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Genetics
France
2024
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

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

Medicine

D-Index
93
Citations
30844
World Ranking
10915
National Ranking
337

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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