Agnès Rötig

24.7k total citations · 4 hit papers
251 papers, 15.9k citations indexed

About

Agnès Rötig is a scholar working on Molecular Biology, Clinical Biochemistry and Cellular and Molecular Neuroscience. According to data from OpenAlex, Agnès Rötig has authored 251 papers receiving a total of 15.9k indexed citations (citations by other indexed papers that have themselves been cited), including 220 papers in Molecular Biology, 138 papers in Clinical Biochemistry and 24 papers in Cellular and Molecular Neuroscience. Recurrent topics in Agnès Rötig's work include Mitochondrial Function and Pathology (189 papers), Metabolism and Genetic Disorders (138 papers) and ATP Synthase and ATPases Research (74 papers). Agnès Rötig is often cited by papers focused on Mitochondrial Function and Pathology (189 papers), Metabolism and Genetic Disorders (138 papers) and ATP Synthase and ATPases Research (74 papers). Agnès Rötig collaborates with scholars based in France, United States and United Kingdom. Agnès Rötig's co-authors include Arnold Münnich, Pierre Rustin, Dominique Chrétien, Thomas Bourgeron, Jean‐Marie Saudubray, Pascale de Lonlay, Valérie Cormier‐Daire, Daniel Sidi, Bénédicte Gérard and Jean‐Paul Bonnefont and has published in prestigious journals such as Nature, The Lancet and Journal of Biological Chemistry.

In The Last Decade

Agnès Rötig

247 papers receiving 15.6k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Biochemical and molecular investigations in respiratory chain deficiencies

1994 1.1k citations Pierre Rustin, Dominique Chrétien et al. Clinica Chimica Acta profile →
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

1997 786 citations Agnès Rötig, Pascale de Lonlay et al. profile →
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1995 544 citations Thomas Bourgeron, Pierre Rustin et al. profile →
Mitochondrial double-stranded RNA triggers antiviral signalling in humans

2018 417 citations Agnès Rötig, Arnold Münnich et al. profile →

Peers

Countries citing papers authored by Agnès Rötig

Since Specialization

Citations

This map shows the geographic impact of Agnès Rötig's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Agnès Rötig with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Agnès Rötig more than expected).

Fields of papers citing papers by Agnès Rötig

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Agnès Rötig. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Agnès Rötig. The network helps show where Agnès Rötig may publish in the future.

