Browsing by Author Rabionet Janssen, Raquel
Showing results 32 to 50 of 50
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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 1-Sep-2020 | Sex differences in oncogenic mutational processes | Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel; PCAWG Tumour Subtypes; Clinical Translation, Boutros, P.C.; PCAWG Consortium; Rabionet Janssen, Raquel; López Guillermo, Armando; Aymerich Gregorio, Marta; Campo Güerri, Elias; Gelpí Buchaca, Josep Lluís; Martín-Subero, José Ignacio |
| 16-Feb-2020 | Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies | Munn-Chernoff, Melissa A.; Johnson, Emma C.; Chou, Yi Ling; Coleman, Jonathan R. I.; Thornton, Laura M.; Walters, Raymond K.; Yilmaz, Zeynep; Baker, Jessica H.; Hübel, Christopher; Gordon, Scott; Medland, Sarah E.; Luykx, Jurjen; Batzler, Anthony; McClintick, Jeanette N.; Slachtova, Lenka; Gonidakis, Fragiskos; Fichter, Manfred M.; Santonastaso, Paolo; Maes, Hermine H.; Pedersen, Nancy L.; Scherer, Stephen W.; Männistö, Satu; Shen, Pei-Hong; Mattheisen, Manuel; Hack, Laura M.; Rabionet Janssen, Raquel; Mullan Harris, Kathleen; Johnson, Eric O.; Tyszkiewicz-Nwafor, Marta; Crowley, James J.; Hottenga, Jouke Jan; Palotie, Aarno; Karwautz, Andreas; Witt, Stephanie H.; McGuffin, Peter; Giusti Rodríguez, Paola; Ramoz, Nicolas; Lahti Pulkkinen, Marius; Tarter, Ralph E.; Mannik, Katrin; Ophoff, Roel A.; Karpyak, Victor M.; Culverhouse, Robert C.; Papezova, Hana; Penninx, Brenda W. J. H.; Werge, Thomas; Dong, Li; Meulenbelt, Ingrid; Kalsi, Gursharan; La Via, Maria C.; Zerwas, Stephanie; Strober, Michael; Giegling, Ina; Palviainen, Teemu; McQueen, Matthew B.; Lissowska, Jolanta; Copeland, William E.; Edwards, Alexis C.; Danner, Unna N.; Magnusson, Patrik K. E.; Meyers, Jacquelyn L.; Szatkiewicz, Jin P.; Brandt, Harry; Kim, Youl R.; Preuss, Ulrich; Nurnberger, John I; Boraska Perica, Vesna; Hayward, Caroline; Gelernter, Joel; Dina, Christian; Forzan, Monica; Martin, Nicholas G.; Iacono, William G.; Foo, Jerome C.; Degenhardt, Louisa; Docampo, Elisa; Lind, Penelope A.; Zhou, Hang; Wetherill, Leah; Cichon, Sven; Clementi, Maurizio; Scherbaum, Norbert; Duncan, Laramie E.; Monteleone, Alessio Maria; Alfredsson, Lars; Schork, Nicholas J.; Hodgkinson, Colin; Schwandt, Melanie; Foroud, Tatiana M.; Danae Lin, Bochao; Kas, Martien J.H.; Choi, Doo-Sup; Ritschel, Franziska; Schosser, Alexandra; Ntalla, Ioanna; Kramer, John; Ising, Marcus; Fischer, Krista; Kaminská, Deborah; Gallinger, Steven; Ridinger, Monika; Horwood, L. John; Jordan, Jennifer; Riley, Brien P.; Biernacka, Joanna M.; Goldman, David; Hinney, Anke; Widen, Elisabeth; Wills, Amanda G.; Bacanu, Silviu Alin; Slof-Op't Landt, Margarita C. T.; Brown, Sandra A.; McIntosh, Andrew M.; Föcker, Manuel; Hauser, Joanna; Ehrlich, Stefan; Clarke, Toni-Kim; Kaplan, Allan S.; Hancock, Dana B.; Hopfer, Christian J.; Foretova, Lenka; Schosser, Jochen; Degenhardt, Franziska; Adkins, Daniel E.; Slopien, Agnieszka; Zhao, Hongyu; Burghardt, Roland; Adkins, Amy E.; Mann, Karl; Tortorella, Alfonso; Tziouvas, Konstantinos; Marshall, Christian R.; Thomas, Nathaniel; Klump, Kelly L.; Vanyukov, Michael