Browsing by Author Rabionet Janssen, Raquel
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| Issue Date | Title | Author(s) |
|---|---|---|
| 9-Jul-2021 | Functional Analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures | Ugartondo Asensio, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero, Diana; Nogués Solán, Xavier; Díez Pérez, Adolfo; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 1-Jan-2022 | Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment | Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc, 1970-; Martínez-Gil, Núria; Ovejero, Diana; Castañeda, Santos; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Rabionet Janssen, Raquel |
| 2022 | Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci | Martínez-Gil, Núria; Ovejero, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués, Xavier; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| Jun-2014 | Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system | Docampo Martínez, Elisa; Escaramís Babiano, Geòrgia; Gratacòs, Mònica; Villatoro, Sergi; Puig, Anna; Kogevinas, Manolis; Collado, Antonio; Carbonell, Jordi; Rivera, Javier; Vidal, Javier; Alegre, Jose; Estivill, Xavier, 1955-; Rabionet Janssen, Raquel |
| 1-Aug-2019 | Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa | Watson, Hunna J.; Yilmaz, Zeynep; Thorntont, Laura M.; Hubel, Christopher; Coleman, Jonathan R. I.; Gaspar, Helena A.; Bryois, Julien; Hinney, Anke; Leppa, Virpi M.; Mattheisen, Manuel; Medland, Sarah E.; Jiménez-Murcia, Susana; Forzan, Monica; Zeggini, Eleftheria; Bulik, Cynthia M.; Herpertz-Dahlmann, Beate; Gorwood, Philip; Raevuori, Anu; Keski-Rahkonen, Anna; Helder, Sietske G.; Boden, Joseph M.; Wade, Tracey D.; Sorbi, Sandro; Estivill, Xavier, 1955-; Lin, Bochao Danae; Huckins, Laura M.; Tsitsika, Artemis; Navratilova, Marie; Kennedy, Martin; Favaro, Angela; Pedersen, Nancy L.; Grove, Jakob; Breen, Gerome; Ntalla, Ioanna; Kiezebrink, Kirsty; Seitz, Jochen; Schork, Nicholas J.; Fischer, Krista; Crowley, James J.; Crawford, Steven; Franklin, Christopher S.; Werge, Thomas; Tziouvas, Konstantinos; Giegling, Ina; Gonidakis, Fragiskos; Ehrlich, Stefan; Sullivan, Patrick F.; Klump, Kelly L.; Kaye, Walter H.; Larsen, Janne T.; Dikeos, Dimitris; Dina, Christian; Schosser, Alexandra; Slachtova, Lenka; Palotie, Aarno; Gallinger, Steven; Scherer, Stephen W.; Perica, Vesna Boraska; Kirk, Katherine M.; Birgegård, Andreas; Widen, Elisabeth; Wagner, Gudrun; Rujescu, Dan; Hudson, James I.; Martin, Nicholas G.; Treasure, Janet; Hakonarson, Hakon; Gordon, Scott; Maj, Mario; Monteleone, Palmiero; Dick, Danielle M.; Adan, Roger A. H.; Pantel, Jacques; Reichborn-Kjennerud, Ted; Cichon, Sven; Szatkiewicz, Jin P.; Jordan, Jennifer; Schmidt, Ulrike; Fernández Aranda, Fernando; Egberts, Karin; Esko, Tõnu; Hatzikotoulas, Konstantinos; Pinto, Dalila; Norring, Claes; Giusti-Rodriguez, Paola; Escaramís Babiano, Geòrgia; Degortes, Daniela; Petersen, Liselotte; Walton, Esther; Halmi, Katherine A.; Olsen, Catherine M.; Kas, Martien J. H.; Klareskog, Lars; Tachmazidou, Ioanna; Tozzi, Federica; Johnson, Craig; Egberts, Karin; Karwautz, Andreas; Via, Maria C. La; Meulenbelt, Ingrid; Farmer, Anne; Magistretti, Pierre J.; Papezova, Hana; Mitchell, James; Andreassen, Ole A.; McGuffin, Peter; Woodside, D. Blake; Li, Dong; Hebebrand, Johannes; Cassina, Matteo; Ramoz, Nicolas; Herzog, Wolfgang; Forstner, Andreas J.; Hauser, Joanna; Fichter, Manfred M.; Purves, Kirstin L.; Kaprio, Jaakko; Kennedy, James L.; Davis, Oliver S. P.; Ritschel, Franziska; Tortorella, Alfonso; Herms, Stefan; Mannik, Katrin; Scherag, André; Nacmias, Benedetta; Marsal, Sara; Föcker, Manuel; Baker, Jessica H.; Montgomery, Grant W.; Docampo, Elisa; Rybakowski, Filip; Slof-Op ‘t Landt, Margarita C. T.; Boehm, Ilka; Kaplan, Allan S.; Foretova, Lenka; Roberts, Marion; Monteleone, Alessio Maria; Ripke, Stephan; Ando, Tetsuya; Brandt, Harry; Lilenfeld, Lisa; Lissowska, Jolanta; Dedoussis, George; Hellard, Stephanie Le; Juréus, Anders; Tenconi, Elena; Metspalu, Andres; Pearson, John