Browsing by Author Valle Domínguez, Jesús del
Showing results 1 to 12 of 12
Issue Date | Title | Author(s) |
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4-Jan-2017 | A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape | Castellanos, Elisabeth; Gel, Bernat; Rosas, Inma; Tornero, Eva; Santín, Sheila; Pluvinet Ortega, Raquel; Velasco, Juan; Sumoy, Lauro; Valle Domínguez, Jesús del; Perucho, Manuel; Blanco Guillermo, Ignacio; Navarro, Matilde; Brunet, Joan; Pineda Riu, Marta; Feliubadaló i Elorza, Maria Lídia; Capellá, G. (Gabriel); Lázaro García, Conxi; Serra Arenas, Eduard |
25-Apr-2015 | An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers | Teulé-Vega, Àlex; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Valle Domínguez, Jesús del; COGS (Collaborative Oncological Gene-environment Study); CIMBA Consortium; EMBRACE Collaborators; HEBON Investigators; GEMO Study Collaborators; CONSIT Team (CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella, Italy) |
11-Mar-2012 | Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families | Fernández Rodríguez, Juana; Quiles Vidal, Francisco de Asís; Blanco Guillermo, Ignacio; Teulé-Vega, Àlex; Feliubadaló i Elorza, Maria Lídia; Valle Domínguez, Jesús del; Salinas Masdeu, Mònica; Izquierdo i Font, Àngel Xavier; Darder, Esther; Schindler, Detlev; Capellá, G. (Gabriel); Brunet, Joan; Lázaro García, Conxi; Pujana Genestar, M. Ángel |
4-Jan-2017 | Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer | Feliubadaló i Elorza, Maria Lídia; Tonda, Raul; Gausachs Romero, Mireia; Trotta, Jean Rémi; Castellanos, Elisabeth; López Dóriga Guerra, Adriana; Teulé-Vega, Àlex; Tornero, Eva; Valle Domínguez, Jesús del; Gel, Bernat; Gut, Marta; Pineda Riu, Marta; González, Sara; Menéndez Vilà, Mireia; Navarro, Matilde; Capellá, G. (Gabriel); Gut, Ivo G.; Serra Arenas, Eduard; Brunet, Joan; Beltran i Agulló, Sergi; Lázaro García, Conxi |
28-Jul-2021 | Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores | Barnes, Daniel R.; Angel Pujana, Miquel; Teulé Vega, Àlex; Balmaña, Judith; GEMO Study Collaborators; EMBRACE Collaborators; KConFab Investigators; HEBON Investigators; Consortium Of Investigators Of Modifiers Of Brca1 And Brca2, The; Brunet, Joan; Darder, Esther; Valle Domínguez, Jesús del; Diez, Orland; Feliubadaló i Elorza, Maria Lídia; Izquierdo, Angel; Lázaro García, Conxi; López Fernández, Adrià |
1-Dec-2020 | Evaluation of CNV detection tools for NGS panel data in genetic diagnostics | Moreno Cabrera, José Marcos; Valle Domínguez, Jesús del; Castellanos, Elisabeth; Feliubadaló i Elorza, Maria Lídia; Pineda Riu, Marta; Brunet, Joan; Serra, Eduard; Capellá, G. (Gabriel); Lázaro García, Conxi; Gel, Bernat |
31-Mar-2022 | Genetic approaches to improve hereditary cancer diagnosis based on next-generation sequencing data | Rofes Terrón, Paula |
28-Nov-2019 | Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation | Dámaso, Estela; Canet Hermida, Júlia; Vargas Parra, Gardenía María; Velasco, Àngela; Marín, Fátima; Darder, Esther; Valle Domínguez, Jesús del; Fernández, Anna; Izquierdo i Font, Àngel Xavier; Mateu, Gemma; Oliveras, Glòria; Escribano, Carmen; Piñol, Virgínia; Uchima, Hugo Ikuo; Soto, José Luis; Hitchins, Megan; Farrés, Ramon; Lázaro García, Conxi; Queralt, Bernat; Brunet, Joan; Capellá, G. (Gabriel); Pineda Riu, Marta |
1-Aug-2024 | Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data | Munté, Elisabet; Feliubadaló, Lídia; Valle Domínguez, Jesús del; González, Sara; Ramos Muntada, Mireia; Balmaña, Judith; Ramon y Cajal, Teresa; Tuset, Noemí; Llort Pursals, Gemma; Cadiñanos, Juan; Brunet, Joan; Capellá, G. (Gabriel); Lázaro García, Conxi; Pineda Riu, Marta |
Oct-2018 | Primary constitutional MLH1 epimutations: a focal epigenetic event | Dámaso, Estela; Castillejo, Adela; Arias, María del Mar; Canet Hermida, Júlia; Navarro, Matilde; Valle Domínguez, Jesús del; Campos, Olga; Fernández, Anna; Marín, Fátima; Turchetti, Daniela; García Díaz, Juan de Dios; Lázaro García, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Ángel; Soto, Jose Luis; Hitchins, Megan; Pineda Riu, Marta; Capellá, G. (Gabriel) |
28-Apr-2021 | The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals | Carrato, Cristina; Sanz, Carolina; Muñoz Mármol, Ana María; Blanco Guillermo, Ignacio; Pineda Riu, Marta; Valle Domínguez, Jesús del; Dámaso, Estela; Esteller, Manel; Musulén, Eva |
1-Feb-2020 | The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases | Brunet, Joan; Darder, Esther; Valle Domínguez, Jesús del; Lázaro García, Conxi; ENIGMA Consortium; GENESIS Study Collaborators; SWE-BRCA Group |