Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment
Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H, Gilissen, Christian, Reader, Rose H, Jara, Lillian, Echeverry, María Magdalena, Echeverry, Maria Magdalena, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O'Hare, Anne, Bolton, Patrick F, Hennessy, Elizabeth R, Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A, Cazier, Jean-Baptiste, De Barbieri, Zulema, Fisher, Simon E, Newbury, Dianne F
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk
Painter, Jodie N, O'Mara, Tracy A, Batra, Jyotsna, Cheng, Timothy, Lose, Felicity A, Dennis, Joe, Michailidou, Kyriaki, Tyrer, Jonathan P, Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S, Kaufmann, Susanne, Hillman, Kristine M, Walpole, Carina, Moya, Leire, Pollock, Pamela, Jones, Angela, Howarth, Kimberley, Martin, Lynn, Gorman, Maggie, Hodgson, Shirley, De Polanco, Ma Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Santos, Erika, Teixeira, Manuel R, Carvajal-Carmona, Luis, Shu, Xiao-Ou, Long, Jirong, Zheng, Wei, Xiang, Yong-Bing, Montgomery, Grant W, Webb, Penelope M, Scott, Rodney J, McEvoy, Mark, Attia, John, Holliday, Elizabeth, Martin, Nicholas G, Nyholt, Dale R, Henders, Anjali K, Fasching, Peter A, Hein, Alexander, Beckmann, Matthias W, Renner, Stefan P, Dörk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo, Lambrechts, Diether, Coenegrachts, Lieve, Schrauwen, Stefanie, Amant, Frederic, Winterhoff, Boris, Dowdy, Sean C, Goode, Ellen L, Teoman, Attila, Salvesen, Helga B, Trovik, Jone, Njolstad, Tormund S, Werner, Henrica M J, Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Tzortzatos, Gerasimos, Mints, Miriam, Tham, Emma, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Jingmei, Hopper, John L, Southey, Melissa C, Ekici, Arif B, Ruebner, Matthias, Johnson, Nicola, Peto, Julian, Burwinkel, Barbara, Marme, Frederik, Brenner, Hermann, Dieffenbach, Aida K, Meindl, Alfons, Brauch, Hiltrud, Lindblom, Annika, Depreeuw, Jeroen, Moisse, Matthieu, Chang-Claude, Jenny, Rudolph, Anja, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Bruinsma, Fiona, Cunningham, Julie M, Fridley, Brooke L, Børresen-Dale, Anne-Lise, Kristensen, Vessela N, Cox, Angela, Swerdlow, Anthony J, Orr, Nicholas
Published in Human molecular genetics (01.03.2015)
Published in Human molecular genetics (01.03.2015)
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Identification of novel common breast cancer risk variants at the 6q25 locus among Latinas
Hoffman, Joshua, Fejerman, Laura, Hu, Donglei, Huntsman, Scott, Li, Min, John, Esther M, Torres-Mejia, Gabriela, Kushi, Larry, Ding, Yuan Chun, Weitzel, Jeffrey, Neuhausen, Susan L, Lott, Paul, Echeverry, Magdalena, Carvajal-Carmona, Luis, Burchard, Esteban, Eng, Celeste, Long, Jirong, Zheng, Wei, Olopade, Olufunmilayo, Huo, Dezheng, Haiman, Christopher, Ziv, Elad
Published in Breast cancer research : BCR (14.01.2019)
Published in Breast cancer research : BCR (14.01.2019)
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Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25
Fejerman, Laura, Ahmadiyeh, Nasim, Hu, Donglei, Huntsman, Scott, Beckman, Kenneth B., Caswell, Jennifer L., Tsung, Karen, John, Esther M., Torres-Mejia, Gabriela, Carvajal-Carmona, Luis, Echeverry, María Magdalena, Tuazon, Anna Marie D., Ramirez, Carolina, Gignoux, Christopher R., Eng, Celeste, Gonzalez-Burchard, Esteban, Henderson, Brian, Marchand, Loic Le, Kooperberg, Charles, Hou, Lifang, Agalliu, Ilir, Kraft, Peter, Lindström, Sara, Perez-Stable, Eliseo J., Haiman, Christopher A., Ziv, Elad
Published in Nature communications (20.10.2014)
Published in Nature communications (20.10.2014)
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Melanoma: clinical-pathological and molecular analysis in patients of Ibague city, Colombia
Puentes, Carlos, Estrada, Ana, Bohórquez, Mabel, Vélez, Anggi, Giraldo, Carlos, Echeverry, Magdalena
Published in Duazary (01.01.2020)
Published in Duazary (01.01.2020)
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BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry
Estrada-Flórez, Ana P, Bohórquez, Mabel E, Vélez, Alejandro, Duque, Carlos S, Donado, Jorge H, Mateus, Gilbert, Panqueba-Tarazona, Cesar, Polanco-Echeverry, Guadalupe, Sahasrabudhe, Ruta, Echeverry, Magdalena, Carvajal-Carmona, Luis G
Published in Endocrine Connections (01.09.2019)
Published in Endocrine Connections (01.09.2019)
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Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment
Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H, Gilissen, Christian, Reader, Rose H, Jara, Lillian, Magdalena Echeverry, María, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O'Hare, Anne, Bolton, Patrick F, Hennessy, Elizabeth R, Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A, Cazier, Jean-Baptiste, De Barbieri, Zulema, Fisher, Simon E, Newbury, Dianne F
