Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors
Rivera, Barbara, Castellsagué, Ester, Bah, Ismaël, Foulkes, William D, van Kempen, Léon C
Published in The New England journal of medicine (12.11.2015)
Published in The New England journal of medicine (12.11.2015)
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Journal Article
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
Feliubadaló, Lídia, Lopez-Doriga, Adriana, Castellsagué, Ester, del Valle, Jesús, Menéndez, Mireia, Tornero, Eva, Montes, Eva, Cuesta, Raquel, Gómez, Carolina, Campos, Olga, Pineda, Marta, González, Sara, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi
Published in European journal of human genetics : EJHG (01.08.2013)
Published in European journal of human genetics : EJHG (01.08.2013)
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Journal Article
Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer
Chen, Owen J, Castellsagué, Ester, Moustafa-Kamal, Mohamed, Nadaf, Javad, Rivera, Barbara, Fahiminiya, Somayyeh, Wang, Yilin, Gamache, Isabelle, Pacifico, Caterina, Jiang, Lai, Carrot-Zhang, Jian, Witkowski, Leora, Berghuis, Albert M, Schönberger, Stefan, Schneider, Dominik, Hillmer, Morten, Bens, Susanne, Siebert, Reiner, Stewart, Colin J R, Zhang, Ziguo, Chao, William C H, Greenwood, Celia M T, Barford, David, Tischkowitz, Marc, Majewski, Jacek, Foulkes, William D, Teodoro, Jose G
Published in Cancer research (Chicago, Ill.) (04.10.2022)
Published in Cancer research (Chicago, Ill.) (04.10.2022)
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Journal Article
Colorectal Adenomas
Castellsagué, Ester, Rivera, Barbara, Foulkes, William D
Published in The New England journal of medicine (28.07.2016)
Published in The New England journal of medicine (28.07.2016)
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Journal Article
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures
Castellsagué, Ester, Li, Rui, Aligue, Rosa, González, Sara, Sanz, Judit, Martin, Edgar, Velasco, Àngela, Capellá, Gabriel, Stewart, Colin J. R., Vidal, August, Majewski, Jacek, Rivera, Barbara, Polak, Paz, Matias‐Guiu, Xavier, Brunet, Joan, Foulkes, William D.
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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Journal Article
Allele-specific expression of APC in adenomatous polyposis families
Castellsagué, Ester, González, Sara, Guinó, Elisabet, Stevens, Kristen N, Borràs, Ester, Raymond, Victoria M, Lázaro, Conxi, Blanco, Ignacio, Gruber, Stephen B, Capellá, Gabriel
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2010)
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2010)
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Journal Article
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Witkowski, Leora, Carrot-Zhang, Jian, Albrecht, Steffen, Fahiminiya, Somayyeh, Hamel, Nancy, Tomiak, Eva, Grynspan, David, Saloustros, Emmanouil, Nadaf, Javad, Rivera, Barbara, Gilpin, Catherine, Castellsagué, Ester, Silva-Smith, Rachel, Plourde, François, Wu, Mona, Saskin, Avi, Arseneault, Madeleine, Karabakhtsian, Rouzan G, Reilly, Elizabeth A, Ueland, Frederick R, Margiolaki, Anna, Pavlakis, Kitty, Castellino, Sharon M, Lamovec, Janez, Mackay, Helen J, Roth, Lawrence M, Ulbright, Thomas M, Bender, Tracey A, Georgoulias, Vassilis, Longy, Michel, Berchuck, Andrew, Tischkowitz, Marc, Nagel, Inga, Siebert, Reiner, Stewart, Colin J R, Arseneau, Jocelyne, McCluggage, W Glenn, Clarke, Blaise A, Riazalhosseini, Yasser, Hasselblatt, Martin, Majewski, Jacek, Foulkes, William D
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Detection of APC Gene Deletions Using Quantitative Multiplex PCR of Short Fluorescent Fragments
Castellsague, Ester, Gonzalez, Sara, Nadal, Marga, Campos, Olga, Guino, Elisabet, Urioste, Miguel, Blanco, Ignacio, Frebourg, Thierry, Capella, Gabriel
Published in Clinical chemistry (Baltimore, Md.) (01.07.2008)
Published in Clinical chemistry (Baltimore, Md.) (01.07.2008)
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Journal Article
Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy
Matis, Thibaut, Domecq, Celine, Hamel, Nancy, Castellsagué, Ester, Lopez-Doriga, Adriana, Marotta, Stephen, Zauber, Peter, Foulkes, William D.
Published in BJC reports (05.03.2024)
Published in BJC reports (05.03.2024)
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Journal Article
Colorectal Adenomas
Pericàs, Juan M, Corredoira, Juan, Miró, José M, Itzkowitz, Steven H, Ahlquist, David A, Castellsagué, Ester, Rivera, Barbara, Foulkes, William D, Strum, Williamson B
Published in The New England journal of medicine (28.07.2016)
Published in The New England journal of medicine (28.07.2016)
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Abstract 4445: Defining a pipeline to use next generation sequencing for genetic testing in hereditary cancer
Lazaro, Conxi, López-Doriga, Adriana, Castellsagué, Ester, del Valle, Jesús, Tornero, Eva, Moreno, Víctor, Pineda, Marta, González, Sara, Feliubadaló, Lídia, Capellá, Gabriel
Published in Cancer research (Chicago, Ill.) (15.04.2012)
Published in Cancer research (Chicago, Ill.) (15.04.2012)
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Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Witkowski, Leora, Carrot-Zhang, Jian, Albrecht, Steffen, Hamel, Nancy, Tomiak, Eva, Grynspan, David, Saloustros, Emmanouil, Gilpin, Catherine, Silva-Smith, Rachel, Plourde, François, Rivera, Barbara, Castellsagué, Ester, Wu, Mona, Fahiminiya, Somayyeh, Nadaf, Javad, Saskin, Avi, Arseneault, Madeleine, Karabakhtsian, Rouzan G., Reilly, Elizabeth A., Ueland, Frederick R., Margiolaki, Anna, Pavlakis, Kitty, Castellino, Sharon M., Lamovec, Janez, Roth, Lawrence M., Ulbright, Thomas M., Bender, Tracey, Longy, Michel, Berchuck, Andrew, Tischkowitz, Marc, Siebert, Reiner, Nagel, Inga, Georgoulias, Vassilis, Stewart, Colin J.r., McCluggage, Glenn, Arseneau, Jocelyne, Clarke, Blaise A., Riazalhosseini, Yasser, Hasselblatt, Martin, Majewski, Jacek, Foulkes, William D.
Published in Cancer research (Chicago, Ill.) (01.10.2014)
Published in Cancer research (Chicago, Ill.) (01.10.2014)
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Abstract PR13: Germ-line mutations in CDC20 result in familial cancers via deregulation of the cell cycle
Castellsague, Ester, Carrot-Zhang, Jian, Gamache, Isabelle, Rivera, Barbara, Moustafa, Mohamed, Barford, David, Majewski, Jacek, Teodoro, Jose, Foulkes, William David
Published in Molecular cancer research (01.11.2016)
Published in Molecular cancer research (01.11.2016)
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