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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 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 |
| 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 |
| 4-Nov-2019 | A genome-wide DNA methylation signature for SETD1B-related syndrome | Krzyzewska, I. M.; Maas, S. M.; Henneman, Peter; 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, Audrey; 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. |
| 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 | 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; González-Pérez, 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 |
| 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; González-Pérez, 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 |
| 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, Gad; Morris, Quaid D.; Stein, Lincoln D.; PCAWG Consortium; Deu-Pons, Jordi; Frigola, Joan; González-Pérez, 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 |
| 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; González-Pérez, 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 |
| 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; González-Pérez, 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 |
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