Published in PLoS genetics (01.06.2015)
Published in PLoS genetics (01.06.2015)
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The HABP2 G534E Variant Is an Unlikely Cause of Familial Nonmedullary Thyroid Cancer
Sahasrabudhe, Ruta, Stultz, Jacob, Williamson, John, Lott, Paul, Estrada, Ana, Bohorquez, Mabel, Palles, Claire, Polanco-Echeverry, Guadalupe, Jaeger, Emma, Martin, Lynn, Echeverry, Maria Magdalena, Tomlinson, Ian, Carvajal-Carmona, Luis G
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
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The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics
Bohórquez, Mabel E, Estrada, Ana P, Stultz, Jacob, Sahasrabudhe, Ruta, Williamson, John, Lott, Paul, Duque, Carlos S, Donado, Jorge, Mateus, Gilbert, Bolaños, Fernando, Vélez, Alejandro, Echeverry, Magdalena, Carvajal-Carmona, Luis G
Published in Endocrine Connections (01.05.2016)
Published in Endocrine Connections (01.05.2016)
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Novel MLH1 duplication identified in Colombian families with Lynch syndrome
Alonso-Espinaco, Virginia, Giráldez, María Dolores, Trujillo, Carlos, van der Klift, Heleen, Muñoz, Jenifer, Balaguer, Francesc, Ocaña, Teresa, Madrigal, Irene, Jones, Angela M., Echeverry, M. Magdalena, Velez, Alejandro, Tomlinson, Ian, Milà, Montserrat, Wijnen, Juul, Carvajal-Carmona, Luis, Castells, Antoni, Castellví-Bel, Sergi
Published in Genetics in medicine (01.02.2011)
Published in Genetics in medicine (01.02.2011)
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Genome Sequences of Three Colombian Helicobacter pylori Strains Isolated from Tolimense Patients
Guevara, Alix A, Torres, Roberto C, Suaréz, John J, Castro-Valencia, Fabian L, Parra, Giovanna, Torres, Javier, Carvajal Carmona, Luis, Echeverry de Polanco, M Magdalena, Bohórquez, Mabel E
Published in Microbiology resource announcements (30.04.2020)
Published in Microbiology resource announcements (30.04.2020)
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Correction: Exome Sequencing in an Admixed Isolated Population IndicatesNFXL1 Variants Confer a Risk for Specific Language Impairment
Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H., Gilissen, Christian, Reader, Rose H., Jara, Lillian, Magdalena Echeverry, María, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O’Hare, Anne, Bolton, Patrick F., Hennessy, Elizabeth R., Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A., Cazier, Jean-Baptiste, Barbieri, Zulema De, Fisher, Simon E., Newbury, Dianne F.
Published in PLoS genetics (26.06.2015)
Published in PLoS genetics (26.06.2015)
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Multiregional Sequencing Analysis Reveals Extensive Genetic Heterogeneity in Gastric Tumors from Latinos
Toal, Ted W, Estrada-Florez, Ana P, Polanco-Echeverry, Guadalupe M, Sahasrabudhe, Ruta M, Lott, Paul C, Suarez-Olaya, John J, Guevara-Tique, Alix A, Rocha, Sienna, Morales-Arana, Alexa, Castro-Valencia, Fabian, Urayama, Shiro, Kirane, Amanda, Wei, Dongguang, Rios-Sarabia, Nora, Medrano, Rafael, Mantilla, Alejandra, Echeverry de Polanco, Magdalena, Torres, Javier, Bohorquez-Lozano, Mabel E, Carvajal-Carmona, Luis G
Published in Cancer research communications (01.11.2022)
Published in Cancer research communications (01.11.2022)
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Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
Benavides, Jennyfer, Suárez, Jonh, Estrada, Ana, Bohórquez, Mábel, Ramírez, Carolina, Olaya, Justo, Sánchez, Yesid, Mateus, Gilbert, Carvajal, Luis, Echeverry, María Magdalena
Published in Biomédica (01.03.2020)
Published in Biomédica (01.03.2020)
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A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women
Shieh, Yiwey, Fejerman, Laura, Lott, Paul C, Marker, Katie, Sawyer, Sarah D, Hu, Donglei, Huntsman, Scott, Torres, Javier, Echeverry, Magdalena, Bohórquez, Mabel E, Martínez-Chéquer, Juan Carlos, Polanco-Echeverry, Guadalupe, Estrada-Flórez, Ana P, Haiman, Christopher A, John, Esther M, Kushi, Lawrence H, Torres-Mejía, Gabriela, Vidaurre, Tatianna, Weitzel, Jeffrey N, Zambrano, Sandro Casavilca, Carvajal-Carmona, Luis G, Ziv, Elad, Neuhausen, Susan L
Published in JNCI : Journal of the National Cancer Institute (01.06.2020)
Published in JNCI : Journal of the National Cancer Institute (01.06.2020)
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Abstract C030: Gastric tumors from Latino patients show extensive intratumor heterogeneity
Toal, Ted, Polanco-Echevery, Guadalupe M., Sahasrabudhe, Ruta, Estrada, Ana, Bohorquez, Mabel, Echeverry, Magdalena, Torres, Javier, Carvajal-Carmona, Luis G.
