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Genetics
France
2026
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
120
Citations
55287
World Ranking
377
National Ranking
8

Research.com Recognitions

  • 2026 - Research.com Genetics in France Leader Award
  • 2025 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award
  • 2023 - Research.com Genetics in France Leader Award
  • 2023 - Research.com Genetics and Molecular Biology in France Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in France Leader Award
  • 1994 - Member of Academia Europaea

Overview

Jean-Louis Mandel is affiliated with the Institute of Genetics and Molecular and Cellular Biology in France. Their research primarily covers biochemistry, genetics, and molecular biology, with a total of 67 publications in the field. The scientist's work spans several subfields, including genetics, molecular biology, cognitive neuroscience, pediatrics, perinatology and child health, and cellular and molecular neuroscience.

The main research topics addressed by Mandel include:

  • Genetics and neurodevelopmental disorders
  • Genomics and rare diseases
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • Autism spectrum disorder research
  • Congenital heart defects research
  • RNA research and splicing

Mandel has contributed to various scientific journals and publication venues, including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine Open
  • The American Journal of Human Genetics
  • Clinical Genetics
  • European Journal of Cancer

Among the recent papers authored or co-authored by Mandel are:

  • "30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?" (2021) - The American Journal of Human Genetics
  • "Clinical practice guidelines for BRCA1 and BRCA2 genetic testing" (2021) - European Journal of Cancer
  • "Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X" (2022) - Nature Communications
  • "De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder" (2020) - The American Journal of Human Genetics
  • "Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations" (2020) - Journal of Medical Genetics

The scientist has frequent co-authors including Pauline Burger, Amélie Piton, David A. Koolen, Romain Coutelle, and David Geneviève.

Jean-Louis Mandel has also published a book titled Maladies rares in 2023, published by Érès eBooks.

In recognition of their academic standing, Mandel was elected as a Member of Academia Europaea in 1994.

Best Publications

  • Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

    Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese

  • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

    Oberlé I;Rousseau F;Heitz D;Kretz C

  • Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

    Jean Mosser;Anne-Marie Douar;Claude-Olivier Sarde;Petra Kioschis

  • Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

    Alexandra Dürr;Mireille Cossee;Yves Agid;Victoria Campuzano

  • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

    Georges Imbert;Frédéric Saudou;Frédéric Saudou;Gaël Yvert;Gaël Yvert;Didier Devys;Didier Devys

  • Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

    H.L Paulson;M.K Perez;Y Trottier;J.Q Trojanowski

  • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

    Gilles David;Nacer Abbas;Giovanni Stevanin;Alexandra Dürr

  • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.

    Didier Devys;Yves Lutz;Nicolas Rouyer;Jean-Pierre Bellocq

  • Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

    Victoria Campuzano;Laura Montermini;Yves Lutz;Lidia Cova

  • Report of the committee on the genetic constitution of the X chromosome

    K E Davies;J L Mandel;A P Monaco;R L Nussbaum

  • Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

    Yvon Trottier;Yves Lutz;Giovanni Stevanin;Georges Imbert

  • A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

    Jocelyn Laporte;Ling Jia Hu;Christine Kretz;Jean-Louis Mandel

  • Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

    Karim Ouahchi;Makoto Arita;Herbert Kayden;Fayçal Hentati

  • A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

    R. G. Walters;S. Jacquemont;A. Valsesia;A. Valsesia;A. Valsesia;A. J. de Smith

  • α-Amanitin: A specific inhibitor of one of two DNA-dependent RNA polymerase activities from calf thymus

    C. Kedinger;C. Kedinger;M. Gniazdowski;M. Gniazdowski;J.L. Mandel;J.L. Mandel;F. Gissinger;F. Gissinger

  • Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions.

    Astrid Lunkes;Katrin S. Lindenberg;Léa Ben-Haı̈em;Chantal Weber

  • Ovalbumin gene is split in chicken DNA

    R. Breathnach;J. L. Mandel;P. Chambon

  • Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.

    Yvon Trottier;Didier Devys;Georges Imbert;Frédéric Saudou

  • The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.

    Céline Schaeffer;Barbara Bardoni;Jean‐Louis Mandel;Bernard Ehresmann

  • Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

    François Rousseau;Dominique Heitz;Valérie Biancalana;Sandra Blumenfeld

Frequent Co-Authors

Hélène Dollfus
Hélène Dollfus University of Strasbourg
Amélie Piton
Amélie Piton University of Strasbourg
Michel Koenig
Michel Koenig University of Montpellier
Patrick Aubourg
Patrick Aubourg University of Paris-Saclay
Pierre Chambon
Pierre Chambon Institute of Genetics and Molecular and Cellular Biology
Roland Heilig
Roland Heilig University of Paris-Saclay
Barbara Bardoni
Barbara Bardoni Université Côte d'Azur
Alexis Brice
Alexis Brice Institut du Cerveau
Laurence Faivre
Laurence Faivre University of Burgundy
Alexandra Durr
Alexandra Durr Sorbonne University

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