Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis
Vargas-Parra, Gardenia M, González-Acosta, Maribel, Thompson, Bryony A, Gómez, Carolina, Fernández, Anna, Dámaso, Estela, Pons, Tirso, Morak, Monika, Del Valle, Jesús, Iglesias, Silvia, Velasco, Àngela, Solanes, Ares, Sanjuan, Xavier, Padilla, Natàlia, de la Cruz, Xavier, Valencia, Alfonso, Holinski-Feder, Elke, Brunet, Joan, Feliubadaló, Lídia, Lázaro, Conxi, Navarro, Matilde, Pineda, Marta, Capellá, Gabriel
Published in International journal of cancer (01.10.2017)
Published in International journal of cancer (01.10.2017)
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Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients
Vargas‐Parra, Gardenia, Valle, Jesús, Rofes, Paula, Gausachs, Mireia, Stradella, Agostina, Moreno‐Cabrera, José M., Velasco, Angela, Tornero, Eva, Menéndez, Mireia, Muñoz, Xavier, Iglesias, Silvia, López‐Doriga, Adriana, Azuara, Daniel, Campos, Olga, Cuesta, Raquel, Darder, Esther, Cid, Rafael, González, Sara, Teulé, Alex, Navarro, Matilde, Brunet, Joan, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lídia, Lázaro, Conxi
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19
Solanich, Xavier, Vargas-Parra, Gardenia, van der Made, Caspar I., Simons, Annet, Schuurs-Hoeijmakers, Janneke, Antolí, Arnau, del Valle, Jesús, Rocamora-Blanch, Gemma, Setién, Fernando, Esteller, Manel, van Reijmersdal, Simon V., Riera-Mestre, Antoni, Sabater-Riera, Joan, Capellá, Gabriel, van de Veerdonk, Frank L., van der Hoven, Ben, Corbella, Xavier, Hoischen, Alexander, Lázaro, Conxi
Published in Frontiers in immunology (23.07.2021)
Published in Frontiers in immunology (23.07.2021)
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Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance
Gorka Ruiz de Garibay, Mateo, Francesca, Stradella, Agostina, Valdés-Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A, Díaz-Navarro, Ander, Vargas-Parra, Gardenia, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal, August, Petit, Anna, Soler, Teresa, Lázaro, Conxi, Puente, Xose S, Villanueva, Alberto, Pujana, Miguel Angel
Published in Disease models & mechanisms (01.05.2018)
Published in Disease models & mechanisms (01.05.2018)
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Journal Article
MLH1 methylation screening is effective in identifying epimutation carriers
PINEDA, Marta, MUR, Pilar, BRUNET, Joan, NAVARRO, Matilde, BLANCO, Ignacio, CAPELLA, Gabriel, INIESTA, Maria Dolores, BORRAS, Ester, CAMPOS, Olga, VARGAS, Gardenia, IGLESIAS, Silvia, FERNANDEZ, Anna, GRUBER, Stephen B, LAZARO, Conxi
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
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New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
Valle, Laura, Hernández-Illán, Eva, Bellido, Fernando, Aiza, Gemma, Castillejo, Adela, Castillejo, María-Isabel, Navarro, Matilde, Seguí, Nuria, Vargas, Gardenia, Guarinos, Carla, Juarez, Miriam, Sanjuán, Xavier, Iglesias, Silvia, Alenda, Cristina, Egoavil, Cecilia, Segura, Ángel, Juan, María-José, Rodriguez-Soler, María, Brunet, Joan, González, Sara, Jover, Rodrigo, Lázaro, Conxi, Capellá, Gabriel, Pineda, Marta, Soto, José Luís, Blanco, Ignacio
Published in Human molecular genetics (01.07.2014)
Published in Human molecular genetics (01.07.2014)
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Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Stradella, Agostina, del Valle, Jesús, Rofes, Paula, Feliubadaló, Lídia, Grau Garces, Èlia, Velasco, Àngela, González, Sara, Vargas, Gardenia, Izquierdo, Ángel, Campos, Olga, Tornero, Eva, Navarro, Matilde, Balmaña-Gelpi, Judith, Capellá, Gabriel, Pineda, Marta, Brunet, Joan, Lázaro, Conxi