Co-authorship network of co-authors of Agnès Rötig

This figure shows the co-authorship network connecting the top 25 collaborators of Agnès Rötig. A scholar is included among the top collaborators of Agnès Rötig based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Agnès Rötig. Agnès Rötig is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb 2024 ·Frontiers in Genetics ·Lamisse Mansour‐Hendili, Cyril Gitiaux, (unknown), Céline Latouche, Bénédicte Héron, Tanya Stojkovic, (unknown), Thomas Smol, (unknown), Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédèric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre	1
2	Polyradiculoneuritis on MRI 2024 ·Neurology ·Charles‐Joris Roux, (unknown), Marie Hully, Agnès Rötig, Manuel Schiff, Pascale de Lonlay, Mélodie Aubart, Marianne Alison, (unknown), R. Lévy, Volodia Dangouloff‐Ros, Giulia Barcia, Isabelle Desguerre, Arnold Münnich, Cyril Gitiaux, Nathalie Boddaert	0
3	Successful treatment of severe MSUD in Bckdhb^−/− mice with neonatal AAV gene therapy 2023 ·Journal of Inherited Metabolic Disease ·Clément Pontoizeau, (unknown), (unknown), (unknown), (unknown), Marion Benoist, Pasqualina Colella, Antonin Lamazière, Anaïs Brassier, Jean‐Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff	4
4	Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy 2023 ·Life ·(unknown), Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Münnich, Jean‐Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev	4
5	A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases 2023 ·Human Reproduction ·(unknown), Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschké, Fabienne Jabot‐Hanin, Agnès Rötig, Sophie Monnot, Arnold Münnich, Nelly Frydman, Julie Steffann	3
6	Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice 2022 ·Nature Communications ·Clément Pontoizeau, (unknown), (unknown), (unknown), (unknown), (unknown), Pasqualina Colella, M Girard, Maria Grazia Biferi, Jean‐Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff	14
7	Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders 2021 ·Developmental Medicine & Child Neurology ·(unknown), Benedetta Ruzzenente, Charles‐Joris Roux, Giulia Barcia, (unknown), Isabelle Desguerre, Agnès Rötig, Arnold Münnich, Nathalie Boddaert, (unknown)	4
8	Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? 2020 ·Journal of Medical Genetics ·(unknown), Agnès Rötig, Charles‐Joris Roux, R. Lévy, Marco Henneke, Jutta Gärtner, (unknown), (unknown), Uluç Yiş, Laura Konczal, (unknown), (unknown), Pauline Gaignard, Claude Besmond, Laurence Hubert, Marlène Rio, Giulia Barcia, Arnold Münnich, Nathalie Boddaert, Manuel Schiff	5
9	Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival 2020 ·European Journal of Human Genetics ·Giulia Barcia, Marlène Rio, Zahra Assouline, (unknown), Charles‐Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Münnich, Jean‐Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D. Metodiev, Benedetta Ruzzenente	8
10	High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency 2018 ·Journal of Medical Genetics ·(unknown), D. Grévent, Marlène Rio, Isabelle Desguerre, Pascale de Lonlay, R. Lévy, Volodia Dangouloff‐Ros, Jean‐Paul Bonnefont, Giulia Barcia, Benoît Funalot, Claude Besmond, Metodi D. Metodiev, Benedetta Ruzzenente, Zahra Assouline, Arnold Münnich, Agnès Rötig, Nathalie Boddaert	12
11	Acute Infantile Liver Failure Due to Mutations in the TRMU Gene 2010 ·The American Journal of Human Genetics ·Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, (unknown), Hanna Mandel, (unknown), Reeval Segel, Daphna Marom, Agnès Rötig, Ivan Tarassov, Orly Elpeleg	4
12	Genetic causes of mitochondrial DNA depletion in humans 2009 ·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·Agnès Rötig, Joanna Poulton	62
13	Acute Infantile Liver Failure Due to Mutations in the TRMU Gene 2009 ·The American Journal of Human Genetics ·Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, (unknown), Hanna Mandel, (unknown), Reeval Segel, Daphna Marom, Agnès Rötig, Ivan Tarassov, Orly Elpeleg	161
14	Renal disease and mitochondrial genetics 2003 ·Journal of Nephrology ·Agnès Rötig	37
15	Mutations in BCS1, a mitochondrial respiratory chain assembly gene, are responsible for complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 2001 ·UCL Discovery (University College London) ·Pascale de Lonlay, Isabelle Valnot, (unknown), Marina S. Gorbatyuk, Alexander Tzagoloff, Jan‐Willem Taanman, Dominique Chrétien, N. Kadhom, Anne Lombès, (unknown), Patrick Niaudet, Arnold Münnich, Pierre Rustin, Agnès Rötig	3
16	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 2001 ·The American Journal of Human Genetics ·Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Pierre Rustin, Jean‐Jacques Mourad, Pierre‐François Plouin, Pierre Corvol, Agnès Rötig, Xavier Jeunemaı̂tre	292
17	Frataxin gene expansion causes aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia 1998 ·European Journal of Human Genetics ·Agnès Rötig, Pascale de Lonlay, Dominique Chrétien, Françoise Foury, M. Koenig, Daniel Sidi, A Munnich, Pierre Rustin	2
18	Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 1994 ·Journal of Clinical Investigation ·Thomas Bourgeron, Dominique Chrétien, (unknown), Shawn Doonan, Daniel Rabier, (unknown), Arnold Münnich, Agnès Rötig, P. Landrieu, Pierre Rustin	114
19	Reference charts for respiratory chain activities in human tissues 1994 ·Clinica Chimica Acta ·Dominique Chrétien, Pierre Rustin, Thomas Bourgeron, Agnès Rötig, Jean Marie Saudubray, Arnold Münnich	120
20	3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects 1992 ·The Journal of Pediatrics ·K. Michael Gibson, Malcolm J. Bennett, Charles E. Mize, C. Jakobs, Agnès Rötig, Arnold Münnich, Uta Lichter‐Konecki, Friedrich K. Trefz	42

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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