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Genetics
France
2026
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
149
Citations
86497
World Ranking
142
National Ranking
3

Medicine

D-Index
152
Citations
90475
World Ranking
1075
National Ranking
26

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
  • 2000 - Grand prix de l'Inserm - Institut national de la santé et de la recherche médicale

Overview

Arnold Munnich is affiliated with the Necker-Enfants Malades Hospital in France and has a significant body of research spanning multiple fields within biochemistry, genetics, molecular biology, and medicine. Their work draws attention to both fundamental molecular mechanisms and clinical implications, particularly in neurodevelopmental and metabolic disorders.

The scientist has published extensively in areas including molecular biology, genetics, neurology, clinical biochemistry, and developmental and educational psychology. The primary research themes evident in their work involve mitochondrial function and pathology, RNA modifications and cancer, metabolism and genetic disorders, genetics and neurodevelopmental disorders, barrier structure and function studies, RNA research and splicing, as well as reading and literacy development.

Arnold Munnich's recent notable publications include:

  • The CLDN5 gene at the blood-brain barrier in health and disease, 2023, Fluids and Barriers of the CNS
  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita, 2021, Journal of Medical Genetics
  • MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia, 2020, Nature Communications
  • Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia, 2022, Brain
  • Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts, 2021, Blood

The venues where Arnold Munnich has frequently published include:

  • Brain
  • Molecular Genetics and Metabolism
  • Frontiers in Pediatrics
  • Human Reproduction
  • Journal of Medical Genetics

Collaboration has played a significant role in their career, with several frequent coauthors contributing to their research. These include Agnès Rötig, Giulia Barcia, Nathalie Boddaert, Isabelle Desguerre, and Claude Besmond.

Arnold Munnich has received the Grand prix de l'Inserm awarded by the Institut national de la santé et de la recherche médicale in 2000.

Best Publications

  • Identification and characterization of a spinal muscular atrophy-determining gene

    Suzie Lefebvre;Lydie Bürglen;Sophie Reboullet;Olivier Clermont

  • Lamin a truncation in hutchinson-gilford progeria

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

  • Correlation between severity and SMN protein level in spinal muscular atrophy.

    Suzie Lefebvre;Philippe Burlet;Qing Liu;Solange Bertrandy

  • Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

    Francis Rousseau;Jacky Bonaventure;Laurence Legeai-Mallet;Anna Pelet

  • Defective myosin VIIA gene responsible for Usher syndrome type 1B

    Dominique Well;Stéphane Blanchard;Josseline Kaplan;Parry Guilford

  • Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.

    Agnès Rötig;Pascale de Lonlay;Dominique Chretien;Françoise Foury

  • Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

    Slaheddine Marrakchi;Philippe Guigue;Blair R. Renshaw;Anne Puel

  • Mutations of the RET proto-oncogene in Hirschsprung's disease

    Patrick Edery;Stanislas Lyonnet;Lois M. Mulligan;Anna Pelet

  • Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

    Asmae Smahi;G. Courtois;P. Vabres;S. Yamaoka

  • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

    Rainer Döffinger;Asma Smahi;Christine Bessia;Frédéric Geissmann

  • 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 a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

    Thomas Bourgeron;Pierre Rustin;Dominique Chretien;Mark Birch-Machin

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

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

  • Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

    Alice Bourdon;Limor Minai;Valérie Serre;Valérie Serre;Jean-Philippe Jais

  • De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

    Giulia Barcia;Matthew R Fleming;Aline Deligniere;Valeswara-Rao Gazula

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

    Patrick Edery;Tania Attie;Jeanne Amiel;Anna Pelet

  • Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

    Perrault I;Rozet Jm;Calvas P;Gerber S

  • 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

  • miR-122, a paradigm for the role of microRNAs in the liver

    Muriel Girard;Muriel Girard;Muriel Girard;Emmanuel Jacquemin;Arnold Munnich;Arnold Munnich;Arnold Munnich;Stanislas Lyonnet;Stanislas Lyonnet;Stanislas Lyonnet

  • SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

    V Belin;V Cusin;G Viot;D Girlich

Frequent Co-Authors

Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Jeanne Amiel
Jeanne Amiel Université Paris Cité
Michel Vekemans
Michel Vekemans Université Paris Cité
Jean-Paul Bonnefont
Jean-Paul Bonnefont Necker-Enfants Malades Hospital
Nathalie Boddaert
Nathalie Boddaert Université Paris Cité
Jean-Michel Rozet
Jean-Michel Rozet Université Paris Cité
Marlène Rio
Marlène Rio Université Paris Cité

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