, Lopez, Eva, Serra, Eduard, Nielsen, G Petur, Lazaro, Conxi, Stemmer-Rachamimov, Anat, Page, Grier, Aronow, Bruce J, Ratner, Nancy
Publicado 2009

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine

por Castellsagué, Joan, Gel, Bernat, Fernández-Rodríguez, Juana, Llatjós, Roger, Blanco, Ignacio, Benavente, Yolanda, Pérez-Sidelnikova, Diana, García-del Muro, Javier, Viñals, Joan Maria, Vidal, August, Valdés-Mas, Rafael, Terribas, Ernest, López-Doriga, Adriana, Pujana, Miguel Angel, Capellá, Gabriel, Puente, Xose S, Serra, Eduard, Villanueva, Alberto, Lázaro, Conxi
Publicado 2015

Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor

por Fernández-Rodríguez, Juana, Morales La Madrid, Andrés, Gel, Bernat, Castañeda Heredia, Alicia, Salvador, Héctor, Martínez-Iniesta, María, Moutinho, Catia, Morata, Jordi, Heyn, Holger, Blanco, Ignacio, Creus-Bachiller, Edgar, Capella, Gabriel, Farré, Lourdes, Vidal, August, Soldado, Francisco, Krauel, Lucas, Suñol, Mariona, Serra, Eduard, Villanueva, Alberto, Lázaro, Conxi
Publicado 2020

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

por Magallón-Lorenz, Miriam, Terribas, Ernest, Ortega-Bertran, Sara, Creus-Bachiller, Edgar, Fernández, Marco, Requena, Gerard, Rosas, Inma, Mazuelas, Helena, Uriarte-Arrazola, Itziar, Negro, Alex, Lausová, Tereza, Castellanos, Elisabeth, Blanco, Ignacio, DeVries, George, Kawashima, Hiroyuki, Legius, Eric, Brems, Hilde, Mautner, Viktor, Kluwe, Lan, Ratner, Nancy, Wallace, Margaret, Fernández-Rodriguez, Juana, Lázaro, Conxi, Fletcher, Jonathan A., Reuss, David, Carrió, Meritxell, Gel, Bernat, Serra, Eduard
Publicado 2023