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Agnès Rötig

Active 1989–2024

115
Papers
19,777
Citations
86
h-index
112
i10-index

Citations

Citations per year for Agnès Rötig1966: 1 citations1989: 2 citations1990: 6 citations1991: 13 citations1992: 21 citations1993: 17 citations1994: 36 citations1995: 28 citations1996: 55 citations1997: 51 citations1998: 75 citations1999: 96 citations2000: 119 citations2001: 187 citations2002: 145 citations2003: 212 citations2004: 151 citations2005: 154 citations2006: 135 citations2007: 172 citations2008: 236 citations2009: 189 citations2010: 223 citations2011: 188 citations2012: 203 citations2013: 211 citations2014: 185 citations2015: 162 citations2016: 164 citations2017: 112 citations2018: 136 citations2019: 458 citations2020: 497 citations2021: 479 citations2022: 369 citations2023: 250 citations2024: 401 citations2025: 157 citations2026: 4 citations1967–1988: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 1,735 citing papers, 23.4% of this breakdownUnited Kingdom: 658 citing papers, 8.9% of this breakdownFrance: 580 citing papers, 7.8% of this breakdownGermany: 556 citing papers, 7.5% of this breakdownItaly: 438 citing papers, 5.9% of this breakdownChina: 405 citing papers, 5.5% of this breakdownSpain: 248 citing papers, 3.4% of this breakdownCanada: 246 citing papers, 3.3% of this breakdownNetherlands: 241 citing papers, 3.3% of this breakdownAustralia: 238 citing papers, 3.2% of this breakdownJapan: 176 citing papers, 2.4% of this breakdownSweden: 131 citing papers, 1.8% of this breakdown
0%23.4%Other 23.6%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology63.3%
  • Medicine20.7%
  • Neuroscience8.8%
  • Immunology and Microbiology3%
  • Nursing1.4%
  • Energy1%
  • Other1.8%

Topics

  • Mitochondrial Function and Pathology17.7%
  • Metabolism and Genetic Disorders8.1%
  • ATP Synthase and ATPases Research6.4%
  • Genetic Neurodegenerative Diseases3.3%
  • RNA modifications and cancer3%
  • Cancer, Hypoxia, and Metabolism2.4%
  • Other59.1%

Coauthors

All papers

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  1. Mitochondrial double-stranded RNA triggers antiviral signalling in humans

    Authors: Ashish Dhir, Somdutta Dhir, Lukasz S. Borowski, Laura Jiménez, Michael A. Teitell, Agnès Rötig, Yanick J. Crow, Gillian Rice, Darragh Duffy, Christelle Tamby, Takayuki Nojima, Arnold Münnich, Manuel Schiff, Claudia Ribeiro de Almeida, Jan Rehwinkel, Andrzej Dziembowski, Roman J. Szczęsny, Nicholas Proudfoot - Nature 2018 cited by 649

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

    Authors: Nathalie Boddaert, Kim‐Hanh Le Quan Sang, Agnès Rötig, Anne Leroy‐Willig, Serge Gallet, Françis Brunelle, Daniel Sidi, Jean‐Christophe Thalabard, Arnold Münnich, Z. Ioav Cabantchik - Blood 2007 cited by 407

  3. OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

    Authors: Ghizlane Elachouri, Sara Vidoni, Claudia Zanna, Alexandre Pattyn, Hassan Boukhaddaoui, Karen Gaget, Patrick Yu‐Wai‐Man, Giuseppe Gasparre, Emmanuelle Sarzi, Cécile Delettre, Aurélien Olichon, Dominique Loiseau, Pascal Reynier, Patrick F. Chinnery, Agnès Rötig, Valério Carelli, Christian Hamel, Michela Rugolo, Guy Lenaers - Genome Research 2010 cited by 231

  4. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

    Authors: Metodi D. Metodiev, Kyle Thompson, Charlotte L. Alston, Andrew A. M. Morris, Langping He, Zarah Assouline, Marlène Rio, Nadia Bahi‐Buisson, Angela Pyle, Helen Griffin, Stefan J. Siira, Aleksandra Filipovska, Arnold Münnich, Patrick F. Chinnery, Robert McFarland, Agnès Rötig, Robert W. Taylor - The American Journal of Human Genetics 2016 cited by 118

  5. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    Authors: Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne de Saint Martin, Marie‐Thérèse Abi Wardé, Monique G.M. de Sain-van der Velde, Judith Jans, Jeanne Amiel, Žiga Avsec, Christian Mertes, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis‐Flucklinger - The American Journal of Human Genetics 2016 cited by 93

  6. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    Authors: Sahar Elouej, Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean‐François Deleuze, Agnès Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande‐Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre‐Giovannoli - Nature Communications 2020 cited by 64

  7. Biochemical and molecular investigations in respiratory chain deficiencies

    Authors: Pierre Rustin, Dominique Chrétien, Thomas Bourgeron, Bénédicte Gérard, Agnès Rötig, Jean‐Marie Saudubray, Arnold Münnich - Clinica Chimica Acta 1994 cited by 1,228

