I obtained a BSc in Biology in 1996. I went on to obtain a PhD in Genetics in 2002, working on the genetic causes of deafness under the supervision of Dr.Estivill. I did a postdoctoral stay at Duke University's Center for Human Genetic, under the supervision of Dr. Pericak-Vance, working in the genetics of autistic disorder. Since then, I came back to Barcelona, where I have worked on new sources of genetic variation, such as CNVs and epigenetics. My current projects involve: - genetic susceptibility to Fibromyalgia; - identification of novel genes for Intellectual Disability; -identification of genetic factors determining outcome after Stroke; -Identification of genes for Mendelian disorders through exome sequencing; - CNV discovery from exome sequencing data; -Methylation changes in Alzheimer's disease

ORCID ID: Raquel Rabionet 0000-0001-5006-8140
Recent Publications:

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Sailani MR, Makrythanasis P, Valsesia A, Santoni F, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE. Genome Res. 2013

Docampo, E. and Ribases, M. and Gratacos, M. and Bruguera, E. and Cabezas, C. and Sanchez-Mora, C. and Nieva, G. and Puente, D. and Argimon-Pallas, J. M. and Casas, M. and Rabionet, R. and Estivill, X., (2012). "Association of Neurexin 3 polymorphisms with smoking behavior", Genes Brain and Behavior, vol. 11, no. 6, pp. 704-711

Krug, Tiago and Gabriel, Joao Paulo and Taipa, Ricardo and Fonseca, Benedita V. and Domingues-Montanari, Sophie and Fernandez-Cadenas, Israel and Manso, Helena and Gouveia, Liliana O. and Sobral, Joao and Albergaria, Isabel and Gaspar, Gisela and Jimenez-Conde, Jordi and Rabionet, Raquel and Ferro, Jose M. and Montaner, Joan and Vicente, Astrid M. and Silva, Mario Rui and Matos, Ilda and Lopes, Gabriela and Oliveira, Sofia A., (2012). "TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches", Journal of Cerebral Blood Flow and Metabolism, vol. 32, no. 6, pp. 1061-1072

Biffi, Alessandro and Anderson, Christopher D. and Jagiella, Jeremiasz M. and Schmidt, Helena and Kissela, Brett and Hansen, Bjorn M. and Jimenez-Conde, Jordi and Pires, Caroline R. and Ayres, Alison M. and Schwab, Kristin and Cortellini, Lynelle and Pera, Joanna and Urbanik, Andrzej and Romero, Javier M. and Rost, Natalia S. and Goldstein, Joshua N. and Viswanathan, Anand and Pichler, Alexander and Enzinger, Christian and Rabionet, Raquel and Norrving, Bo and Tirschwell, David L. and Selim, Magdy and Brown, Devin L. and Silliman, Scott L. and Worrall, Bradford B. and Meschia, James F. and Kidwell, Chelsea S. and Broderick, Joseph P. and Greenberg, Steven M. and Roquer, Jaume and Lindgren, Arne and Slowik, Agnieszka and Schmidt, Reinhold and Woo, Daniel and Rosand, Jonathan and Int Stroke Genetics Consortium, (2011). "APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study", Lancet Neurology, vol. 10, no. 8, pp. 702-709

Iraola-Guzman, S. and Estivill, X. and Rabionet, R., (2011). "DNA methylation in neurodegenerative disorders: a missing link between genome and environment?", Clinical Genetics, vol. 80, no. 1, pp. 1-14

Docampo, Elisa and Giardina, Emiliano and Riveira-Munoz, Eva and de Cid, Rafael and Escaramis, Georgia and Perricone, Carlo and Fernandez-Sueiro, Jose L. and Maymo, Joan and Gonzalez-Gay, Miguel A. and Blanco, Francisco J. and Hueffmeier, Ulrike and Pilar Lisbona, M. and Martin, Javier and Carracedo, Angel and Reis, Andre and Rabionet, Raquel and Novelli, Giuseppe and Estivill, Xavier, (2011). "Deletion of LCE3C and LCE3B Is a Susceptibility Factor for Psoriatic Arthritis: A Study in Spanish and Italian Populations and Meta-Analysis", Arthritis and Rheumatism, vol. 63, no. 7, pp. 1860-1865

Minones-Moyano, Elena and Porta, Silvia and Escaramis, Georgia and Rabionet, Raquel and Iraola, Susana and Kagerbauer, Birgit and Espinosa-Parrilla, Yolanda and Ferrer, Isidre and Estivill, Xavier and Marti, Eulalia, (2011). "MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function", Human Molecular Genetics, vol. 20, no. 15, pp. 3067-3078

Ma, D. Q. and Rabionet, R. and Konidari, I. and Jaworski, J. and Cukier, H. N. and Wright, H. H. and Abramson, R. K. and Gilbert, J. R. and Cuccaro, M. L. and Pericak-Vance, M. A. and Martin, E. R., (2010). "Association and Gene-Gene Interaction of SLC6A4 and ITGB3 in Autism", American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, vol. 153B, no. 2, pp. 477-483

Docampo, Elisa and Rabionet, Raquel and Riveira-Munoz, Eva and Escaramis, Georgia and Julia, Antonio and Marsal, Sara and Ezequiel Martin, Jose and Angel Gonzalez-Gay, Miguel and Balsa, Alejandro and Raya, Enrique and Martin, Javier and Estivill, Xavier, (2010). "Deletion of the Late Cornified Envelope Genes, LCE3C and LCE3B, Is Associated With Rheumatoid Arthritis", Arthritis and Rheumatism, vol. 62, no. 5, pp. 1246-1251

