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Genetics
France
2024

D-Index & Metrics

Genetics

D-Index
68
Citations
14853
World Ranking
2442
National Ranking
111

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award

Overview

Jean-Paul Bonnefont is affiliated with the Necker-Enfants Malades Hospital in France, contributing to the fields of biochemistry, genetics, molecular biology, and medicine. Their research spans various subfields such as molecular biology, clinical biochemistry, genetics, surgery, and physiology. The scientist's work addresses several main topics, including mitochondrial function and pathology, metabolism and genetic disorders, RNA modifications and cancer, genetics and neurodevelopmental disorders, ubiquitin and proteasome pathways, RNA and protein synthesis mechanisms, and genomics and rare diseases.

Bonnefont has published in a number of scientific journals, with recurring appearances in venues like La Revue de Médecine Interne, European Journal of Medical Genetics, Genetics in Medicine, Journal of Inherited Metabolic Disease, and Life.

The following recent papers illustrate the breadth of their research:

  • PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review, 2020, European Journal of Medical Genetics
  • A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders, 2020, Genetics in Medicine
  • OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort, 2021, Journal of Inherited Metabolic Disease
  • Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival, 2020, European Journal of Human Genetics
  • Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy, 2023, Life

Bonnefont frequently collaborates with other researchers in the field. Regular coauthors include Arnold Münnich, Agnès Rötig, Giulia Barcia, Pascale de Lonlay, and Zahra Assouline, reflecting a strong network of colleagues involved in genetic and metabolic disorder research.

Best Publications

  • Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

    Jean-Paul Bonnefont;Fatima Djouadi;Carina Prip-Buus;Stephanie Gobin

  • Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

    A Rötig;V Cormier;S Blanche;J P Bonnefont

  • 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

  • Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

    P de Lonlay;J C Fournet;J Rahier;M S Gross-Morand

  • Recognition and management of fatty acid oxidation defects: a series of 107 patients.

    J. M. Saudubray;D. Martin;P. De Lonlay;G. Touati

  • 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

  • Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

    A Rotig;M Colonna;J.P Bonnefont;S Blanche

  • Carnitine Palmitoyltransferase Deficiencies

    Jean-Paul Bonnefont;Carina Prip-Buus;Jean-Marie Saudubray

  • Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

    Mireille Claustres;Caroline Guittard;Dominique Bozon;Françoise Chevalier

  • Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

    F Demaugre;J P Bonnefont;M Colonna;C Cepanec

  • Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.

    Charles A. Stanley;Daniel E. Hale;Gerard T. Berry;Susan Deleeuw

  • Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia.

    A Goossens;W Gepts;J M Saudubray;J P Bonnefont

  • Clinical aspects of mitochondrial disorders.

    A. Munnich;P. Rustin;A. Rötig;D. Chretien

  • Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

    Charles A. Stanley;Susan DeLeeuw;Paul M. Coates;Christine Vianey‐Liaud

  • Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

    R.J.A. Wanders;L. Ijlst;F. Poggi;J.P. Bonnefont

  • The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

    J. P. Bonnefont;N. B. Specola;A. Vassault;A. Lombes

  • Clinical presentation of mitochondrial disorders in childhood.

    A. Munnich;A. Rötig;D. Chretien;V. Cormier

  • Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

    S. Kenwrick;H. Woffendin;T. Jakins;S. Garry Shuttleworth

  • Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

    Grant A. Mitchell;Damian Labuda;Gisele Fontaine;Jean Marie Saudubray

  • Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

    Jeanne Amiel;Valérie Raclin;Jean-Marie Jouannic;Nicole Morichon

Frequent Co-Authors

Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Marlène Rio
Marlène Rio Université Paris Cité
Nathalie Boddaert
Nathalie Boddaert Université Paris Cité
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Jeanne Amiel
Jeanne Amiel Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Jean-Michel Rozet
Jean-Michel Rozet Université Paris Cité
Josseline Kaplan
Josseline Kaplan Université Paris Cité

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