World's Best Scientists 2026 revealed!
Dominique Bonneau

Dominique Bonneau

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Genetics
France
2024
Award Badge
Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
83
Citations
25271
World Ranking
1416
National Ranking
52

Medicine

D-Index
82
Citations
25616
World Ranking
16079
National Ranking
525

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Dominique Bonneau is affiliated with the University of Angers in France and has a research focus within the broad discipline of Biochemistry, Genetics and Molecular Biology, with 173 publications in this area. Their work spans several key subfields, including Molecular Biology, Genetics, Clinical Biochemistry, Cell Biology, and Neurology.

Their research covers several main topics, notably Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Genomic Variations and Chromosomal Abnormalities, ATP Synthase and ATPases Research, and RNA Modifications and Cancer.

Among recent publications, the following papers illustrate the scope of their scientific contributions:

  • Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome, 2020, The American Journal of Human Genetics
  • A Data Mining Metabolomics Exploration of Glaucoma, 2020, Metabolites
  • Effects of eight neuropsychiatric copy number variants on human brain structure, 2021, Translational Psychiatry
  • Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy, 2020, Neurology Genetics
  • Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities, 2021, The American Journal of Human Genetics

Dominique Bonneau frequently publishes in several key scientific journals including:

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

Collaborative work is an important element of their research, with frequent co-authors including Estelle Colin, Alban Ziegler, Guy Lenaers, Vincent Procaccio, and Bertrand Isidor. These collaborations contribute to advancing knowledge in genetics and related biomedical fields.

Best Publications

  • The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

    Crisponi L;Deiana M;Loi A;Chiappe F

  • Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Claire S. Leblond;Caroline Nava;Anne Polge;Julie Gauthier

  • Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

    Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  • OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes

    Patrizia Amati-Bonneau;Maria Lucia Valentino;Pascal Reynier;Maria Esther Gallardo

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • Mutations in TUBG1 , DYNC1H1 , KIF5C and KIF2A cause malformations of cortical development and microcephaly

    Karine Poirier;Nicolas Lebrun;Nicolas Lebrun;Loic Broix;Loic Broix;Guoling Tian

  • Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Claire S. Leblond;Jutta Heinrich;Richard Delorme;Christian Proepper

  • Multi-system neurological disease is common in patients with OPA1 mutations

    Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;G. Gorman;C.-M. Lourenco

  • Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells

    Valérie Desquiret-Dumas;Valérie Desquiret-Dumas;Naïg Gueguen;Naïg Gueguen;Géraldine Leman;Géraldine Leman;Stéphanie Baron

  • X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

    P. Saugier-Veber;A. Munnich;D. Bonneau;J.-M. Rozet

  • Mutations of the human PTEN gene.

    Dominique Bonneau;Michel Longy

  • High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

    Virginie Bubien;Françoise Bonnet;Françoise Bonnet;Veronique Brouste;Stéphanie Hoppe

  • Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.

    Carole Beaumont;Patricia Leneuve;Isabelle Devaux;Jean-Yves Scoazec

  • Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

    Tom Hearn;Glenn L. Renforth;Cosma Spalluto;Neil A. Hanley

  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

    Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  • Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    Davina J Hensman Moss;Antonio F Pardiñas;Douglas Langbehn;Kitty Lo

  • Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

    Mitsuhiro Kato;Soma Das;Kristin Petras;Kunio Kitamura

  • BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

    Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller

  • Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)

    Darryl Y. Nishimura;Charles C. Searby;Rivka Carmi;Khalil Elbedour

  • A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2

    F Canzian;P Amati;H R Harach;J L Kraimps

Frequent Co-Authors

Pascal Reynier
Pascal Reynier University of Angers
Vincent Procaccio
Vincent Procaccio University of Angers
Guy Lenaers
Guy Lenaers University of Angers
Hélène Dollfus
Hélène Dollfus University of Strasbourg
Jean-Michel Rozet
Jean-Michel Rozet Université Paris Cité
Didier Lacombe
Didier Lacombe University of Bordeaux
Alain Verloes
Alain Verloes Université Paris Cité
Sylvie Odent
Sylvie Odent University of Rennes
Josseline Kaplan
Josseline Kaplan Université Paris Cité

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