M.; Lucae, Susanne; Boehm, Ilka; Henders, Anjali K.; Wang, Jen-Chyong; Tozzi, Federica; Bigdeli, Tim B.; Parker, Richard; Larsen, Janne T.; Marsal, Sara; Bo Mortensen, Preben; Crow, Scott; Mitchell, Karen; Ligthart, Lannie; Giuranna, Johanna; Janout, Vladimir; Heilmann Heimbach, Stefanie; Kiefer, Falk; Imgart, Hartmut; Landén, Mikael; DeSocio, Janiece E.; Edenberg, Howard J.; Soyka, Michael; Walton, Esther; Jiménez-Murcia, Susana; Davis, Oliver S. P.; Micali, Nadia; Müller Myhsok, Bertram; Hellard, Stephanie Le; Keski Rahkonen, Anna; Mattingsdal, Morten; Sullivan, Patrick F.; Rietschel, Marcella; Dikeos, Dimitris; Hartmann, Annette M.; Lahti, Jari; Webb, Bradley T.; Hudson, James I.; Diazgranados, Nancy; Karhunen, Leila; Sorbi, Sandro; Domingue, Benjamin W.; Hebebrand, Johannes; Gratacos Mayora, Monica; Cone, Roger D.; Andreassen, Ole A.; Dedoussis, George; Krauter, Kenneth; Estivill, Xavier, 1955-; Costello, E. Jane; Guillaume, Sébastien; Navratilova, Marie; Rose, Richard J.; Leppä, Virpi M.; Sanchez Roige, Sandra; Kennedy, James L.; Rybakowski, Filip; Whitfield, John B.; Tsitsika, Artemis; Crawford, Steven; Treutlein, Jens; Keyes, Margaret; Świątkowska, Beata; Heath, Andrew C.; Zeggini, Eleftheria; Treasure, Janet; Monteleone, Palmiero; Vrieze, Scott; Pearson, John F.; McGue, Matt; Nöthen, Markus M.; Bergen, Andrew W.; Nacmias, Benedetta; Räikkönen, Katri; Bryois, Julien; Herms, Stefan; Ricca, Valdo; Wit, Harriet de; Wall, Tamara L.; Esko, Tõnu; Padyukov, Leonid; Guo, Yiran; Rice, John P.; Pantel, Jacques; Grove, Jakob; Dongbing, Lai; Milaneschi, Yuri; Helder, Sietske G.; Herzog, Wolfgang; Schuckit, Marc A.; Courtet, Philippe; Konte, Bettina; Goate, Alison M.; Maj, Mario; Palmer, Abraham A.; Maier, Wolfgang; Farrer, Lindsay A.; Frye, Mark A.; Raevuori, Anu; Franklin, Christopher S.; Hoffmann, Per; Strohmaier, Jana; Kuperman, Samuel; Bulik, Cynthia M.; Inoko, Hidetoshi; Sherva, Richard; Montgomery, Grant W.; Huckins, Laura M.; Egberts, Karim; Kaprio, Jaakko; Lichtenstein, Paul; Bertelsen, Sarah; Bucholz, Kathleen K.; Metspalu, Andres; Kiezebrink, Kirsty; Docherty, Anna R.; Wodarz, Norbert; Van Elburg, Annemarie A.; Stallings, Michael C.; Kennedy, Martin A; Levitan, Robert D.; Ripke, Stephan; Aliev, Fazil; Murray, Alison D.; Norring, Claes; Buehren, Katharina; Gäbel, Wolfgang; Boardman, Jason D.; Woodside, D. Blake; Wagner, Gudrun; Cassina, Matteo; Neale, Benjamin M.; Ando, Tetsuya; O'Toole, Julie K.; Yao, Shuyang; Grucza, Richard A.; Reichborn Kjennerud, Tez; Streit, Fabian; Julià, Antonio; Lynskey, Michael T.; Kranzler, Henry R.; Knudsen, Gun Peggy S.; Gorwood, Philip; Halmi, Katherine A.; Degortes, Daniela; Tenconi, Elena; Maher, Brion S.; Li-Shiun , Chen; Watson, Hunna J.; Adan, Roger A. H.; Dick, Danielle M.; McDevitt, Sara; Hartz, Sarah M.; Madden, Pamela A.F .; Nelson, Elliot C.; Wade, Tracey D.; Chen, Danfeng; Kaye, Walter H.; Olsen, Catherine M.; Tachmazidou, Ioanna; Eriksson, Johan G.; Slagboom, P. Eline; Loukola, Anu; Birgegård, Andreas; Bierut, Laura J.; Rujescu, Dan; Hewitt, John K.; Hatzikotoulas, Konstantinos; Kendler, Kenneth S.; Saccone, Nancy L.; Johnson, Craig; Dmitrzak