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Raquel Rabionet

Raquel Rabionet

D-Index & Metrics

Genetics

D-Index
45
Citations
17626
World Ranking
4193
National Ranking
80

Overview

Raquel Rabionet is affiliated with the University of Barcelona in Spain and has a research focus primarily situated within Biochemistry, Genetics and Molecular Biology as well as Medicine. Their published work spans 63 publications in Biochemistry, Genetics and Molecular Biology and 32 in Medicine.

Their scientific contributions extensively cover key subfields including Genetics, Molecular Biology, Clinical Psychology, Oncology, and Cancer Research. The range of topics addressed in their research highlights interests in Genetic Associations and Epidemiology, Obsessive-Compulsive Spectrum Disorders, Genomics and Rare Diseases, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, and Genetic Syndromes and Imprinting.

Notable recent papers include:

  • Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations (2020, Journal of Clinical Immunology)
  • Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders (2022, Orphanet Journal of Rare Diseases)
  • Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder (2022, Scientific Reports)
  • Genome-wide association study identifies new locus associated with OCD (2021, bioRxiv (Cold Spring Harbor Laboratory))
  • Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020, Genetics in Medicine)

Rabionet frequently collaborates with other researchers. The most frequent co-authors listed include Susana Balcells, Daniel Grinberg, Roser Urreizti, Natàlia Garcia-Giralt, and Diana Ovejero.

Their work is regularly published in venues such as bioRxiv (Cold Spring Harbor Laboratory), Bone Reports, the International Journal of Molecular Sciences, the Journal of Affective Disorders, and the Journal of Medical Genetics. BioRxiv accounts for the highest number of publications out of the noted venues.

Best Publications

  • Pan-cancer analysis of whole genomes

    Peter J. Campbell;Gad Getz;Jan O. Korbel;Joshua M. Stuart

  • Analysis of shared heritability in common disorders of the brain

    Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  • Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

    Phil H. Lee;Verneri Anttila;Hyejung Won;Yen-Chen A. Feng

  • Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

    Hunna J. Watson;Hunna J. Watson;Hunna J. Watson;Zeynep Yilmaz;Laura M. Thornton;Christopher Hübel;Christopher Hübel

  • Patterns of somatic structural variation in human cancer genomes

    Yilong Li;Nicola D Roberts;Jeremiah A Wala;Jeremiah A Wala;Ofer Shapira;Ofer Shapira

  • Connexin-26 mutations in sporadic and inherited sensorineural deafness

    Xavier Estivill;Paolo Fortina;Saul Surrey;Raquel Rabionet

  • Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

    H. J. Watson;Z. Yilmaz;L. M. Thornton;C. Hubel

  • High carrier frequency of the 35delG deafness mutation in European populations

    Paolo Gasparini;Raquel Rabionet;Guido Barbujani;Salvatore Melchionda

  • MicroRNA profiling of Parkinson’s disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

    Elena Miñones-Moyano;Sílvia Porta;Georgia Escaramís;Raquel Rabionet

  • Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

    Anna Grifa;Carsten A. Wagner;Lucrezia D'Ambrosio;Salvatore Melchionda

  • Genetic structure of Europeans: a view from the North-East

    Mari Nelis;Mari Nelis;Tõnu Esko;Tõnu Esko;Reedik Mägi;Fritz Zimprich

  • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

    Raquel Rabionet;Paolo Gasparini;Xavier Estivill

  • Variants at APOE Influence Risk of Deep and Lobar Intracerebral Hemorrhage

    Alessandro Biffi;Alessandro Biffi;Akshata Sonni;Akshata Sonni;Christopher D. Anderson;Christopher D. Anderson;Brett Kissela

  • Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

    Raquel Rabionet;Leopoldo Zelante;Núria López-Bigas;Leonardo D'Agruma

  • MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

    Salvatore Melchionda;Nadav Ahituv;Luigi Bisceglia;Tama Sobe

  • Loci associated with ischaemic stroke and its subtypes (SiGN) : A genome-wide association study

    Sara L Pulit;Patrick F McArdle;Quenna Wong;Rainer Malik

  • APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study

    Alessandro Biffi;Christopher D Anderson;Jeremiasz M Jagiella;Helena Schmidt

  • A Sequence of the CIS Gene Promoter Interacts Preferentially with Two Associated STAT5A Dimers: a Distinct Biochemical Difference between STAT5A and STAT5B

    Frédérique Verdier;Raquel Rabionet;Fabrice Gouilleux;Christian Beisenherz-Huss

  • Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

    Núria López-Bigas;Montserrat Olivé;Raquel Rabionet;Orit Ben-David

  • Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

    Lee Ph;Anttila;Won H

Frequent Co-Authors

Stephan Ripke
Stephan Ripke Massachusetts General Hospital
Ted Reichborn-Kjennerud
Ted Reichborn-Kjennerud University of Oslo
Hunna J. Watson
Hunna J. Watson University of North Carolina at Chapel Hill
Aarno Palotie
Aarno Palotie University of Helsinki
Cynthia M. Bulik
Cynthia M. Bulik University of North Carolina at Chapel Hill
Tonu Esko
Tonu Esko University of Tartu
Paolo Gasparini
Paolo Gasparini University of Trieste
Hakon Hakonarson
Hakon Hakonarson Children's Hospital of Philadelphia
Grant W. Montgomery
Grant W. Montgomery University of Queensland

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