World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

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

Carmen Ayuso publications per year

1980: 2 publications 1981: 2 publications 1982: 0 publications 1983: 3 publications 1984: 1 publications 1985: 1 publications 1986: 0 publications 1987: 3 publications 1988: 3 publications 1989: 1 publications 1990: 3 publications 1991: 0 publications 1992: 3 publications 1993: 1 publications 1994: 3 publications 1995: 11 publications 1996: 4 publications 1997: 4 publications 1998: 13 publications 1999: 9 publications 2000: 20 publications 2001: 13 publications 2002: 8 publications 2003: 9 publications 2004: 7 publications 2005: 17 publications 2006: 22 publications 2007: 17 publications 2008: 24 publications 2009: 15 publications 2010: 26 publications 2011: 17 publications 2012: 13 publications 2013: 15 publications 2014: 22 publications 2015: 24 publications 2016: 24 publications 2017: 23 publications 2018: 21 publications 2019: 26 publications 2020: 30 publications 2021: 33 publications 2022: 27 publications 2023: 18 publications 2024: 20 publications 2025: 20 publications 2026: 1 publications
1980 2026

579 publications in total across all disciplines

Carmen Ayuso publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Carmen Ayuso sits on this spectrum.

45–54 publications: 6 scientists 55–64 publications: 10 scientists 65–74 publications: 35 scientists 75–84 publications: 84 scientists 85–94 publications: 102 scientists 95–104 publications: 151 scientists 105–114 publications: 175 scientists 115–124 publications: 203 scientists 125–134 publications: 217 scientists 135–144 publications: 205 scientists 145–154 publications: 193 scientists 155–164 publications: 188 scientists 165–174 publications: 170 scientists 175–184 publications: 178 scientists 185–194 publications: 164 scientists 195–204 publications: 173 scientists 205–214 publications: 159 scientists 215–224 publications: 134 scientists 225–234 publications: 143 scientists 235–244 publications: 105 scientists 245–254 publications: 114 scientists 255–264 publications: 92 scientists 265–274 publications: 88 scientists 275–284 publications: 87 scientists 285–294 publications: 80 scientists 295–304 publications: 62 scientists 305–314 publications: 75 scientists 315–324 publications: 67 scientists 325–334 publications: 60 scientists 335–344 publications: 52 scientists 345–354 publications: 40 scientists 355–364 publications: 48 scientists 365–374 publications: 47 scientists 375–384 publications: 46 scientists 385–394 publications: 31 scientists 395–404 publications: 27 scientists 405–414 publications: 40 scientists 415–424 publications: 30 scientists 425–434 publications: 43 scientists 435–444 publications: 29 scientists 445–454 publications: 14 scientists 455–464 publications: 28 scientists 465–474 publications: 21 scientists 475–484 publications: 21 scientists 485–494 publications: 22 scientists 495–504 publications: 17 scientists 505–514 publications: 12 scientists 515–524 publications: 11 scientists 525–534 publications: 8 scientists 535–544 publications: 8 scientists 545–554 publications: 14 scientists 555–564 publications: 4 scientists 565–574 publications: 11 scientists 575–584 publications: 5 scientists 585–594 publications: 11 scientists 595–604 publications: 12 scientists 605–614 publications: 7 scientists 615–624 publications: 6 scientists 625–634 publications: 10 scientists 635–644 publications: 9 scientists 645–654 publications: 10 scientists 655–664 publications: 6 scientists 665–674 publications: 6 scientists 675–684 publications: 6 scientists 685–694 publications: 4 scientists 695–702 publications: 6 scientists 703+ publications: 100 scientists
45 publications 703+

This scientist: 431 publications — 90th percentile

90% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 703 publications or more.

Carmen Ayuso D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Carmen Ayuso sits on this spectrum.

40–41 D-Index: 24 scientists 42–43 D-Index: 52 scientists 44–45 D-Index: 84 scientists 46–47 D-Index: 112 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 141 scientists 52–53 D-Index: 143 scientists 54–55 D-Index: 145 scientists 56–57 D-Index: 179 scientists 58–59 D-Index: 162 scientists 60–61 D-Index: 175 scientists 62–63 D-Index: 191 scientists 64–65 D-Index: 172 scientists 66–67 D-Index: 184 scientists 68–69 D-Index: 164 scientists 70–71 D-Index: 158 scientists 72–73 D-Index: 150 scientists 74–75 D-Index: 136 scientists 76–77 D-Index: 127 scientists 78–79 D-Index: 127 scientists 80–81 D-Index: 111 scientists 82–83 D-Index: 110 scientists 84–85 D-Index: 110 scientists 86–87 D-Index: 84 scientists 88–89 D-Index: 102 scientists 90–91 D-Index: 66 scientists 92–93 D-Index: 72 scientists 94–95 D-Index: 70 scientists 96–97 D-Index: 54 scientists 98–99 D-Index: 60 scientists 100–101 D-Index: 49 scientists 102–103 D-Index: 55 scientists 104–105 D-Index: 45 scientists 106–107 D-Index: 42 scientists 108–109 D-Index: 28 scientists 110–111 D-Index: 39 scientists 112–113 D-Index: 25 scientists 114–115 D-Index: 31 scientists 116–117 D-Index: 29 scientists 118–119 D-Index: 34 scientists 120–121 D-Index: 29 scientists 122–123 D-Index: 29 scientists 124–125 D-Index: 18 scientists 126–127 D-Index: 27 scientists 128–129 D-Index: 22 scientists 130–131 D-Index: 16 scientists 132–133 D-Index: 11 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 12 scientists 138–139 D-Index: 21 scientists 140–141 D-Index: 4 scientists 142–143 D-Index: 9 scientists 144–145 D-Index: 14 scientists 146–147 D-Index: 6 scientists 148–149 D-Index: 10 scientists 150–151 D-Index: 7 scientists 152–153 D-Index: 9 scientists 154–155 D-Index: 8 scientists 156–157 D-Index: 8 scientists 158–159 D-Index: 9 scientists 160+ D-Index: 96 scientists
40 D-Index 160+

This scientist: 74 D-Index — 56th percentile

56% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 160 D-Index or more.

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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Related Online Degrees & Career Pathways

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Whether you want to work at the bench, with patients, or in healthcare operations, online degrees can help you build a versatile career in the evolving world of Genetics and allied health sciences.

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