Weglarz, Monika; Zipfel, Stephan; Hanscombe, Ken B.; Agrawal, Arpana; Roberts, Marion; Pinto, Dalila; Peterson, Roseann E.; Gaspar, Héléna A.; Reynolds, Maureen D.; Breen, Gerome; Gillespie, Nathan A.; Boni, Claudette; Hakonarson, Hakon; Fox, Louis; Rotondo, Alessandro; Escaramís Babiano, Geòrgia; Forstner, Andreas J.; Van Furth, Eric F.; Salvatore, Jessica E.; Porjesz, Bernice; Berrettini, Wade H.; Boomsma, Dorret I.; Koller, Gabriele; Wedow, Robbee; Frank, Josef; Ripatti, Samuli; Magistretti, Pierre J.; Polimanti, Renato; Schmidt, Ulrike; Zwaan, Martina de; Boden, Joseph M.; Zill, Peter; Mitchell, James; Ryu, Euijung; Scherag, André; MacKillop, James; Mbarek, Hamdi; Herpertz-Dahlmann, Beate; Hesselbrock, Victor; Dahmen, Norbert; Lilenfeld, Lisa; Silberg, Judy |
| 12-May-2017 | Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa | Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Thornton, Laura M.; Hinney, Anke; Daly, Mark; Sullivan, Patrick F.; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M.; Fernández Aranda, Fernando; Rabionet Janssen, Raquel |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |
| 24-Jun-2021 | The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome. | Institute of Human Genetics, Heidelberg, Germany; Heidelberg University Hospital, Heidelberg; Hammer, Christian; Houghton, Lesley A.; Goebel-Stengel, Miriam; Institute of Medical Biometry, Heidelberg; Milovač, Irina; D'Amato, Mauro; Zheng, Tenghao; Mönnikes, Hubert; Gauss, Annika; Raithel, Martin; Andresen, Viola; Frieling, Thomas; Keller, Jutta; Pehl, Christian; Stein-Thöringer, Christoph; Clarke, Gerard; Kennedy, Paul J.; Cryan, John F.; Dinan, Timothy G.; Quigley, Eamonn M. M.; Spiller, Robin; Hospital Clínico Universidad de Chile; Mayer, Emeran A.; Sayuk, Gregory; Gazouli, Maria; Karamanolis, George; Kapur-Pojsič, Lejla; Bustamante, Mariona; Rabionet Janssen, Raquel; Estivil, Xavier; Franke, André; Lieb, Wolfgang; TARGID, University Hospital Leuven; Simrén, Magnus; Vicario, Maria; Santos, Javier |
| 10-Jun-2018 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome | Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| Nov-2022 | The serotonin receptor 3E variant is a risk factor for female IBS-D | Fritz, Nikola; Berens, Sabrina; Dong, Yuanjun; Martínez, Cristina; Schmitteckert, Stefanie; Houghton, Lesley A.; Goebel-Stengel, Miriam; Wahl, Verena; Kabisch, Maria; Götze, Dorothea; D'Amato, Mauro; Zheng, Tenghao; Röth, Ralp; Mönnikes, Hubert; Tesarz, Jonas; Engel, Felicitas; Gauss, Annika; Raithel, Martin; Andresen, Viola; Keller, Jutta; Frieling, Thomas; Pehl, Christian; Stein-Thöringer, Christoph; Clarke, Gerard; Kennedy, Paul J.; Cryan, John F.; Dinan, Timothy G.; Quigley, Eamonn M. M.; Spiller, Robin; Beltrán, Caroll; Madrid, Ana María; Torres, Verónica; Mayer, Emeran A.; Sayuk, Gregory; Gazouli, Maria; Karamanolis, George; Bustamante, Mariona; Estivil, Xavier; Rabionet Janssen, Raquel; Hoffmann, P. |
| 5-Jul-2014 | Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease | Petersen, Britt-Sabina; Spehlmann, Martina E.; Raedler, Andreas; Stade, Björn; Thomsen, Ingo; Rabionet Janssen, Raquel; Rosenstiel, Philip; Schreiber, Stefan; Franke, Andre |