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R. Rabionet · SciRah

Researcher profile · Semantic Scholar

R. Rabionet

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R. Rabionet — researcher profile on SciRah

h-index: 40
Works: 113
Citations: 9,000

Most-cited papers

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
R. Malik, G. Chauhan, M. Traylor, M. Sargurupremraj +273 more
2018Nature Genetics1,441 citations Open access
Semantic Scholar
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Hunna J. Watson, Zeynep Yilmaz, L. Thornton, Christopher Hübel +206 more
2019Nature Genetics804 citations Open access
Semantic Scholar
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.
Elena Miñones-Moyano, S. Porta, G. Escaramís, R. Rabionet +6 more
2011Human Molecular Genetics479 citations
Semantic Scholar
Genetic Structure of Europeans: A View from the North–East
M. Nelis, T. Esko, R. Mägi, F. Zimprich +41 more
2009PLoS ONE450 citations Open access
Semantic Scholar
High carrier frequency of the 35delG deafness mutation in European populations
P. Gasparini, R. Rabionet, G. Barbujani, S. Melchionda +8 more
2000European Journal of Human Genetics406 citations Open access
Semantic Scholar
A genome-wide association study of anorexia nervosa
V. Boraska, C. Franklin, J. Floyd, L. Thornton +172 more
2011Molecular Psychiatry379 citations Open access
Semantic Scholar
Variants at APOE Influence Risk of Deep and Lobar Intracerebral Hemorrhage
A. Biffi, Akshata Sonni, Christopher D. Anderson, B. Kissela +31 more
2010Annals of Neurology279 citations Open access
Semantic Scholar
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
S. Melchionda, N. Ahituv, L. Bisceglia, T. Sobe +10 more
2001American Journal of Human Genetics230 citations Open access
Semantic Scholar
APOE Genotype Predicts Extent of Bleeding and Outcome in Lobar Intracerebral Hemorrhage
A. Biffi, Christopher D. Anderson, J. Jagiełła, H. Schmidt +32 more
2011Lancet Neurology191 citations Open access
Semantic Scholar
A decade of structural variants: description, history and methods to detect structural variation.
G. Escaramís, E. Docampo, R. Rabionet
2015Briefings in Functional Genomics151 citations Open access
Semantic Scholar
TTC7B Emerges as a Novel Risk Factor for Ischemic Stroke Through the Convergence of Several Genome-Wide Approaches
T. Krug, J. P. Gabriel, R. Taipa, B. V. Fonseca +16 more
2012Journal of Cerebral Blood Flow and Metabolism139 citations Open access
Semantic Scholar
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
N. López-Bigas, Montserrat Olivé, R. Rabionet, Orit Ben-David +9 more
2001Human Molecular Genetics127 citations Open access
Semantic Scholar
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Eva Thönnissen, R. Rabionet, M. Arbonés, X. Estivill +2 more
2002Human Genetics102 citations
Semantic Scholar
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
R. Rabionet, L. Zelante, N. López-Bigas, L. d'Agruma +5 more
200098 citations
Semantic Scholar
Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.
A. Prasad, R. Rabionet, B. Espinet, Luis Zapata +12 more
2016Journal of Investigative Dermatology87 citations Open access
Semantic Scholar
Connexin mutations in hearing loss, dermatological and neurological disorders.
R. Rabionet, N. López-Bigas, M. Arbonés, X. Estivill
2002Trends in Molecular Medicine83 citations
Semantic Scholar
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.
E. Ballana, Estela Morales, R. Rabionet, Bàrbara Montserrat +4 more
2006Biochemical and Biophysical Research Communications - BBRC80 citations
Semantic Scholar
Genome‐wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system
E. Docampo, G. Escaramís, M. Gratacòs, S. Villatoro +9 more
2014Pain70 citations Open access
Semantic Scholar
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
Marie Wattenhofer, M. D. Di Iorio, R. Rabionet, L. Dougherty +15 more
2002Journal of molecular medicine70 citations Open access
Semantic Scholar
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
N. Strom, Zachary F. Gerring, M. Galimberti, Dong-Mei Yu +210 more
2025Nature Genetics66 citations Open access
Semantic Scholar
Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups
E. Docampo, A. Collado, G. Escaramís, J. Carbonell +5 more
2013PLoS ONE66 citations Open access
Semantic Scholar
A genome-wide DNA methylation signature for SETD1B-related syndrome
I. Krzyzewska, S. Maas, P. Henneman, K. V. d. Lip +23 more
2019Clinical Epigenetics60 citations Open access
Semantic Scholar
PATJ Low Frequency Variants Are Associated with Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis
M. Mola-Caminal, C. Carrera, C. Soriano-Tárraga, E. Giralt-Steinhauer +61 more
2019Circulation Research58 citations Open access
Semantic Scholar
Shared Genetic Risk between Eating Disorder and Substance Use-Related Phenotypes: Evidence from Genome-Wide Association Studies
