Raquel Rabionet

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Professor Agregat

University of Barcelona

Spain

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About

Raquel Rabionet is a Professor Agregat at the Universitat de Barcelona, Spain. Her research focuses on genetic variants and their implications in various medical conditions, including stroke genetics, Schaaf-Yang syndrome, and muscle phenotyping in musculoskeletal research. She has contributed to multiple recent articles that expand the understanding of phenotypic spectra and molecular pathologies related to these conditions.

Recent Grants

Grant: Close

Grup de recerca en Genètica Molecular Humana

Open Date: 2022-01-01

Close Date: 2024-12-01

Grant: Close

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

Open Date: 2018-01-01

Close Date: 2019-12-01

Grant: Close

estudi de CNVs en Opitz i fractures atípiques

Open Date: 2017-04-01

Close Date: 2019-12-01

Articles (17)

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2022

Collaborators (31)

Angel Campos-Barros

Head of the Molecular Endocrinology Division

La Paz University Hospital

SPAIN

Raquel Rabionet

Research Interests

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About

Recent Grants

Articles (17)

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

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.

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

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

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.

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.

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

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

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

Collaborators (31)

Angel Campos-Barros

Pilar Rodríguez-Pombo

Elena Martín-Hernández

Francisco Barros

Mercedes Serrano

Rosa Calvo-Escalona

Lucía Martínez-Santamaría

Aarne Fleischer

Noèlia Fernàndez-Castillo

Joana Fort

Jane Maguire

Ana Latorre-Pellicer

Juan Andres Jimenez Estrada

Carlos Santos Ocaña

Josep Francesc Abril Ferrando

Sami Curtze

Susanna Balcells

Guillem Cañellas Calafat

Fernando Rivadeneira

Xavier Nogues

Alberto Marina

Saoud Tahsin Swafiri Swafiri

Leandro Sastre

María José Escámez

Eleni Douni

Anita DeStefano

Mercedes Gil-Campos

RAMON M PUJOL

Cristina Ugalde

Francesc Palau

Kathleen Curran

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