Raquel Rabionet

Biochemistry, Genetics and Molecular Biology · Life Sciences

60h-index28.8kcitations192works5.42yr avg
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Research Topics

Genetic Associations and Epidemiology(26), Cancer Genomics and Diagnostics(25), Genomics and Rare Diseases(24), Hearing, Cochlea, Tinnitus, Genetics(20), Genomic variations and chromosomal abnormalities(16)

Publications121 total

Rare Variant Association Analysis Uncovers Involvement of <i>VNN2</i> in Stroke Outcome
Stroke·2025
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Nature Genetics·2025· 28 citedOpen Access
Two New Cases Expand the Phenotypic Spectrum of <scp><i>TUBG1</i></scp> Missense Variants
American Journal of Medical Genetics Part A·2025Open Access
Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women
Osteoporosis International·2025Open Access
Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling
Osteoporosis International·2025· 1 cited
Rare Variant Association Analysis Uncovers Involvement of <i>VNN2</i> in Stroke Outcome
2024Open Access
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures
Human Genomics·2024· 3 citedOpen Access
 Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures 
2024Open Access
A perspective on muscle phenotyping in musculoskeletal research
Trends in Endocrinology and Metabolism·2024· 4 citedOpen Access
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Journal of Medical Genetics·2024· 3 cited
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Pediatric Neurology·2024· 1 cited
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
2024· 21 citedOpen Access
Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis
Cell Death Discovery·2024· 9 citedOpen Access
Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
2024Open Access
Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review
2023Open Access
High‐throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome
Journal of Clinical Laboratory Analysis·2023· 2 citedOpen Access
Role of PATJ in Stroke Prognosis by modulating Endothelial to Mesenchymal Transition through the Hippo/Notch/PI3K Axis.
2023Open Access
Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era
Revista de Osteoporosis y Metabolismo Mineral·2023· 1 citedOpen Access
The serotonin receptor 3E variant is a risk factor for female IBS-D
Journal of Molecular Medicine·2022· 6 citedOpen Access
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
Journal of Medical Genetics·2022· 9 citedOpen Access
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Frequent Co-authors

Xavier Estivill(34), Paolo Gasparini(12), Geòrgia Escaramís(7), Salvatore Melchionda(6), María L. Arbonés(6), Elisa Docampo(6), Leopoldo Zelante(5), Núria López-Bigas(5), Israel Fernández‐Cadenas(4), Jaume Roquer(4), Jonathan Rosand(4), Eden R. Martin(4), Michael L. Cuccaro(4), John R. Gilbert(4), Ángel Carracedo(4), Nancy Govea(3), Stylianos E. Antonarakis(3), Jordi Jiménez-Conde(3), Natalia S. Rost(3), Bradford B. Worrall(3)