Browsing by Author Rabionet Janssen, Raquel
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| Issue Date | Title | Author(s) |
|---|---|---|
| 6-Jul-2013 | A Common 56-kilobase deletion in a primate-specific segmental duplication creates a novel Butyrophilin-Like protein | Aigner, Johanna; Villatoro, Sergi; Rabionet Janssen, Raquel; Roquer, Jaume; Jiménez Conde, Jordi; Martí Puig, Eulàlia; Estivill, Xavier, 1955- |
| 5-Feb-2020 | A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns | Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin; PCAWG Tumor Subtypes and Clinical Translation Working Group; Danyi, Alexandra; de Ridder, Jeroen; van Herpen, Carla; Lolkema, Martijn P.; Steeghs, Neeltje; Getz, Gat; Morris, Quaid D.; 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 |
| 1-Oct-2014 | A genome-wide association study of anorexia nervosa | Fernández Aranda, Fernando; Jiménez-Murcia, Susana; Rabionet Janssen, Raquel; Genetic Consortium for Anorexia Nervosa; Wellcome Trust Case Control Consortium 3 |
| 19-Jun-2017 | A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling | Fernández Aranda, Fernando; Jiménez-Murcia, Susana; Rabionet Janssen, Raquel; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Price Foundation Collaborative Group |
| 4-Nov-2019 | A genome-wide DNA methylation signature for SETD1B-related syndrome | Krzyzewska, I. M.; Maas, S. M.; Henneman, P.; Lip, K. V. D.; Venema, A.; Baranano, K.; Chassevent, A.; Aref-Eshghi, E.; Essen, A. J. van; Fukuda, T.; Ikeda, H.; Jacquemont, M.; Kim, H. G.; Labalme, A.; Lewis, S. M.; Lesca, Gaetan; Madrigal Bajo, Irene; Mahida, S.; Matsumoto, N.; Rabionet Janssen, Raquel; Rajcan-Separovic, E.; Qiao, Y.; Sadikovic, B.; Saitsu, H.; Sweetser, D. A.; Alders, M.; Mannens, M. M. A. M. |
| 7-Sep-2022 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 | Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser |
| 24-Oct-2018 | Allele balance bias identifies systematic genotyping errors and false disease associations | Muyas, Francesc; Bosio, Mattia; Puig, Anna; Susak, Hana; Domènech, Laura; Escaramís Babiano, Geòrgia; Zapata, Luis; Demidov, German; Estivill, Xavier, 1955-; Rabionet Janssen, Raquel; Ossowski, Stephan |
| 22-Jun-2018 | Analysis of shared heritability in common disorders of the brain | Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J.; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A.; Ripke, Stephan; Walters, James; Wei, Zhi; Yu, Dongmei; Lee, Phil H.; Turley, Patrick; IGAP consortium; IHGC consortium; ILAE Consortium on Complex Epilepsies; IMSGC consortium; IPDGC consortium; METASTROKE; Intracerebral Hemorrhage Studies of the International Stroke Genetics Consortium [...] Rabionet R [...]; Attention-Deficit Hyperactivity Disorder Working Group of the Psychiatric Genomics Consortium; Anorexia Nervosa Working Group of the Psychiatric Genomics Consortium; Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium; Bipolar Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Tourette Syndrome; Obsessive Compulsive Disorder; Tourette Syndrome Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Cormand Rifà, Bru; Rabionet Janssen, Raquel |
| 3-Dec-2012 | Análisis de la herencia epigenética en trastornos neurológicos | Iraola Guzmán, Susana |
| 14-Mar-2019 | Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | Rabionet Janssen, Raquel; Remesal, Agustín; Mensa-Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruiz Ortiz, Estíbaliz; Antón, Jordi; Iglesias Jiménez, Estíbaliz; Modesto, Consuelo; Comas, David; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio |
| 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 |