Browsing by Author Rabionet Janssen, Raquel
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| Issue Date | Title | Author(s) |
|---|---|---|
| 27-Jan-2022 | Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder | Domènech, Laura; Willis, Jesse; Alemany-Navarro, Maria; Morey i Ramonell, Marta; Real, Eva; Escaramís Babiano, Geòrgia; Bertolín, Sara; Sánchez Chinchilla, Daniel; Balcells Comas, Susana; Segalàs Cosi, Cinto; Estivill, Xavier, 1955-; Menchón Magriñá, José Manuel; Gabaldón, Toni; Alonso Ortega, María del Pino; Rabionet Janssen, Raquel |
| 2022 | Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions | Ovejero, Diana; Garcia-Giralt, Natalia; Rabionet Janssen, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Pérez-Jurado, Luis; Nogués, Xavier; Etxebarria Foronda, Iñigo |
| 27-Sep-2017 | COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls | Rannikmäe, Kristiina; Sivakumaran, Vhinoth; Millar, Henry; Malik, Rainer; Anderson, Christopher D.; Chong, Mike; Dave, Tushar; Falcone, Guido J.; Fernandez-Cadenas, Israel; Jimenez-Conde, Jordi; Lindgren, Arne; Montaner, Joan; O'Donnell, Martin; Paré, Guillaume; Radmanesh, Farid; Rost, Natalia S.; Slowik, Agnieszka; Söderholm, Martin; Traylor, Matthew; Pulit, Sara L.; Seshadri, Sudha; Worrall, Bradford B.; Woo, Daniel; Markus, Hugh Stephen; Mitchell, Braxton D.; Dichgans, Martin; Rosand, Jonathan; Sudlow, Cathie L.M.; Rabionet Janssen, Raquel; METASTROKE; International Stroke Genetics Consortium (ISGC) McArdle PF; Wong, Q.; Gwinn, K; Achterberg, S.; Algra, A.; Amouyel, P.; Arnett, Donna K.; Arsava, E.M.; Attia, J.; Ay, H. |
| 5-Feb-2020 | Combined burden and functional impact tests for cancer driver discovery using DriverPower | Shuai, Shimin; PCAWG Drivers and Functional Interpretation Working Group; Gallinger, Steven; Stein, Lincoln 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 |
| 4-Feb-2021 | De Novo PORCN and ZIC2 mutations in a highly consanguineous family | Castilla Vallmanya, Laura; Gürsoy, Semra; Giray Bozkaya, Özlem; Prat Planas, Aina; Bullich, Gemma; Matalonga Borrel, Lesley; Centeno Pla, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
| 19-Feb-2022 | Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders. | Álvarez-Mora, María Isabel; Sánchez, Aurora; Rodríguez-Revenga, Laia; Corominas, Jordi; Rabionet Janssen, Raquel; Puig i Sardà, Susana; Madrigal, Irene |
| 5-Feb-2020 | Divergent mutational processes distinguish hypoxic and normoxic tumours | Bhandari, Vinayak; Li, Constance H.; Bristow, Robert G.; Boutros, Paul C.; 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; Gelpi Buchaca, Josep Lluís; López Guillermo, Armando; Rabionet Janssen, Raquel; Campo Güerri, Elias |
| 4-Feb-2019 | Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach. | Alemany-Navarro, María; Costas, Javier; Real, Eva; Segalàs Cosi, Cinto; Bertolín, Sara; Domènech, Laura; Rabionet Janssen, Raquel; Carracedo Álvarez, Ángel; Menchón Magriñá, José Manuel; Alonso Ortega, María del Pino |
| 26-Apr-2019 | eDiVA - Classification and prioritization of pathogenic variants for clinical diagnostics | Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet Janssen, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun G.; Schott, Jean-Jacques; Munell Casadesús, Francina; Colobran, Roger; Macaya Ruiz, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan |
| 19-Feb-2021 | Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation | Susak, Hana; Serra-Saurina, Laura; Demidov, German; Rabionet Janssen, Raquel; Domènech, Laura; Bosio, Mattia; Muyas, Francesc; Estivill, Xavier, 1955-; Escaramís Babiano, Geòrgia; Ossowski, Stephan |
| 4-Oct-2019 | Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus | Steyn, Angela; Crowther, Nigel J.; Norris, Shane A.; Rabionet Janssen, Raquel; Estivill, Xavier, 1955-; Ramsay, Michèle |
| 29-Jan-2020 | Exploring genetic variants in obsessive compulsive disorder severity: a GWAS approach | Alemany-Navarro, María; Cruz, Raquel; Real, Eva; Segalàs Cosi, Cinto; Bertolín, Sara; Baenas, Isabel; Domènech, Laura; Rabionet Janssen, Raquel; Carracedo Álvarez, Ángel; Menchón Magriñá, José Manuel; Alonso Ortega, María del Pino |
| 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 |