World's Best Scientists 2026 revealed!
Agnès Rötig

Agnès Rötig

Award Badge
Genetics
France
2024
Award Badge
Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
95
Citations
31122
World Ranking
904
National Ranking
27

Research.com Recognitions

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

Overview

Agnès Rötig is affiliated with Inserm in France and has an extensive publication record focused on biochemistry, genetics, and molecular biology. Their research spans several subfields, including molecular biology, clinical biochemistry, genetics, cellular and molecular neuroscience, and neurology.

The scientist's recent publications demonstrate a focus on molecular diagnostics, mitochondrial function, and genetic disorders. Notable papers include:

  • Clinical implementation of RNA sequencing for Mendelian disease diagnostics, 2022, Genome Medicine
  • Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology, 2020, Nature Communications
  • Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders, 2021, bioRxiv (Cold Spring Harbor Laboratory)
  • Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts, 2021, Blood
  • Clinical implementation of RNA sequencing for Mendelian disease diagnostics, 2021, bioRxiv (Cold Spring Harbor Laboratory)

Their research covers a range of main topics, such as mitochondrial function and pathology, metabolism and genetic disorders, RNA modifications and cancer, genomics and rare diseases, ATP synthase and ATPases research, genetic neurodegenerative diseases, and biochemical and molecular research.

Frequent co-authors with multiple collaborative works include:

  • Giulia Barcia
  • Arnold Münnich
  • Manuel Schiff
  • Nathalie Boddaert
  • Isabelle Desguerre

They have published regularly in the following venues, which represent key outlets for their work:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Communications
  • Molecular Genetics and Metabolism
  • Genetics in Medicine
  • Human Reproduction

Their body of work reflects a commitment to integrating proteomic, genomic, and transcriptomic approaches to improve understanding and diagnostics of Mendelian and mitochondrial diseases. The scientist's research contributes to advancing the knowledge of molecular mechanisms underlying metabolism and genetic disorders, with implications for clinical biochemistry and neurological conditions.

Best Publications

  • Biochemical and molecular investigations in respiratory chain deficiencies

    P. Rustin;D. Chretien;T. Bourgeron;B. Gérard

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

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

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

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

  • Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues

    Stéphane Blanche;Marc Tardieu;Pierre Rustin;Abdelhamid Slama

  • 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

  • Mitochondrial double-stranded RNA triggers antiviral signalling in humans

    Ashish Dhir;Somdutta Dhir;Lukasz S. Borowski;Lukasz S. Borowski;Laura Jimenez

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

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

  • Genetic diagnosis of Mendelian disorders via RNA sequencing

    Laura S. Kremer;Daniel M. Bader;Daniel M. Bader;Christian Mertes;Robert Kopajtich

  • The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

    Anne-Paule Gimenez-Roqueplo;Judith Favier;Pierre Rustin;Jean-Jacques Mourad

  • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

    Antonella Spinazzola;Carlo Viscomi;Erika Fernandez-Vizarra;Franco Carrara

  • Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

    Nathalie Boddaert;Kim Hanh Le Quan Sang;Agnès Rötig;Anne Leroy-Willig

  • COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    Saskia F. Heeringa;Gil Chernin;Moumita Chaki;Weibin Zhou

  • 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

  • Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

    Pierre Rustin;Jürgen-Christoph von Kleist-Retzow;Karine Chantrel-Groussard;Daniel Sidi

  • Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

    Agnés Rötig;Eeva-Liisa Appelkvist;Vanna Geromel;Dominique Chretien

  • CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

    Julie Mollet;Agnès Delahodde;Valérie Serre;Dominique Chretien

  • A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

    Pascale De Lonlay;Isabelle Valnot;Antoni Barrientos;Marina Gorbatyuk

  • A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

    Isabelle Valnot;Jürgen Christoph Von Kleist-Retzow;Antonio Barrientos;Marina Gorbatyuk

  • Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.

    A O Hausse;Y Aggoun;D Bonnet;D Sidi

  • Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

    Julie Mollet;Irina Giurgea;Dimitri Schlemmer;Gustav Dallner

Frequent Co-Authors

Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Dominique Chretien
Dominique Chretien Grenoble Alpes University
Jean-Paul Bonnefont
Jean-Paul Bonnefont Necker-Enfants Malades Hospital
Nathalie Boddaert
Nathalie Boddaert Université Paris Cité
Thomas Bourgeron
Thomas Bourgeron Université Paris Cité
Marlène Rio
Marlène Rio Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Paule Bénit
Paule Bénit Grenoble Alpes University
Patrick Niaudet
Patrick Niaudet Necker-Enfants Malades Hospital

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Studying Genetics opens the door to a diverse range of online degrees and healthcare career pathways. For those interested in support roles within the medical field, earning a medical coding certification is a popular choice. This credential enables you to work with healthcare data, which complements a background in genetics and provides flexible job prospects.

Many students also consider enrolling in good nursing schools with high acceptance rates to pave the way for patient-focused roles. With the growing demand for qualified nurses, blending genetic science expertise with nursing skills can be a valuable career asset.

If you’re interested in leadership or administrative roles, pursuing an online health administration degree can help you drive innovation within hospitals or clinics. Affordable healthcare administration courses are also available, making this pathway accessible for students from various backgrounds.

Each of these degree and certification options can complement a foundation in genetics, expanding your career opportunities in the rapidly evolving healthcare industry.

Best Scientists Citing Agnès Rötig

Trending Scientists

Recently Published Articles