World's Best Scientists 2026 revealed!
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Genetics
France
2024
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Medicine

D-Index
93
Citations
30844
World Ranking
10914
National Ranking
338

Genetics

D-Index
93
Citations
29415
World Ranking
976
National Ranking
29

Jeanne Amiel 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 Jeanne Amiel 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: 371 publications — 85th percentile

85% of scientists in this discipline score the same or lower.

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

Jeanne Amiel 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 Jeanne Amiel 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: 93 D-Index — 78th percentile

78% 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

Jeanne Amiel is affiliated with Université Paris Cité in France and specializes in research at the intersection of biochemistry, genetics, molecular biology, and medicine. Their scholarly work encompasses 189 publications in these broad fields, with specific focus in genetics, molecular biology, surgery, pediatrics, perinatology, child health, and pulmonary and respiratory medicine.

Their research addresses key topics including:

  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Craniofacial Disorders and Treatments
  • Cleft Lip and Palate Research
  • RNA modifications and cancer
  • RNA Research and Splicing

Throughout their career, Jeanne Amiel has contributed to numerous peer-reviewed journals frequently publishing in:

  • American Journal of Medical Genetics Part A
  • The American Journal of Human Genetics
  • Genetics in Medicine
  • Nature Communications
  • bioRxiv (Cold Spring Harbor Laboratory)

Selected recent papers by Jeanne Amiel include:

  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita, 2021, Journal of Medical Genetics
  • Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine, 2021, Nature Communications
  • ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development, 2020, Nature Communications
  • Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder, 2021, Nature Communications
  • Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans, 2021, Journal of Clinical Investigation

Jeanne Amiel has collaborated extensively with other researchers. Frequent co-authors include:

  • Christopher T. Gordon
  • Stanislas Lyonnet
  • Marlène Rio
  • Tania Attié-Bitach
  • Arnaud Picard

Best Publications

  • Lamin a truncation in hutchinson-gilford progeria

    Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Pierre Cau;Claire Navarro

  • Hirschsprung disease, associated syndromes and genetics: a review

    Jeanne Amiel;Stanislas Lyonnet

  • Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

    Isabelle Janoueix-Lerosey;Delphine Lequin;Delphine Lequin;Laurence Brugières;Agnès Ribeiro

  • SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

    Véronique Pingault;Nadège Bondurand;Kirsten Kuhlbrodt;Derk E. Goerich

  • Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

    Jeanne Amiel;Béatrice Laudier;Tania Attié-Bitach;Ha Trang

  • Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

    Patrick Edery;Tania Attie;Jeanne Amiel;Anna Pelet

  • Targeted therapy in patients with PIK3CA-related overgrowth syndrome

    Quitterie Venot;Thomas Blanc;Thomas Blanc;Thomas Blanc;Smail Hadj Rabia;Smail Hadj Rabia;Laureline Berteloot

  • 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

  • Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

    Isabelle Valnot;Sandrine Osmond;Nadine Gigarel;Blandine Mehaye

  • Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

    Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker

  • Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

    Delphine Trochet;Franck Bourdeaut;Isabelle Janoueix-Lerosey;Anne Deville

  • Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

    Jeanne Amiel;Marlène Rio;Loïc de Pontual;Richard Redon

  • Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

    M-L Jacquemont;D Sanlaville;R Redon;O Raoul

  • Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

    Tania Attié;Anna Pelet;Patrick Edery;Charis Eng;Charis Eng

  • Germline deletion of the miR-17 ∼ 92 cluster causes skeletal and growth defects in humans

    Loïc de Pontual;Loïc de Pontual;Evelyn Yao;Patrick Callier;Laurence Faivre

  • Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

    Céline Cluzeau;Smail Hadj-Rabia;Marguerite Jambou;Sourour Mansour

  • A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

    Véronique Dubreuil;Nélina Ramanantsoa;Delphine Trochet;Vanessa Vaubourg

  • Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Nadege Bondurand;Nadege Bondurand;Florence Dastot-Le Moal;Laure Stanchina;Laure Stanchina;Nathalie Collot

  • CHARGE syndrome: Report of 47 cases and review

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

  • Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

    Tania Attié;Marianne Till;Anna Pelet;Jeanne Amiel

Frequent Co-Authors

Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Michel Vekemans
Michel Vekemans Université Paris Cité
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Laurence Faivre
Laurence Faivre University of Burgundy
Marlène Rio
Marlène Rio Université Paris Cité
Nathalie Boddaert
Nathalie Boddaert Université Paris Cité
Christine Bole-Feysot
Christine Bole-Feysot Imagine Institute for Genetic Diseases
Didier Lacombe
Didier Lacombe University of Bordeaux

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