Published in Journal of medical genetics (01.08.2019)
Published in Journal of medical genetics (01.08.2019)
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Journal Article
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients
Castillejo, Adela, Vargas, Gardenia, Castillejo, María Isabel, Navarro, Matilde, Barberá, Víctor Manuel, González, Sara, Hernández-Illán, Eva, Brunet, Joan, Ramón y Cajal, Teresa, Balmaña, Judith, Oltra, Silvestre, Iglesias, Sílvia, Velasco, Àngela, Solanes, Ares, Campos, Olga, Sánchez Heras, Ana Beatriz, Gallego, Javier, Carrasco, Estela, González Juan, Dolors, Segura, Ángel, Chirivella, Isabel, Juan, María José, Tena, Isabel, Lázaro, Conxi, Blanco, Ignacio, Pineda, Marta, Capellá, Gabriel, Soto, José Luis
Published in European journal of cancer (1990) (01.09.2014)
Published in European journal of cancer (1990) (01.09.2014)
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Reis, R. M.
Published in Human mutation (01.09.2019)
Published in Human mutation (01.09.2019)
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Journal Article
947 Multicenter study to validate and implement SOPHiA DDM HRD solution for enhanced molecular diagnosis of ovarian cancer
Vargas-Parra, Gardenia, Sesé, Marta, Hernández-Illán, Eva, Camacho, Laura, Somoza, Rosa, López, Vanessa, Teixido, Cristina, Jares, Pedro, Losa, Javier Hernández, Bellosillo, Beatriz
Published in International journal of gynecological cancer (10.03.2024)
Published in International journal of gynecological cancer (10.03.2024)
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Journal Article
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients
Del Valle, Jesús, Rofes, Paula, Moreno-Cabrera, José Marcos, López-Dóriga, Adriana, Belhadj, Sami, Vargas-Parra, Gardenia, Teulé, Àlex, Cuesta, Raquel, Muñoz, Xavier, Campos, Olga, Salinas, Mónica, de Cid, Rafael, Brunet, Joan, González, Sara, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lídia, Lázaro, Conxi
Published in Cancers (30.03.2020)
Published in Cancers (30.03.2020)
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ERCC3, a new ovarian cancer susceptibility gene?
Stradella, Agostina, del Valle, Jesús, Rofes, Paula, Vargas-Parra, Gardenia, Salinas, Mónica, González, Sara, Montes, Eva, López-Doriga, Adriana, Gómez, Carolina, de Cid, Rafael, Darder, Esther, Teulé, Alex, Solanes, Ares, Munté, Elisabet, Capellà, Gabriel, Pineda, Marta, Feliubadaló, Lidia, Brunet, Joan, Lázaro, Conxi
Published in European journal of cancer (1990) (01.12.2020)
Published in European journal of cancer (1990) (01.12.2020)
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Journal Article
Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition
Bonjoch, Laia, Mur, Pilar, Arnau-Collell, Coral, Vargas-Parra, Gardenia, Shamloo, Bahar, Franch-Expósito, Sebastià, Pineda, Marta, Capellà, Gabriel, Erman, Batu, Castellví-Bel, Sergi
Published in Molecular aspects of medicine (01.10.2019)
Published in Molecular aspects of medicine (01.10.2019)
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Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines
Rofes, Paula, Menéndez, Mireia, González, Sara, Tornero, Eva, Gómez, Carolina, Vargas-Parra, Gardenia, Montes, Eva, Salinas, Mónica, Solanes, Ares, Brunet, Joan, Teulé, Alex, Capellá, Gabriel, Feliubadaló, Lídia, Del Valle, Jesús, Pineda, Marta, Lázaro, Conxi
