Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment

por Grabenstetter, Anne, Lazaro, Conxi, Turashvili, Gulisa
Publicado 2020

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

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

por Caleca, Laura, Colombo, Mara, van Overeem Hansen, Thomas, Lázaro, Conxi, Manoukian, Siranoush, Parsons, Michael T., Spurdle, Amanda B., Radice, Paolo
Publicado 2019

Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer

por Seguí, Nuria, Guinó, Elisabet, Pineda, Marta, Navarro, Matilde, Bellido, Fernando, Lázaro, Conxi, Blanco, Ignacio, Moreno, Victor, Capellá, Gabriel, Valle, Laura
Publicado 2014

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

Telomere Length and Genetic Anticipation in Lynch Syndrome

por Seguí, Nuria, Pineda, Marta, Guinó, Elisabet, Borràs, Ester, Navarro, Matilde, Bellido, Fernando, Moreno, Victor, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel, Valle, Laura
Publicado 2013

Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements

por Turashvili, Gulisa, Lazaro, Conxi, Ying, Shengjie, Charames, George, Wong, Andrew, Hamilton, Krista, Yee, Denise, Agro, Evangeline, Chang, Martin, Pollett, Aaron, Lerner-Ellis, Jordan
Publicado 2020

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

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

por Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, de Cid, Rafael, Gómez, Carolina, Montes, Eva, Capellá, Gabriel, Brunet, Joan, del Valle, Jesús, Lázaro, Conxi
Publicado 2021

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

Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

por Quiles, Francisco, Fernández-Rodríguez, Juana, Mosca, Roberto, Feliubadaló, Lídia, Tornero, Eva, Brunet, Joan, Blanco, Ignacio, Capellá, Gabriel, Pujana, Miquel Àngel, Aloy, Patrick, Monteiro, Alvaro, Lázaro, Conxi
Publicado 2013

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

por Munté, Elisabet, Feliubadaló, Lidia, Pineda, Marta, Tornero, Eva, Gonzalez, Maribel, Moreno-Cabrera, José Marcos, Roca, Carla, Bales Rubio, Joan, Arnaldo, Laura, Capellá, Gabriel, Mosquera, Jose Luis, Lázaro, Conxi
Publicado 2023

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

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

por Belhadj, Sami, Quintana, Isabel, Mur, Pilar, Munoz-Torres, Pau M., Alonso, M. Henar, Navarro, Matilde, Terradas, Mariona, Piñol, Virginia, Brunet, Joan, Moreno, Victor, Lázaro, Conxi, Capellá, Gabriel, Valle, Laura
Publicado 2019

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

por Mur, Pilar, Elena, Sánchez-Cuartielles, Aussó, Susanna, Aiza, Gemma, Rafael, Valdés-Mas, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Publicado 2016

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

por Mur, Pilar, Sánchez-Cuartielles, Elena, Aussó, Susanna, Aiza, Gemma, Valdés-Mas, Rafael, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Publicado 2016

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

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

por Fernández-Rodríguez, Juana, Quiles, Francisco, Blanco, Ignacio, Teulé, Alex, Feliubadaló, Lídia, Valle, Jesús del, Salinas, Mónica, Izquierdo, Àngel, Darder, Esther, Schindler, Detlev, Capellá, Gabriel, Brunet, Joan, Lázaro, Conxi, Pujana, Miguel Angel
Publicado 2012