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Genetics

D-Index
74
Citations
17912
World Ranking
1972
National Ranking
26

Overview

Carmen Ayuso is affiliated with the University of Barcelona in Spain and has contributed extensively to research in biochemistry, genetics, molecular biology, and medicine. Their work spans molecular biology, genetics, ophthalmology, epidemiology, and hepatology, with a focus on retinal development and disorders, genomics and rare diseases, and ocular disorders and treatments.

Their recent publications include the following papers:

  • Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics (2020, Genetics in Medicine)
  • Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes (2021, Scientific Reports)
  • Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders (2021, npj Genomic Medicine)
  • Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1 (2020, Scientific Reports)
  • CSVS, a crowdsourcing database of the Spanish population genetic variability (2020, Nucleic Acids Research)

Carmen Ayuso has collaborated frequently with several coauthors, including:

  • Marta Cortón
  • Pablo Mínguez
  • Fiona Blanco-Kelly
  • Almudena Ávila-Fernández
  • Marta Del Pozo-Valero

Their work has been published in a variety of venues, with multiple publications appearing particularly in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • International Journal of Molecular Sciences
  • Scientific Reports
  • American Journal of Ophthalmology
  • Acta Ophthalmologica

The scientist's research covers the following main topics:

  • Retinal Development and Disorders
  • Genomics and Rare Diseases
  • Retinal Diseases and Treatments
  • RNA regulation and disease
  • Liver Disease Diagnosis and Treatment
  • Hepatocellular Carcinoma Treatment and Prognosis
  • Ocular Disorders and Treatments

Overall, Carmen Ayuso's body of work integrates genomics, transcriptomics, and clinical genetics, particularly within the context of retinal and systemic diseases. Their research contributes both to understanding molecular mechanisms and to improving diagnostic approaches in clinical genomics.

Best Publications

  • OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes

    Patrizia Amati-Bonneau;Maria Lucia Valentino;Pascal Reynier;Maria Esther Gallardo

  • Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

    Martínez-Mir A;Paloma E;Allikmets R;Ayuso C

  • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan

  • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

    James D. Eudy;Michael D. Weston;Su Fang Yao;Denise M. Hoover

  • CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    J.-M. Lee;E.M. Ramos;J.-H. Lee;T. Gillis

  • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

    J.T. Dendunnen;T. Kraayenbrink;T. Kraayenbrink;M. van Schooneveld;M. van Schooneveld;E. van de Vosse

  • Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

    Konstantinos Nikopoulos;Christian Gilissen;Alexander Hoischen;C. Erik van Nouhuys

  • CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    L.M. Astuto;J.M. Bork;M.D. Weston;J.W. Askew

  • Quality assessment of the human genome sequence

    Jeremy Schmutz;Jeremy Wheeler;Jane Grimwood;Mark Dickson

  • An Update on the Genetics of Usher Syndrome

    José M. Millán;Elena Aller;Teresa Jaijo;Fiona Blanco-Kelly

  • Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

    M.Esther Gallardo;Javier Lopez-Rios;Isabel Fernaud-Espinosa;Begoña Granadino

  • Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

    M. C. González-González;M. García-Hoyos;M.J. Trujillo;M. Rodríguez de Alba

  • AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

    Carrie M. Louie;Gianluca Caridi;Vanda S. Lopes;Vanda S. Lopes;Francesco Brancati

  • OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

    Patrizia Amati-Bonneau;Agnès Guichet;Aurélien Olichon;Arnaud Chevrollier

  • Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

    Marc Ferré;Marc Ferré;Dominique Bonneau;Dominique Bonneau;Dan Milea;Dan Milea;Arnaud Chevrollier

  • Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

    Konstantinos Nikopoulos;Hanka Venselaar;Rob W. J. Collin;Rosa Riveiro-Alvarez

  • Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

    S A Jordan;G J Farrar;P Kenna;M M Humphries

  • Analysis of the ABCA4 genomic locus in Stargardt disease

    Jana Zernant;Yajing Angela Xie;Carmen Ayuso;Rosa Riveiro-Alvarez

  • Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

    Carmen Ayuso;José M Millán;Marta Mancheño;Rafael Dal-Ré

  • Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

    M. C. González-González;M. J. Trujillo;M. Rodríguez de Alba;M. García-Hoyos

Frequent Co-Authors

Jordi Bruix
Jordi Bruix University of Barcelona
Montserrat Baiget
Montserrat Baiget Autonomous University of Barcelona
Josep M. Llovet
Josep M. Llovet University of Barcelona
Julián Panés
Julián Panés University of Barcelona
Juan Rodés
Juan Rodés University of Barcelona
Antoni Castells
Antoni Castells University of Barcelona
Bruno Sangro
Bruno Sangro University of Navarra
Carlo Rivolta
Carlo Rivolta University of Basel
Hakon Hakonarson
Hakon Hakonarson Children's Hospital of Philadelphia
Rando Allikmets
Rando Allikmets Columbia University

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