World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
54
Citations
10437
World Ranking
3650
National Ranking
187

Sophie Saunier 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 Sophie Saunier 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: 101 publications — 8th percentile

8% of scientists in this discipline score the same or lower.

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

Sophie Saunier 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 Sophie Saunier 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: 54 D-Index — 17th percentile

17% of scientists in this discipline score the same or lower.

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

Overview

Sophie Saunier is affiliated with Université Paris Cité in France and has an extensive publication record focusing on genetic and kidney-related diseases. Their work spans multiple fields, including Biochemistry, Genetics and Molecular Biology, and Medicine.

The scientist has contributed significantly to several subfields such as Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Artificial Intelligence, and Pathology and Forensic Medicine.

Saunier's research addresses critical topics including Genetic and Kidney Cyst Diseases, Renal and related cancers, Genomics and Rare Diseases, Biomedical Research and Pathophysiology, Biomedical Text Mining and Ontologies, Fetal and Pediatric Neurological Disorders, and Pediatric Urology and Nephrology Studies.

Frequent publication venues for Saunier include:

  • Kidney International
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Orphanet Journal of Rare Diseases
  • Studies in health technology and informatics
  • Journal of Visualized Experiments

Key recent papers authored or co-authored by Saunier include:

  • Diagnosis support systems for rare diseases: a scoping review, 2020, Orphanet Journal of Rare Diseases
  • Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies, 2022, Proceedings of the National Academy of Sciences
  • The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies, 2023, Kidney International
  • Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis, 2021, Frontiers in Cell and Developmental Biology
  • Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia, 2020, Kidney International

Saunier often collaborates with several researchers in their field. Frequent co-authors include:

  • Alexandre Benmerah
  • Xiaoyi Chen
  • Nicolas Garcelon
  • Anita Burgun
  • Amandine Viau

Best Publications

  • The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

    Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef

  • 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

  • Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  • The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

    Anahi Molla-Herman;Rania Ghossoub;Rania Ghossoub;Thierry Blisnick;Alice Meunier

  • Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  • INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

    Olivia Boyer;Fabien Nevo;Emmanuelle Plaisier;Benoit Funalot

  • Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

    Jan Halbritter;Albane A. Bizet;Miriam Schmidts;Jonathan D. Porath

  • The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

    Lekbir Baala;Stéphane Romano;Rana Khaddour;Sophie Saunier

  • Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

    Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand

  • The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

    Géraldine Mollet;Rémi Salomon;Olivier Gribouval;Flora Silbermann

  • Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

    Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  • ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

    Sylvia Hoff;Jan Halbritter;Daniel Epting;Valeska Frank

  • High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of NPHP6 and AHI1 Mutations in Patients with NPHP1 Mutations

    Kálmán Tory;Tiphanie Lacoste;Lydie Burglen;Vincent Morinière

  • A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

    S Saunier;J Calado;R Heilig;F Silbermann

  • Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

    Géraldine Mollet;Flora Silbermann;Marion Delous;Rémi Salomon

  • Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

    Martin Konrad;Sophie Saunier;Laurence Heidet;Flora Silbermann

  • Nephronophthisis

    Rémi Salomon;Sophie Saunier;Patrick Niaudet

  • Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

    Sophie Saunier;Joaquim Calado;Flora Silbermann

Frequent Co-Authors

Corinne Antignac
Corinne Antignac Institut Imagine
Friedhelm Hildebrandt
Friedhelm Hildebrandt Boston Children's Hospital
Alexandre Benmerah
Alexandre Benmerah Institut Imagine
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Edgar A. Otto
Edgar A. Otto University of Michigan–Ann Arbor
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Patrick Nitschke
Patrick Nitschke Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Isabelle Perrault
Isabelle Perrault Université Paris Cité

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