miARma-Seq: a comprehensive tool for miRNA, mRNA and circRNA analysis

por Andrés-León, Eduardo, Núñez-Torres, Rocío, Rojas, Ana M.
Publicado 2016

Corrigendum: miARma-Seq: a comprehensive tool for miRNA, mRNA and circRNA analysis

por Andrés-León, Eduardo, Núñez-Torres, Rocío, Rojas, Ana M.
Publicado 2018

A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

por Núñez-Torres, Rocío, Fernández, Raquel M, López-Alonso, Manuel, Antiñolo, Guillermo, Borrego, Salud
Publicado 2009

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

por Sánchez-Mejías, Avencia, Núñez-Torres, Rocio, Fernández, Raquel M, Antiñolo, Guillermo, Borrego, Salud
Publicado 2010

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

por Fernández, Raquel M, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Publicado 2010

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

por Ruiz-Ferrer, Macarena, Torroglosa, Ana, Núñez-Torres, Rocío, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Publicado 2011

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

por Fernández, Raquel María, Mathieu, Yves, Luzón-Toro, Berta, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Amiel, Jeanne, Borrego, Salud
Publicado 2013

Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

por Luzón-Toro, Berta, Torroglosa, Ana, Núñez-Torres, Rocío, Enguix-Riego, María Valle, Fernández, Raquel María, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Publicado 2012

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

por Núñez-Torres, Rocio, Fernández, Raquel M, Acosta, Manuel Jesus, Enguix-Riego, Maria del Valle, Marbá, Martina, Carlos de Agustín, Juan, Castaño, Luis, Antiñolo, Guillermo, Borrego, Salud
Publicado 2011

A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

por Nunez-Torres, Rocio, Pita, Guillermo, Peña-Chilet, María, López-López, Daniel, Zamora, Jorge, Roldán, Gema, Herráez, Belén, Álvarez, Nuria, Alonso, María Rosario, Dopazo, Joaquín, Gonzalez-Neira, Anna
Publicado 2023

The PNPLA3 Genetic Variant rs738409 Influences the Progression to Cirrhosis in HIV/Hepatitis C Virus Coinfected Patients

por Núñez-Torres, Rocío, Macías, Juan, Mancebo, María, Frías, Mario, Dolci, Giovanni, Téllez, Francisco, Merino, Dolores, Merchante, Nicolás, Gómez-Mateos, Jesús, Guaraldi, Giovanni, Rivero-Juárez, Antonio, Pineda, Juan A., Real, Luis M.
Publicado 2016

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease

por Fernández, Raquel Ma, Bleda, Marta, Núñez-Torres, Rocío, Medina, Ignacio, Luzón-Toro, Berta, García-Alonso, Luz, Torroglosa, Ana, Marbà, Martina, Enguix-Riego, Ma Valle, Montaner, David, Antiñolo, Guillermo, Dopazo, Joaquín, Borrego, Salud
Publicado 2012

A crowdsourcing database for the copy-number variation of the Spanish population

por López-López, Daniel, Roldán, Gema, Fernández-Rueda, Jose L., Bostelmann, Gerrit, Carmona, Rosario, Aquino, Virginia, Perez-Florido, Javier, Ortuño, Francisco, Pita, Guillermo, Núñez-Torres, Rocío, González-Neira, Anna, Peña-Chilet, María, Dopazo, Joaquin
Publicado 2023

BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors

por García-Romero, Noemi, Carrión-Navarro, Josefa, Areal-Hidalgo, Pilar, Ortiz de Mendivil, Ana, Asensi-Puig, Adriá, Madurga, Rodrigo, Núñez-Torres, Rocio, González-Neira, Anna, Belda-Iniesta, Cristobal, González-Rumayor, Victor, López-Ibor, Blanca, Ayuso-Sacido, Angel
Publicado 2019

POLRMT as a Novel Susceptibility Gene for Cardiotoxicity in Epirubicin Treatment of Breast Cancer Patients

por Velasco-Ruiz, Alejandro, Nuñez-Torres, Rocio, Pita, Guillermo, Wildiers, Hans, Lambrechts, Diether, Hatse, Sigrid, Delombaerde, Danielle, Van Brussel, Thomas, Alonso, M. Rosario, Alvarez, Nuria, Herraez, Belen, Vulsteke, Christof, Zamora, Pilar, Lopez-Fernandez, Teresa, Gonzalez-Neira, Anna
Publicado 2021

A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

por Marchena-Perea, Erik Michel, Salazar-Hidalgo, Milton Eduardo, Gómez-Sanz, Alicia, Arranz-Ledo, Mónica, Barroso, Alicia, Fernández, Victoria, Tejera-Pérez, Hugo, Pita, Guillermo, Núñez-Torres, Rocío, Pombo, Luz, Morales-Chamorro, Rafael, Cano-Cano, Juana María, Soriano, Maria del Carmen, Garre, Pilar, Durán, Mercedes, Currás-Freixes, María, de la Hoya, Miguel, Osorio, Ana
Publicado 2022

CSVS, a crowdsourcing database of the Spanish population genetic variability

por Peña-Chilet, María, Roldán, Gema, Perez-Florido, Javier, Ortuño, Francisco M, Carmona, Rosario, Aquino, Virginia, Lopez-Lopez, Daniel, Loucera, Carlos, Fernandez-Rueda, Jose L, Gallego, Asunción, García-Garcia, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A, Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Morte, Beatriz, Carracedo, Ángel, Alonso, Ángel, Dopazo, Joaquín
Publicado 2020

Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

por Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., Simard, Jacques
Publicado 2023

Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

por Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., Simard, Jacques
Publicado 2023