F.; Knudsen, Gun Peggy S.; Ophoff, Roel A.; Bergen, Andrew W.; Parker, Richard; Mortensen, Preben Bo; Gratacòs, Mònica; Kim, Youl-Ri; Buehren, Katharina; Boni, Claudette; Berrettini, Wade H.; Henders, Anjali K.; Burghardt, Roland; Rotondo, Alessandro; Luykx, Jurjen; Dmitrzak-Weglarz, Monika; Rabionet Janssen, Raquel; Imgart, Hartmut; Zwaan, Martina de; van Furth, Eric F.; Janout, Vladimir; Yao, Shuyang; Tyszkiewicz-Nwafor, Marta; Zipfel, Stephan; Karhunen, Leila; Landén, Mikael; Courtet, Philippe; Padyukov, Leonid; Świątkowska, Beata; Crow, Scott; Strober, Michael; Kaminská, Deborah; Julià, Antonio; Cone, Roger D.; Inoko, Hidetoshi; Mitchell, Karen; Ricca, Valdo; DeSocio, Janiece E.; Danner, Unna N.; Giuranna, Johanna; Slagboom, P. Eline; Horwood, L. John; Lichtenstein, Paul; Slopien, Agnieszka; Alfredsson, Lars; McDevitt, Sara; Guo, Yiran; Ripatti, Samuli; Kalsi, Gursharan; O’Toole, Julie K.; Zerwas, Stephanie; Levitan, Robert D.; Hanscombe, Ken B.; Marshall, Christian R.; Stuber, Garret D.; van Elburg, Annemarie A.; Clementi, Maurizio; Duncan, Laramie E.; Santonastaso, Paolo; Micali, Nadia; Mattingsdal, Morten; Munn-Chernoff, Melissa A.; Guillaume, Sébastien; Whiteman, David C. |
| Jul-2016 | Identification of gene mutations and fusion genes in patients with Sézary Syndrome | Prasad, Aparna; Rabionet Janssen, Raquel; Espinet Solà, Blanca; Zapata, Luis; Puiggros Metje, Anna M.; Melero, Carme; Puig, Anna; Sarria Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach Panella, Ma. Teresa (María Teresa); Servitje Bedate, Octavio; Lopez Lerma, Ingrid; Gallardo, Fernando; Pujol, Ramon M.; Estivill, Xavier, 1955- |
| 16-Apr-2013 | Identification of genetic susceptibility factors for fibromyalgia | Docampo Martínez, Elisa |
| 5-Feb-2020 | Integrative pathway enrichment analysis of multivariate omics data | Paczkowska, Marta; Barenboim, Jonathan; Sintupisut, Nardnisa; Fox, Natalie S.; Zhu, Helen; Abd-Rabbo, Diala; Mee, Miles W.; Boutros, Paul C.; Deu-Pons, Jordi; Frigola, Joan; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich, Oriol; Reyes-Salazar, Iker; Rubio-Perez, Carlota; Sabarinathan, Radhakrishnan; Tamborero, David; PCAWG Drivers and Functional Interpretation Working Group; Reimand, Jüri; PCAWG Consortium; Aymerich Gregorio, Marta; Campo Güerri, Elias; López Guillermo, Armando; Gelpi Buchaca, Josep Lluís; Rabionet Janssen, Raquel |
| 18-May-2020 | Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study | Alemany-Navarro, María; Cruz, Raquel; Real, Eva; Segalàs Cosi, Cinto; Bertolín, Sara; Rabionet Janssen, Raquel; Carracedo Álvarez, Ángel; Menchón Magriñá, José Manuel; Alonso Ortega, María del Pino |
| 2019 | Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes | Rabionet Janssen, Raquel |
| Jun-2022 | On the association between Chiari malformation type 1, bone mineral density and bone related genes | Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián.; Patiño, Juan David; Cozar, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 5-Feb-2020 | Pan-cancer analysis of whole genomes | ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Rabionet Janssen, Raquel; Gelpí Buchaca, Josep Lluís; Aymerich, Marta; López Guillermo, Armando; Campo Güerri, Elias; Estivill, Xavier, 1955-; Escaramís Babiano, Geòrgia; Martín-Subero, José Ignacio |
| 5-Feb-2020 | Pathway and network analysis of more than 2500 whole cancer genomes | Reyna, Matthew A.; Haan, David; Paczkowska, Marta; Verbeke, Lieven P. C.; Vazquez, Miguel; Kahraman, Abdullah; Pulido-Tamayo, Sergio; Barenboim, Jonathan; Wadi, Lina; Dhingra, Priyanka; Shrestha, Raunak; Getz, Gad; Lawrence, Michael S.; Pedersen, Jakob Skou; Rubin, Mark A.; Wheeler, David A.; Brunak, Søren; Izarzugaza, Jose M. G.; Khurana, Ekta; Marchal, Kathleen; von Mering, Christian; Sahinalp, S. Cenk; Valencia, Alfonso; PCAWG Drivers and Functional Interpretation Working Group; Reimand, Jüri; Stuart, Joshua M.; Raphael, Benjamin J.; PCAWG Consortium; Deu-Pons, Jordi; Frigola, Joan; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich, Oriol; Reyes-Salazar, Iker; Rubio-Perez, Carlota; Sabarinathan, Radhakrishnan; Tamborero, David; Aymerich Gregorio, Marta; Campo Güerri, Elias; López Guillermo, Armando; Gelpi Buchaca, Josep Lluís; Rabionet Janssen, Raquel |
