Raquel Rabionet at Universitat de Barcelona - Research Interests, Publications & Academic Profile

Raquel Rabionet

Professor Agregat

University of Barcelona

Spain

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Research Interests

Biostatistics

40%

Cell Biology

30%

Medical Science

80%

Rare Disease

50%

Genome-wide Association

40%

Bone Biology

30%

Pharmacogenomic

20%

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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

Articles16

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

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Year:

2024

A perspective on muscle phenotyping in musculoskeletal research.

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2024

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

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2024

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

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2024

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

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Year:

2023

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

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Year:

2022

Stroke genetics informs drug discovery and risk prediction across ancestries.

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Year:

2022

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

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2022

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

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2022

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

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2022

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

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2022

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

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Year:

2022

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

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2022

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

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Year:

2022

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

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Year:

2022

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

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Year:

2022

Collaborators22

Pilar Rodríguez-Pombo

Universidad Autónoma de Madrid

SPAIN

Francisco Barros

Head of Laboratory

SPAIN

Mercedes Serrano

Associate Professor

University of Barcelona

SPAIN

Rosa Calvo-Escalona

Head of Section

Hospital Clínic de Barcelona

SPAIN

Lucía Martínez-Santamaría

Profesor Visitante

Universidad Carlos III de Madrid - Campus de Leganés

SPAIN

Noèlia Fernàndez-Castillo

Assistant professor

University of Barcelona

SPAIN

Jane Maguire

University of Sydney

AUSTRALIA

Ana Latorre-Pellicer

SPAIN

Josep Francesc Abril Ferrando

Aggregate Professor

Universitat de Barcelona Facultat de Biologia

SPAIN

Sami Curtze

University of Helsinki

FINLAND

Susanna Balcells

SPAIN

Xavier Nogues

Associate Professor

Universitat Pompeu Fabra

SPAIN

Alberto Marina

Profesor de Investigación

Consejo Superior de Investigaciones Cientificas

SPAIN

Saoud Tahsin Swafiri Swafiri

Profesor asociado

Universidad Francisco de Vitoria

SPAIN

Leandro Sastre

Assistant Professor

Consejo Superior de Investigaciones Cientificas

SPAIN

María José Escámez

SPAIN

Anita DeStefano

Professor

Boston University

UNITED STATES

Mercedes Gil-Campos

Professor of Pediatrics

Universidad de Córdoba

SPAIN

RAMON M PUJOL

Tenured (full) Professor. Dermatology

University of Barcelona

SPAIN

Cristina Ugalde

SPAIN

Francesc Palau

Visiting and Clinical Adjunct Professor of Pediatrics - Accreditated as Full Professor by the Catalonian Quality Agency

University of Barcelona

SPAIN

Kathleen Curran

Prof.

Dublin City University

IRELAND

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