The pan-cancer pathological regulatory landscape

por Falco, Matias M., Bleda, Marta, Carbonell-Caballero, José, Dopazo, Joaquín
Publicado 2016

Inferring the regulatory network behind a gene expression experiment

por Bleda, Marta, Medina, Ignacio, Alonso, Roberto, De Maria, Alejandro, Salavert, Francisco, Dopazo, Joaquin
Publicado 2012

Web-based network analysis and visualization using CellMaps

por Salavert, Francisco, García-Alonso, Luz, Sánchez, Rubén, Alonso, Roberto, Bleda, Marta, Medina, Ignacio, Dopazo, Joaquín
Publicado 2016

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing

por Medina, Ignacio, De Maria, Alejandro, Bleda, Marta, Salavert, Francisco, Alonso, Roberto, Gonzalez, Cristina Y., Dopazo, Joaquin
Publicado 2012

Genome Maps, a new generation genome browser

por Medina, Ignacio, Salavert, Francisco, Sanchez, Rubén, de Maria, Alejandro, Alonso, Roberto, Escobar, Pablo, Bleda, Marta, Dopazo, Joaquín
Publicado 2013

CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources

por Bleda, Marta, Tarraga, Joaquin, de Maria, Alejandro, Salavert, Francisco, Garcia-Alonso, Luz, Celma, Matilde, Martin, Ainoha, Dopazo, Joaquin, Medina, Ignacio
Publicado 2012

HGVA: the Human Genome Variation Archive

por Lopez, Javier, Coll, Jacobo, Haimel, Matthias, Kandasamy, Swaathi, Tarraga, Joaquin, Furio-Tari, Pedro, Bari, Wasim, Bleda, Marta, Rueda, Antonio, Gräf, Stefan, Rendon, Augusto, Dopazo, Joaquin, Medina, Ignacio
Publicado 2017

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

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas

por Luzón-Toro, Berta, Bleda, Marta, Navarro, Elena, García-Alonso, Luz, Ruiz-Ferrer, Macarena, Medina, Ignacio, Martín-Sánchez, Marta, Gonzalez, Cristina Y., Fernández, Raquel M., Torroglosa, Ana, Antiñolo, Guillermo, Dopazo, Joaquin, Borrego, Salud
Publicado 2015

Pathways systematically associated to Hirschsprung’s disease

por Fernández, Raquel M, Bleda, Marta, Luzón-Toro, Berta, García-Alonso, Luz, Arnold, Stacey, Sribudiani, Yunia, Besmond, Claude, Lantieri, Francesca, Doan, Betty, Ceccherini, Isabella, Lyonnet, Stanislas, Hofstra, Robert MW, Chakravarti, Aravinda, Antiñolo, Guillermo, Dopazo, Joaquín, Borrego, Salud
Publicado 2013

Babelomics 5.0: functional interpretation for new generations of genomic data

por Alonso, Roberto, Salavert, Francisco, Garcia-Garcia, Francisco, Carbonell-Caballero, Jose, Bleda, Marta, Garcia-Alonso, Luz, Sanchis-Juan, Alba, Perez-Gil, Daniel, Marin-Garcia, Pablo, Sanchez, Ruben, Cubuk, Cankut, Hidalgo, Marta R., Amadoz, Alicia, Hernansaiz-Ballesteros, Rosa D., Alemán, Alejandro, Tarraga, Joaquin, Montaner, David, Medina, Ignacio, Dopazo, Joaquin
Publicado 2015

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

por Luzón-Toro, Berta, Gui, Hongsheng, Ruiz-Ferrer, Macarena, Sze-Man Tang, Clara, Fernández, Raquel M., Sham, Pak-Chung, Torroglosa, Ana, Kwong-Hang Tam, Paul, Espino-Paisán, Laura, Cherny, Stacey S., Bleda, Marta, Enguix-Riego, María del Valle, Dopazo, Joaquín, Antiñolo, Guillermo, García-Barceló, María-Mercé, Borrego, Salud
Publicado 2015

Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension

por Rhodes, Christopher J., Ghataorhe, Pavandeep, Wharton, John, Rue-Albrecht, Kevin C., Hadinnapola, Charaka, Watson, Geoffrey, Bleda, Marta, Haimel, Matthias, Coghlan, Gerry, Corris, Paul A., Howard, Luke S., Kiely, David G., Peacock, Andrew J., Pepke-Zaba, Joanna, Toshner, Mark R., Wort, S. John, Gibbs, J. Simon R., Lawrie, Allan, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R.
Publicado 2017

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

por Machado, Rajiv D, Welch, Carrie L, Haimel, Matthias, Bleda, Marta, Colglazier, Elizabeth, Coulson, John D, Debeljak, Marusa, Ekstein, Josef, Fineman, Jeffrey R, Golden, William Christopher, Griffin, Emily L, Hadinnapola, Charaka, Harris, Michael A, Hirsch, Yoel, Hoover-Fong, Julie Elizabeth, Nogee, Lawrence, Romer, Lewis H, Vesel, Samo, Gräf, Stefan, Morrell, Nicholas W, Southgate, Laura, Chung, Wendy K
Publicado 2022

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

por Dopazo, Joaquín, Amadoz, Alicia, Bleda, Marta, Garcia-Alonso, Luz, Alemán, Alejandro, García-García, Francisco, Rodriguez, Juan A., Daub, Josephine T., Muntané, Gerard, Rueda, Antonio, Vela-Boza, Alicia, López-Domingo, Francisco J., Florido, Javier P., Arce, Pablo, Ruiz-Ferrer, Macarena, Méndez-Vidal, Cristina, Arnold, Todd E., Spleiss, Olivia, Alvarez-Tejado, Miguel, Navarro, Arcadi, Bhattacharya, Shomi S., Borrego, Salud, Santoyo-López, Javier, Antiñolo, Guillermo
Publicado 2016

The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

por Newnham, Michael, South, Kieron, Bleda, Marta, Auger, William R., Barberà, Joan A., Bogaard, Harm, Bunclark, Katherine, Cannon, John E., Delcroix, Marion, Hadinnapola, Charaka, Howard, Luke S., Jenkins, David, Mayer, Eckhard, Ng, Choo, Rhodes, Christopher J., Screaton, Nicholas, Sheares, Karen, Simpson, Michael A., Southwood, Mark, Su, Li, Taboada, Dolores, Traylor, Matthew, Trembath, Richard C., Villar, Sofia S., Wilkins, Martin R., Wharton, John, Gräf, Stefan, Pepke-Zaba, Joanna, Laffan, Michael, Lane, David A., Morrell, Nicholas W., Toshner, Mark
Publicado 2019

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

por Gui, Hongsheng, Schriemer, Duco, Cheng, William W., Chauhan, Rajendra K., Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S., Brouwer, Rutger W. W., Burns, Alan J., Cherny, Stacey S., Dopazo, Joaquin, Eggen, Bart J. L., Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C. H., Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S. W., Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C., Shepherd, Iain T., So, Man-Ting, Sribudiani, Yunia, Tang, Clara S. M., van den Hout, Mirjam C. G. N., van der Linde, Herma C., van Ham, Tjakko J., van IJcken, Wilfred F. J., Verheij, Joke B. G. M., Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè, Hofstra, Robert M. W.
Publicado 2017

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

por Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.
Publicado 2018

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

por Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
Publicado 2021

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

por Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe G N, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, MacKenzie Ross, Robert V, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, Wilkins, Martin R
Publicado 2019