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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 |
| 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. |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |