Raquel Rabionet (0000-0001-5006-8140)

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Biography

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, and their relation to Mendelian and complex diseases. Among others, I have studied the genetic susceptibility to Fibromyalgia; the involvement of methylation changes in Alzheimer disease; CNV discovery from next generation sequencing data; application of exome sequencing to Intellectual disability and Mendelian disorders; or the genetics of Sezary Syndrome. Currently, I am a professor at the Department of Genetics, Microbiology and Statistics of the University of Barcelona, where I conduct my research projects. I am especially interested in the identification of genetic factors determining outcome after Stroke, following up our results for novel candidate genes in intellectual disability, integrating different -omics in the analysis of Sézary syndrome, and identifying genetic susceptibility factors for obsessive compulsive disorder.

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Universitat de Barcelona: Barcelona, ES

2020 to present | Professor Agregat (Genetics, Microbiology and Statistics)

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Raquel Rabionet

https://orcid.org/0000-0001-5006-8140

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Biography

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Employment (6)

Universitat de Barcelona: Barcelona, ES

fundació per la recerca i la docencia hospital sant joan de deu: barcelona, ES

Universitat de Barcelona: Barcelona, Catalunya, ES

Centre de Regulació Genòmica: Barcelona, Catalunya, ES

Duke University: Durham, NC, US

Institut de Recerca Oncològica: Barcelona, ES

Education and qualifications (2)

Universitat de Barcelona: Barcelona, Catalunya, ES

universitat de Barcelona: Barcelona, ES

Funding (4)

Brain and Bone 2D and 3D models and their application to research in disease pathogenesis

Grup de recerca en Genètica Molecular Humana

GENIUS: influències genètiques en el resultat funcional de l’ictus.

estudi de CNVs en Opitz i fractures atípiques

Works (50 of 163)

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

A perspective on muscle phenotyping in musculoskeletal research.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci

Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis.

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review

High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome.

Role of PATJ in Stroke Prognosis by modulating Endothelial to Mesenchymal Transition through the Hippo/Notch/PI3K Axis.

Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke.

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Stroke genetics informs drug discovery and risk prediction across ancestries.

The serotonin receptor 3E variant is a risk factor for female IBS-D.

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

On the association between Chiari malformation type 1, bone mineral density and bone related genes.

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.

CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative.

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment

Genome-wide association study identifies new locus associated with OCD

Genome-wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome.

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

Predicting eating disorder and anxiety symptoms using anorexia nervosa and obsessive-compulsive disorder polygenic scores

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.

Sex differences in oncogenic mutational processes.

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.

Efficient and Flexible Integration of Variant Characteristics in Rare Variant Association Studies Using Integrated Nested Laplace Approximation

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns.

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.

Butler enables rapid cloud-based analysis of thousands of human genomes.

Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis.

Combined burden and functional impact tests for cancer driver discovery using DriverPower.

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.

Comprehensive molecular characterization of mitochondrial genomes in human cancers.

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.

Divergent mutational processes distinguish hypoxic and normoxic tumours.

Genomic basis for RNA alterations in cancer.

Genomic footprints of activated telomere maintenance mechanisms in cancer.

High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.

Inferring structural variant cancer cell fraction.

Peer review (2 reviews for 2 publications/grants)