World's Best Scientists 2026 revealed!
Hélène Dollfus

Hélène Dollfus

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Genetics
France
2024
Award Badge
Genetics and Molecular Biology
France
2024

D-Index & Metrics

Medicine

D-Index
82
Citations
23219
World Ranking
16190
National Ranking
532

Genetics

D-Index
81
Citations
21646
World Ranking
1535
National Ranking
60

Hélène Dollfus 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 Hélène Dollfus 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: 274 publications — 71st percentile

71% of scientists in this discipline score the same or lower.

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

Hélène Dollfus 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 Hélène Dollfus 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: 81 D-Index — 66th percentile

66% of scientists in this discipline score the same or lower.

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

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Hélène Dollfus is affiliated with the University of Strasbourg in France and has a research focus spanning biochemistry, genetics, molecular biology, and medicine. Their work covers a broad spectrum of subfields including genetics, molecular biology, ophthalmology, radiology, nuclear medicine and imaging, and neurology.

The scientist's main research topics include:

  • Genetic and Kidney Cyst Diseases
  • Genetic Syndromes and Imprinting
  • Hedgehog Signaling Pathway Studies
  • Retinal Development and Disorders
  • Genomics and Rare Diseases
  • Retinal Diseases and Treatments
  • Genomic variations and chromosomal abnormalities

Hélène Dollfus has contributed extensively to peer-reviewed journals. Frequent publication venues include:

  • Clinical Genetics
  • Orphanet Journal of Rare Diseases
  • European Journal of Human Genetics
  • International Journal of Molecular Sciences
  • Frontiers in Genetics

Recent representative papers authored or co-authored by the scientist are:

  • Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period, 2022, The Lancet Diabetes & Endocrinology
  • AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis, 2021, Nucleic Acids Research
  • Consensus clinical management guidelines for Alström syndrome, 2020, Orphanet Journal of Rare Diseases
  • Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress, 2020, EMBO Molecular Medicine
  • European Reference Networks: challenges and opportunities, 2021, Journal of Community Genetics

The scientist frequently collaborates with a number of researchers, including:

  • Jean Muller
  • Isabelle Meunier
  • Karine Clément
  • Jesús Argente
  • Andrea M. Haqq

Best Publications

  • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen

  • Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

    Alison J Ross;Helen May-Simera;Erica R Eichers;Masatake Kai

  • Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

    Perrault I;Rozet Jm;Calvas P;Gerber S

  • Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

    Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy

  • Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

    Carmen C Leitch;Norann A Zaghloul;Erica E Davis;Corinne Stoetzel

  • Mutation spectrum and splicing variants in the OPA1 gene.

    Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus

  • Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

    Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  • TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

    Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

    Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  • BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

    Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller

  • AnnotSV: an integrated tool for structural variations annotation

    Véronique Geoffroy;Yvan Herenger;Arnaud Kress;Corinne Stoetzel

  • ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

    Nathalie Dagoneau;Catherine Benoist-Lasselin;Céline Huber;Laurence Faivre

  • Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

    Isabelle Perrault;Nathalie Delphin;Sylvain Hanein;Sylvie Gerber

  • CHARGE syndrome: Report of 47 cases and review

    A.L. Tellier;V. Cormier-Daire;V. Abadie;J. Amiel

  • Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

    Corinne Stoetzel;Jean Muller;Virginie Laurier;Erica E. Davis

  • SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

    Sébastien Albert;Hélène Blons;Laurence Jonard;Delphine Feldmann

  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger

  • CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

    Susanne Kohl;Balazs Varsanyi;Balazs Varsanyi;Gesine Abadin Antunes;Britta Baumann

  • Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

    A Ross;H May-Simera;E Eichers;M Kai

  • Épidémiologie de la dégénérescence maculaire liée à l'âge

    N. Leveziel;C. Delcourt;J. Zerbib;H. Dollfus

Frequent Co-Authors

Dominique Bonneau
Dominique Bonneau University of Angers
Jean-Louis Mandel
Jean-Louis Mandel Institute of Genetics and Molecular and Cellular Biology
Nicholas Katsanis
Nicholas Katsanis Galatea Bio Inc
Jean-Michel Rozet
Jean-Michel Rozet Université Paris Cité
Josseline Kaplan
Josseline Kaplan Université Paris Cité
Alain Verloes
Alain Verloes Université Paris Cité
Didier Lacombe
Didier Lacombe University of Bordeaux
Sylvie Odent
Sylvie Odent University of Rennes
Erica E. Davis
Erica E. Davis Lurie Children's Hospital

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