Cukier, Holly N. and Rabionet, Raquel and Konidari, Ioanna and Rayner-Evans, Melissa Y. and Baltos, Mary L. and Wright, Harry H. and Abramson, Ruth K. and Martin, Eden R. and Cuccaro, Michael L. and Pericak-Vance, Margaret A. and Gilbert, John R., (2010). "Novel variants identified in methyl-CpG-binding domain genes in autistic individuals", Neurogenetics, vol. 11, no. 3, pp. 291-303

Biffi, Alessandro and Sonni, Akshata and Anderson, Christopher D. and Kissela, Brett and Jagiella, Jeremiasz M. and Schmidt, Helena and Jimenez-Conde, Jordi and Hansen, Bjorn M. and Fernandez-Cadenas, Israel and Cortellini, Lynelle and Ayres, Alison and Schwab, Kristin and Juchniewicz, Karol and Urbanik, Andrzej and Rost, Natalia S. and Viswanathan, Anand and Seifert-Held, Thomas and Stoegerer, Eva-Maria and Tomas, Marta and Rabionet, Raquel and Estivill, Xavier and Brown, Devin L. and Silliman, Scott L. and Selim, Magdy and Worrall, Bradford B. and Meschia, James F. and Montaner, Joan and Lindgren, Arne and Roquer, Jaume and Schmidt, Reinhold and Greenberg, Steven M. and Slowik, Agnieszka and Broderick, Joseph P. and Woo, Daniel and Rosand, Jonathan and Int Stroke Genetics Consortium, (2010). "Variants at APOE Influence Risk of Deep and Lobar Intracerebral Hemorrhage", Annals of Neurology, vol. 68, no. 6, pp. 934-943

Zadro, Cristina and Alemanno, Maria Stella and Bellacchio, Emanuele and Ficarella, Romina and Donaudy, Francesca and Melchionda, Salvatore and Zelante, Leopoldo and Rabionet, Raquel and Hilgert, Nele and Estivill, Xavier and Van Camp, Guy and Gasparini, Paolo and Carella, Massimo, (2009). "Are MYO1C and MYO1F associated with hearing loss?", Biochimica Et Biophysica Acta-Molecular Basis of Disease, vol. 1792, no. 1, pp. 27-32

Nelis, Mari and Esko, Tonu and Magi, Reedik and Zimprich, Fritz and Zimprich, Alexander and Toncheva, Draga and Karachanak, Sena and Piskackova, Tereza and Balascak, Ivan and Peltonen, Leena and Jakkula, Eveliina and Rehnstrom, Karola and Lathrop, Mark and Heath, Simon and Galan, Pilar and Schreiber, Stefan and Meitinger, Thomas and Pfeufer, Arne and Wichmann, H-Erich and Melegh, Bela and Polgar, Noemi and Toniolo, Daniela and Gasparini, Paolo and D'Adamo, Pio and Klovins, Janis and Nikitina-Zake, Liene and Kucinskas, Vaidutis and Kasnauskiene, Jurate and Lubinski, Jan and Debniak, Tadeusz and Limborska, Svetlana and Khrunin, Andrey and Estivill, Xavier and Rabionet, Raquel and Marsal, Sara and Julia, Antonio and Antonarakis, Stylianos E. and Deutsch, Samuel and Borel, Christelle and Attar, Homa and Gagnebin, Maryline and Macek, Milan and Krawczak, Michael and Remm, Maido and Metspalu, Andres, (2009). "Genetic Structure of Europeans: A View from the North-East", Plos One, vol. 4, no. 5

Armengol, Lluis and Villatoro, Sergi and Gonzalez, Juan R. and Pantano, Lorena and Garcia-Aragones, Manel and Rabionet, Raquel and Caceres, Mario and Estivill, Xavier, (2009). "Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups", Plos One, vol. 4, no. 9

Rabionet, R. and Espinosa-Parrilla, Y. and Estivill, X., (2008). "Human genetics branches out in Barcelona.", Genome Biol, vol. 9, no. 8, pp. 318

ARMENGOL, L and RABIONET, R and ESTIVILL, X, (2008). "The emerging role of structural variations in common disorders: initial findings and discovery challenges", CYTOGENETIC AND GENOME RESEARCH, vol. 123, no. 1-4, pp. 108-117

RABIONET, R and MORALES-PERALTA, E and LOPEZ-BIGAS, N and et al., (2006). "A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family", GENETICS AND MOLECULAR BIOLOGY, vol. 29, no. 3, pp. 443-445

Rabionet, Raquel and McCauley, Jacob L and Jaworski, James M and Ashley-Koch, Allison E and Martin, Eden R and Sutcliffe, James S and Haines, Jonathan L and DeLong, G Robert and Abramson, Ruth K and Wright, Harry H and Cuccaro, Michael L and Gilbert, John R and Pericak-Vance, Margaret A, (2006). "Lack of association between autism and SLC25A12.", The American journal of psychiatry, vol. 163, no. 5, pp. 929-31

BALLANA, E and MORALES, E and RABIONET, R and et al., (2006). "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 341, no. 4, pp. 950-957

RABIONET, R and JAWORSKI, JM and ASHLEY-KOCH, AE and et al., (2004). "Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes", NEUROSCIENCE LETTERS, vol. 372, no. 3, pp. 209-214

ASHLEY-KOCH, AE and JAWORSKI, J and MEI, H and et al., (2004). "Evidence for gene-gene interactions influencing susceptibility to autistic disorder", AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, vol. 130B, no. 1, pp. 105-106

Raquel (Kelly) Rabionet

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Joined: 2013-07-05

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