Raquel Rabionet Janssen

Raquel Rabionet Janssen

Senior lecturer

ORCID: 0000-0001-5006-8140
Researcher ID: C-8379-2009
Knowledge area: Genètica

Research group: IP Grup de recerca en Genètica Molecular Humana

Contact Information
Department of Genetics, Microbiology and Statistics
Av. Diagonal 643, edifici Prevosti, planta 3
934021494
kelly.rabionet(a)ub.edu

Academic Training

llicenciada en biologia modalitat biologia sanitaria . universitat de barcelona . 1996 . (Diploma / Degree / Activities)
doctora en biologia . dep. Genetica de la Universitat de Barcelona . 2002 . (Ph.D.)

Research interests

Analysis of genetic factors involved in ischemic stroke outcome
analysis of genetic risk factors for Obsessive Compulsive disorder
Functional analysis of novel genes involved in Intellectual Disability

Projects

GENIUS: Genetic influences on functional oUtcome after Stroke . 2018 - 2020 . Ref.201726.10 . Fundació La Marató de TV3 . PI: Raquel Rabionet Janssen
Grup de recerca en Genètica Molecular Humana . 2022 - 2025 . Ref.2021 SGR 01093 . Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR) . PI: Raquel Rabionet Janssen
Modelos 2D y 3D de cerebro y hueso y su aplicación a la investigación de la patofisiología de las enfermedades . 2023 - 2026 . Ref.PID2022-141461OB-I00 . Ministerio de Ciencia e Innovación (MICINN) . PI: Susanna Balcells Comas; Raquel Rabionet Janssen