Melissa A. Munn-Chernoff, E. Johnson, Yi-Ling Chou, J. Coleman +350 more
2020Addiction Biology50 citations Open access
Semantic Scholar
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
A. Martín-Nalda, C. Fortuny, L. Rey, T. D. Bunney +26 more
2020Journal of Clinical Immunology50 citations Open access
Semantic Scholar
DNA methylation in neurodegenerative disorders: a missing link between genome and environment?
Susana Iraola-Guzmán, X. Estivill, R. Rabionet
2011Clinical Genetics50 citations Open access
Semantic Scholar
Serum magnesium and calcium levels in relation to ischemic stroke
S. Larsson, M. Traylor, S. Burgess, G. Boncoraglio +255 more
2019Neurology46 citations Open access
Semantic Scholar
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
M. I. Álvarez-Mora, Aurora Sánchez, L. Rodríguez-Revenga, J. Corominas +3 more
2022Orphanet Journal of Rare Diseases44 citations Open access
Semantic Scholar
Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis.
E. Docampo, E. Giardina, E. Riveira-Muñoz, R. de Cid +14 more
2011Arthritis & Rheumatism44 citations Open access
Semantic Scholar
Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease
B. Petersen, M. Spehlmann, A. Raedler, Björn Stade +5 more
2014BMC Genomics43 citations Open access
Semantic Scholar
Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups
L. Armengol, S. Villatoro, J. González, L. Pantano +4 more
2009PLoS ONE41 citations Open access
Semantic Scholar
Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
L. Domènech, J. Willis, M. Alemany-Navarro, Marta Morell +11 more
2020Scientific Reports40 citations Open access
Semantic Scholar
Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
R. Malik, G. Chauhan, M. Traylor, M. Sargurupremraj +273 more
2019Nature Genetics40 citations Open access
Semantic Scholar
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Hunna J. Watson, Zeynep Yilmaz, L. Thornton, Christopher Hübel +206 more
2019Nature Genetics38 citations Open access
Semantic Scholar
An integrated data resource for genomic analysis of cutaneous T-cell lymphoma
Li-Wei Chang, C. Patrone, Wei Yang, R. Rabionet +7 more
2018European Journal of Cancer36 citations
Semantic Scholar
Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis.
E. Docampo, R. Rabionet, E. Riveira-Muñoz, G. Escaramís +8 more
2010Arthritis & Rheumatism36 citations
Semantic Scholar
Are MYO1C and MYO1F associated with hearing loss?
Cristina Zadro, Maria Stella Alemanno, E. Bellacchio, R. Ficarella +9 more
2009Biochimica et Biophysica Acta36 citations Open access
Semantic Scholar
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
Sebastian M. Waszak, Grace Tiao, Bin Zhu, T. Rausch +87 more
2017bioRxiv34 citations Open access
Semantic Scholar
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya, K. Selmer, Clémantine Dimartino, R. Rabionet +96 more
2020Genetics in Medicine31 citations Open access
Semantic Scholar
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein
Johanna Aigner, S. Villatoro, R. Rabionet, J. Roquer +3 more
2013BMC Genetics31 citations Open access
Semantic Scholar
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke
T. Jaworek, Hui-Chun Xu, B. Gaynor, J. Cole +111 more
2022Neurology30 citations Open access
Semantic Scholar
Association of Neurexin 3 polymorphisms with smoking behavior
E. Docampo, M. Ribasés, M. Gratacòs, E. Bruguera +8 more
2012Genes, Brain and Behavior30 citations Open access
Semantic Scholar
Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study
M. Alemany-Navarro, R. Cruz, E. Real, C. Segalàs +5 more
2020Translational Psychiatry26 citations Open access
Semantic Scholar
Allele balance bias identifies systematic genotyping errors and false disease associations
F. Muyas, Mattia Bosio, Anna Puig, H. Susak +7 more
2018Human Mutation26 citations Open access
Semantic Scholar
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
R. Rabionet, A. Remesal, A. Mensa-Vilaró, S. Murias +14 more
2019Scientific Reports25 citations Open access
Semantic Scholar
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
Raman Kumar, A. Gardner, Claire C. Homan, Evelyn Douglas +27 more
2018Human Mutation25 citations Open access
Semantic Scholar
PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data
G. Escaramís, C. Tornador, L. Bassaganyas, R. Rabionet +6 more
2013PLoS ONE24 citations Open access
Semantic Scholar
Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus.
Angela Steyn, N. Crowther, S. Norris, R. Rabionet +2 more
2019Epigenomics23 citations Open access
Semantic Scholar
Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene–environment interaction approach
M. Alemany-Navarro, J. Costas, E. Real, C. Segalàs +6 more
2019Translational Psychiatry21 citations Open access
Semantic Scholar
Human Mutation
Mattia Bosio, O. Drechsel, R. Rahman, F. Muyas +10 more
201919 citations
Semantic Scholar

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