Published in Cancer epidemiology, biomarkers & prevention (01.06.2020)
Published in Cancer epidemiology, biomarkers & prevention (01.06.2020)
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Germline Mutations in PALB2 , BRCA1 , and RAD51C , Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer
Sahasrabudhe, Ruta, Lott, Paul, Bohorquez, Mabel, Toal, Ted, Estrada, Ana P, Suarez, John J, Brea-Fernández, Alejandro, Cameselle-Teijeiro, José, Pinto, Carla, Ramos, Irma, Mantilla, Alejandra, Prieto, Rodrigo, Corvalan, Alejandro, Norero, Enrique, Alvarez, Carolina, Tapia, Teresa, Carvallo, Pilar, Gonzalez, Luz M, Cock-Rada, Alicia, Solano, Angela, Neffa, Florencia, Della Valle, Adriana, Yau, Chris, Soares, Gabriela, Borowsky, Alexander, Hu, Nan, He, Li-Ji, Han, Xiao-You, Taylor, Philip R, Goldstein, Alisa M, Torres, Javier, Echeverry, Magdalena, Ruiz-Ponte, Clara, Teixeira, Manuel R, Carvajal-Carmona, Luis G
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2017)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2017)
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Abstract PR15: Intratumoral heterogeneity in Latino gastric adenocarcinomas
Toal, Ted, Echeverry, Guadalupe P., Sahasrabudhe, Ruta, Bohorquez, Mabel, Torres, Javier, Urayama, Shiro, Kirane, Amanda, Echeverry, Magdalena, Carmona, Luis G. Carvajal
Published in Cancer epidemiology, biomarkers & prevention (01.06.2020)
Published in Cancer epidemiology, biomarkers & prevention (01.06.2020)
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Abstract IA13: Advancing gastric cancer precision medicine through minority patient derived modeling
Zhang, Hongyong, Coggins, Nicole, Lott, Paul, Estrada, Ana, Polanco, Guadalupe, Morales, Alexa, Rocha, Sienna, Kirane, Amanda, Urayama, Shiro, Torres, Javier, Bohorquez, Mabel, Echeverry, Magdalena, Consortium, UCaMP, Carvajal-Carmona, Luis G.
Published in Cancer epidemiology, biomarkers & prevention (01.12.2020)
Published in Cancer epidemiology, biomarkers & prevention (01.12.2020)
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Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women
Marker, Katie M, Zavala, Valentina A, Vidaurre, Tatiana, Lott, Paul C, Vásquez, Jeannie Navarro, Casavilca-Zambrano, Sandro, Calderón, Mónica, Abugattas, Julio E, Gómez, Henry L, Fuentes, Hugo A, Picoaga, Ruddy Liendo, Cotrina, Jose M, Neciosup, Silvia P, Castañeda, Carlos A, Morante, Zaida, Valencia, Fernando, Torres, Javier, Echeverry, Magdalena, Bohórquez, Mabel E, Polanco-Echeverry, Guadalupe, Estrada-Florez, Ana P, Serrano-Gómez, Silvia J, Carmona-Valencia, Jenny A, Alvarado-Cabrero, Isabel, Sanabria-Salas, María Carolina, Velez, Alejandro, Donado, Jorge, Song, Sikai, Cherry, Daniel, Tamayo, Lizeth I, Huntsman, Scott, Hu, Donglei, Ruiz-Cordero, Roberto, Balassanian, Ronald, Ziv, Elad, Zabaleta, Jovanny, Carvajal-Carmona, Luis, Fejerman, Laura
Published in Cancer research (Chicago, Ill.) (01.05.2020)
Published in Cancer research (Chicago, Ill.) (01.05.2020)
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