Journal Publications

Anttila, V.; Bulik-Sullivan, B.; Finucane, H.; Walters, R.; Bras, J.; Duncan, L.; Escott-Price, V.; Falcone, G.; Gormley, V.; Malik, R.; Patsopoulos, N.; Ripke, S.; Walters, R.; Wei, Z.; Yu, D.; PH Lee, P Turley; 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 and Obsessive Compulsive Disorder and Tourette Syndrome Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Breen, G; Churchhouse, C; Bulik, C; Daly, M; Dichgans, M; Faraone, SV; Guerreiro, R; Holmans, P; Kendler, K; Koeleman, B; Mathews, CA; Price, A; Scharf, JM; Sklar, P; Williams, J; Wood, N; Cotsapas, C; Palotie, A; Smoller, JW; Sullivan, P; Rosand, J; Corvin, A; Neale; MB; on behalf of the Brainstorm consortium (2018). Analysis of shared heritability in common disorders of the brain. Science, 360(6395) . Institutional Repository . ISSN: 0036-8075
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-Aguila, Nuria P.; Muino, Elena; Rodriguez-Campello, Ana; Ois, Angel; Cuadrado-Godia, Elisa; Vivanco-Hidalgo, Rosa M.; Hernandez-Guillamon, Mar; Sol, Montse; Delgado, Pilar; Bustamante, Alejandro; Garcia-Berrocoso, Teresa; Mendioroz, Maite; Castellanos, Mar; Serena, Joaquin; Marti-Fabregas, Joan; Segura, Tomas; Serrano-Heras, Gemma; Obach, Victor; Rib, Marc; Molina, Carlos A.; Alvarez-Sabin, Jose; Palomeras, Ernest; Freijo, Mar; Font, Maria A.; Rosand, Jonathan; Rost, Natalia S.; Gallego-Fabrega, Cristina; Lee, Jin-Moo; Heitsch, Laura; Ibanez, Laura; Cruchaga, Carlos; Phuah, Chia-Ling; Lemmens, Robin; Thijs, Vincent; Lindgren, Arne; Maguire, Jane; Rannikmae, Kristiina; Sudlow, Catherine L.; Jern, Christina; Stanne, Tara M.; Lorentzen, Erik; Munoz-Narbona, Lucia; Davalos, Antonio; Lopez-Cancio, Elena; Worrall, Bradford B.; Woo, Daniel; Kittner, Steven J.; Mitchell, Braxton D.; Montaner, Joan; Roquer, Jaume; Krupinski, Jurek; Estivill, Xavier; Rabionet, Raquel; Vives-Bauz, Cristofol; Fernandez-Cadenas, Israel; Jimenez-Conde, Jordi (2019). PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome A Genome-Wide Meta-Analysis. Circulation Research, 124(1), pp. 114 - 120 . Institutional Repository . ISSN: 0009-7330
Rabionet, R.; Remesal, A.; Mensa-Vilaró, A.; Murías, S.; Alcobendas, R.; González-Roca, E.; Ruiz-Ortiz, E.; Antón, J.; Iglesias, E.; Modesto, C.;Comas, D.; Puig, A.; Drechsel, O.; Ossowski, S.; Yagüe, J.; Merino, R.; Estivill, X.; Arostegui, J.I. (2019). Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis. Scientific Reports, 9, p. 4579 . Institutional Repository . ISSN: 2045-2322
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium: Campbell, PJ; Getz, G; Korbel, JO; Stuart, JM; Jennings, JL; Stein, LD; [...] Rabionet, R; [...] Gelpi, JL; [...] Aymerich, M; Lopez-Guillermo, A; [...] Campo, E; [...] (2020). Pan-cancer analysis of whole genomes. Nature, 578(7793), pp. 82 - 93 . Institutional Repository . ISSN: 0028-0836
Alemany-Navarro, M; Cruz, R; Real, E; Segalàs, C; Bertolín, S; Rabionet, R; Carracedo, Á; Menchón, JM; Alonso, P. (2020). Looking Into the genetic bases of OCD dimensions: a pilot genome-wide association study. Translational Psychiatry, 10, p. 151 . Institutional Repository . ISSN: 2158-3188
Castilla-Vallmanya, L.; Selmer, K.K.; Dimartino, C.; Rabionet, R.; Blanco-Sánchez, B.; Yang, S.; Reijnders, M.R.F.; van Essen, A.J.; Oufadem, M.; Vigeland, M.D.; Stadheim, B.; Houge, G.; Cox, H.; Kingston, H.; Clayton-Smith, J.; Innis, J.W.; Iascone, M.; Cereda, A.; Gabbiadini, S.; Chung, W.K.; Sanders, V.; Charrow, J.; Bryant, E.; Millichap, J.; Vitobello, A.; Thauvin, C.; MD, Mau-Them, F.T.; Faivre, L.; Lesca, G.; Labalme, A.; Rougeot, C.; Chatron, N.; Sanlaville, D.; Christensen, K.M.; Kirby, A.; Lewandowski, R.; Gannaway, R.; Aly, M.; Lehman, A.; Clarke, L.; Graul-Neumann, L.; Zweier, C.; Lessel, D.; Lozic, B.; Aukrust, I.; Peretz, R.; Stratton, S.; Smol, T.; Dieux-Coëslier, A.; Meira, J.; Wohler, E.; Sobreira, N.; Beaver, E.M.; Heeley, J.; Briere, L.C.; MS, High, F.A.; Sweetser, D.A.; Walker, M.A.; Keegan, C.E.; Jayakar, P.; Shinawi, M.; Kerstjens-Frederikse, W.S.; Earl, D.L.; Siu, V.M.; Reesor, E.; Yao, T.; Hegele, R.A:; Vaske, O.M.; Rego, S.; Undiagnosed Diseases Network, Care Rare Canada Consortium; Shapiro, K.A.; Wong, B.; Gambello, M.J.; McDonald, M.; Karlowicz, D.; Colombo, R.; Serretti, A.; Pais, L.; O'Donnell-Luria, A.; Wray, A.; Sadedin, S.; Chong, B.; Tan, T.Y.; Christodoulou, J.; White, S.M.; Slavotinek, A.; Barbouth, D.; Swols, D.M.; Parisot, M.; Bole-Feysot, C.; Nitschké, P.; Pingault, V.; Munnich, A.; Cho, M.T.; Cormier-Daire, V.; Balcells, S.; Lyonnet, S.; Grinberg, D.; Amiel, J.; Urreizti, R.; Gordon, C.T. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine, 22(7), pp. 1215 - 1226 . Institutional Repository . ISSN: 1098-3600
Laura Castilla-Vallmanya; Mónica Centeno-Pla; Mercedes Serrano; Héctor Franco-Valls; Raúl Martínez-Cabrera; Aina Prat-Planas; Elena Rojano; Juan A G Ranea; Pedro Seoane; Clara Oliva; Abraham J Paredes-Fuentes; Gemma Marfany; Rafael Artuch; Daniel Grinberg; Raquel Rabionet; Susanna Balcells; Roser Urreizti (2022). Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of Medical Genetics . Institutional Repository . ISSN: 0022-2593

Others Publications

Estivill, X; Rabionet, R (2016). Genética de las enfermedades complejas . In Tratado de Medicina Interna Farreras-Rozman. ed XVIII Volumen II . (pp. 1183-1190) . Elsevier . ISBN: 978-84-9022-996-5 .