Published in The Journal of molecular diagnostics : JMD (01.12.2020)
Published in The Journal of molecular diagnostics : JMD (01.12.2020)
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Journal Article
Improving Genetic Testing in Hereditary Cancer by RNA Analysis
Rofes, Paula, Menéndez, Mireia, González, Sara, Tornero, Eva, Gómez, Carolina, Vargas-Parra, Gardenia, Montes, Eva, Salinas, Mónica, Solanes, Ares, Brunet, Joan, Teulé, Alex, Capellá, Gabriel, Feliubadaló, Lídia, del Valle, Jesús, Pineda, Marta, Lázaro, Conxi
Published in The Journal of molecular diagnostics : JMD (01.12.2020)
Published in The Journal of molecular diagnostics : JMD (01.12.2020)
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Journal Article
Identification of Two Novel IEPOR/I Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review
Lo Riso, Laura, Vargas-Parra, Gardenia, Navarro, Gemma, Arenillas, Leonor, Fernández-Ibarrondo, Lierni, Robredo, Beatriz, Ballester, Carmen, López, Bernardo, Perez-Montaña, Albert, Sampol, Antonia, Florensa, Lourdes, Besses, Carles, Duran, María Antonia, Bellosillo, Beatriz
Published in Genes (01.09.2022)
Published in Genes (01.09.2022)
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Journal Article
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review
Lo Riso, Laura, Vargas-Parra, Gardenia, Navarro, Gemma, Arenillas, Leonor, Fernández-Ibarrondo, Lierni, Robredo, Beatriz, Ballester, Carmen, López, Bernardo, Perez-Montaña, Albert, Sampol, Antonia, Florensa, Lourdes, Besses, Carles, Duran, María Antonia, Bellosillo, Beatriz
Published in Genes (20.09.2022)
Published in Genes (20.09.2022)
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Journal Article
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals
Dámaso, Estela, González-Acosta, Maribel, Vargas-Parra, Gardenia, Navarro, Matilde, Balmaña, Judith, Ramon Y Cajal, Teresa, Tuset, Noemí, Thompson, Bryony A, Marín, Fátima, Fernández, Anna, Gómez, Carolina, Velasco, Àngela, Solanes, Ares, Iglesias, Sílvia, Urgel, Gisela, López, Consol, Del Valle, Jesús, Campos, Olga, Santacana, Maria, Matias-Guiu, Xavier, Lázaro, Conxi, Valle, Laura, Brunet, Joan, Pineda, Marta, Capellá, Gabriel
Published in Cancers (05.07.2020)
Published in Cancers (05.07.2020)
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Journal Article
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation
Dámaso, Estela, Canet-Hermida, Júlia, Vargas-Parra, Gardenia, Velasco, Àngela, Marín, Fátima, Darder, Esther, Del Valle, Jesús, Fernández, Anna, Izquierdo, Àngel, Mateu, Gemma, Oliveras, Glòria, Escribano, Carmen, Piñol, Virgínia, Uchima, Hugo-Ikuo, Soto, José Luis, Hitchins, Megan, Farrés, Ramon, Lázaro, Conxi, Queralt, Bernat, Brunet, Joan, Capellá, Gabriel, Pineda, Marta
Published in Clinical epigenetics (28.11.2019)
Published in Clinical epigenetics (28.11.2019)
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Journal Article
Tumor xenograft modeling identifies TCF4/ITF2 loss associated with breast cancer chemoresistance
de Garibay, Gorka Ruiz, Mateo, Francesca, Stradella, Agostina, Valdés-Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A, Díaz-Navarro, Ander, Vargas-Parra, Gardenia, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal, August, Petit, Anna, Soler, Teresa, Lázaro, Conxi, Puente, Xose S, Villanueva, Alberto, Pujana, Miguel Angel
Published in Disease models & mechanisms (13.04.2018)
Published in Disease models & mechanisms (13.04.2018)
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