| 4-Jan-2019 | PATJ low frequency variants are associated with worse ischemic stroke functional outcome: a genome-wide meta-analysis | Mola Caminal, Marina; Carrera, Caty; Soriano Tarraga, Carolina; Giralt Steinhauer, Eva; Diaz-Navarro, Rosa M.; Tur, Silvia; Jimenez, Carmen; Medina-Dols, Aina; Cullell, Natalia; Torres Águila, Nuria Paz; Muiño, Elena; Rodriguez-Campello, Ana; Ois, Angel; Cuadrado-Godia, Elisa; Vivanco Hidalgo, Rosa Maria; Hernandez-Guillamon, Mar; Sol, Montse; Delgado, Pilar; Bustamante, Alejandro; Garcia-Berrocoso, Teresa; Mendioroz, Maite; Castellanos, Mar; Serena, Joaquín; Marti-Fabregas, Joan; Segura, Tomas; Serrano-Heras, Gemma; Obach, Víctor; Rib, Marc; Molina, Carlos A.; Alvarez-Sabin, Jose; Palomeras, Ernest; Freijo, Mar; Font, Maria A.; Rosand, Jonathan; Rost, Natalia S.; Gallego Fàbrega, Cristina; Lee, Jin-Moo; Heitsch, Laura; Ibanez, Laura; Rabionet Janssen, Raquel |
| 7-May-2020 | Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 | Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clémantine; Rabionet Janssen, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R.F.; van Essen, Antoine J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, J effrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser |
| 5-Feb-2020 | Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig | Rubanova, Yulia; Shi, Ruian; Harrigan, Caitlin F.; Li, Roujia; Wintersinger, Jeff; Sahin, Nil; Deshwar, Amit G.; PCAWG Evolution and Heterogeneity Working Group; Morris, Quaid D.; PCAWG Consortium; Deu-Pons, Jordi; Frigola, Joan; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich, Oriol; Reyes-Salazar, Iker; Rubio-Perez, Carlota; Sabarinathan, Radhakrishnan; Tamborero, David; Aymerich Gregorio, Marta; Campo Güerri, Elias; López Guillermo, Armando; Gelpi Buchaca, Josep Lluís; Rabionet Janssen, Raquel |
| 21-Sep-2020 | Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples | Bailey, M. H.; Meyerson, W. U.; Dursi, L. J.; Wang, L. B.; Dong, G.; Liang, W. W.; Weerasinghe, A.; Li, S.; Kelso, S.; MC3 Working Group; Saksena, G.; Ellrott, K.; Wendl, M. C.; Wheeler, D. A.; Getz, G.; Simpson, J. T.; Gerstein, M. B.; Ding, L.; PCAWG Consortium; Rabionet Janssen, Raquel; Gelpí Buchaca, Josep Lluís; Aymerich Gregorio, Marta; Campo Güerri, Elias; López Guillermo, Armando; Martín-Subero, José Ignacio |
| Feb-2019 | Serum magnesium and calcium levels in relation to ischemic stroke Mendelian randomization study | Larsson, Susanna C.; Traylor, Matthew; Burgess, Stephen; Boncoraglio, Giorgio B.; Jern, Christina; Michaëlsson, Karl; Markus, Hugh Stephen; MEGASTROKE project of the International Stroke Genetics Consortium; Rabionet Janssen, Raquel |
| 15-Jul-2020 | Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations | Martín Nalda, Andrea; Fortuny Guasch, Claudia; Rey, Lourdes; Bunney, Tom D.; Alsina, Laia; Esteve Solé, Ana; Bull, Daniel; Anton, Maria Carmen; Basagaña, Maria; Casals López, Ferran; Deyá, Angela; García Prat, Marina; Gimeno, Ramon; Juan, Manel; Martinez Banaclocha, Helios; Martinez Garcia, Juan J.; Mensa Vilaró, Anna; Rabionet Janssen, Raquel; Martin Begue, Nieves; Rudilla, Francesc; Yagüe, Jordi; Estivill, Xavier, 1955-; García Patos, Vicente; Pujol, Ramon M.; Soler Palacín, Pere; Katan, Matilda; Pelegrín, Pablo; Colobran, Roger; Vicente, Asun; Aróstegui Gorospe, Juan Ignacio |
| 31-May-2018 | Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery | Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Luedecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gillespie, Meredith K.; Brady, Lauren; Tarnopolsky, Mark; Madrigal Bajo, Irene; Eiris, Jesus; Domenech Salgado, Laura; Rabionet Janssen, Raquel; Strom, Tim M.; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E.; Field, Michael; Gecz, Jozef |