  8. Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

    Authors: Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, Martina Bucher, Felix Dıstelmaıer, Elisabeth Graf, Mirjana Gušić, Maja Hempel, Lea Kulterer, Johannes A. Mayr, Thomas Meitinger, Christian Mertes, Metodi D. Metodiev, Agnieszka Nadel, Alessia Nasca, Akira Ohtake, Yasushi Okazaki, Rikke Katrine Jentoft Olsen, Dorota Piekutowska‐Abramczuk, Agnès Rötig, René Santer, Detlev Schindler, Abdelhamid Slama, Christian Staufner, Tim M. Strom, Patrick Verloo, Jürgen‐Christoph von Kleist-Retzow, Saskia B. Wortmann, Vicente A. Yépez, Costanza Lamperti, Daniele Ghezzi, Kei Murayama, Christina Ludwig, Julien Gagneur, Holger Prokisch - medRxiv 2021 cited by 46

  9. Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

    Authors: Agnès Rötig, Pascale de Lonlay, Dominique Chrétien, Françoise Foury, Michel Kœnig, Daniel Sidi, Arnold Münnich, Pierre Rustin - Nature Genetics 1997 cited by 991

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

    Authors: Alice Bourdon, Limor Minai, Valérie Serre, Jean‐Philippe Jaïs, Emmanuelle Sarzi, Sophie Aubert, Dominique Chrétien, Pascale de Lonlay, Véronique Paquis‐Flucklinger, Hirofumi Arakawa, Yusuke Nakamura, Arnold Münnich, Agnès Rötig - Nature Genetics 2007 cited by 525

  11. Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

    Authors: Pierre Rustin, Arnold Münnich, Agnès Rötig - European Journal of Human Genetics 2002 cited by 257

  12. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

    Authors: Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marlène Rio, Nathalie Boddaert, Zahra Assouline, Mingma D. Sherpa, Eric E. Schadt, Sander M. Houten, James R. Byrnes, Elizabeth M. McCormick, Zarazuela Zolkipli‐Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E. Calvo, Vamsi K. Mootha, John Christodoulou, Agnès Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J. Falk, Metodi D. Metodiev, David R. Thorburn - The American Journal of Human Genetics 2017 cited by 126

  13. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

    Authors: Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, Élise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole‐Feysot, Patrick Nitschké, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J. Rodenburg, G. Christoph Korenke, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Agnès Rötig, Chris Ottolenghi, Johannes A. Mayr, Pascale de Lonlay - The American Journal of Human Genetics 2017 cited by 93

  14. FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

    Authors: Antoine Paul, Anthony Drecourt, Floriane Petit, D. Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, L. Mahieu, D. Bouccara, Josseline Kaplan, Georges Challe, C. Domange, Fanny Mochel, Olivier Sterkers, S. Gerber, Patrick Nitschké, Christine Bôle‐Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Aïssa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin - The American Journal of Human Genetics 2017 cited by 91

  15. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    Authors: Saskia F. Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis Sloan, Ziming Ji, Letian Xie, Leonardo Salviati, Toby W. Hurd, Virginia Vega-Warner, Paul D. Killen, Yehoash Raphael, Shazia Ashraf, Buğsu Övünç, Dominik S. Schoeb, Heather M. McLaughlin, Rannar Airik, Christopher N. Vlangos, Rasheed Gbadegesin, Bernward Hinkes, Pawaree Saisawat, Eva Trevisson, Mara Doimo, Alberto Casarin, Vanessa Pertegato, Gianpietro Giorgi, Holger Prokisch, Agnès Rötig, Gudrun Nürnberg, Christian Becker, Su Wang, Fatih Özaltın, Rezan Topaloğlu, Ayşı̇n Bakkaloğlu, Sevcan A. Bakkaloğlu, Dominik N. Müller, Antje Beissert, Sevgı Mır, Afig Berdelı, Seza πzen, Martin Zenker, Verena Matejas, Carlos Santos‐Ocaña, Plácido Navas, Takehiro Kusakabe, Andreas Kispert, Sema Akman, Neveen A. Soliman, Stefanie Krick, Peter Mündel, Jochen Reiser, Peter Nürnberg, Catherine F. Clarke, Roger C. Wiggins, Christian Faul, Friedhelm Hildebrandt - Journal of Clinical Investigation 2011 cited by 400

  16. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

    Authors: Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnès Rötig, Ivan Tarassov, Orly Elpeleg - The American Journal of Human Genetics 2009 cited by 227

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

    Authors: Thomas Bourgeron, Pierre Rustin, Dominique Chrétien, Mark A. Birch‐Machin, Marie Bourgeois, E. Viégas-Pèquignot, Arnold Münnich, Agnès Rötig - Nature Genetics 1995 cited by 725

  18. Genetic diagnosis of Mendelian disorders via RNA sequencing

    Authors: Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoît Funalot, Alice Donati, Valeria Tiranti, Anne Lombès, Claude Jardel, Dieter Gläser, Robert W. Taylor, Daniele Ghezzi, Johannes A. Mayr, Agnès Rötig, Peter Freisinger, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch - Nature Communications 2016 cited by 597

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

    Authors: Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra, Franco Carrara, Pio D’Adamo, Sarah E. Calvo, Renè Massimiliano Marsano, Claudia Donnini, Hans Weiher, Pietro Strisciuglio, Rossella Parini, Emmanuelle Sarzi, Alicia Chan, Salvatore DiMauro, Agnès Rötig, Paolo Gasparini, Iliana Ferrero, Vamsi K. Mootha, Valeria Tiranti, Massimo Zeviani - Nature Genetics 2006 cited by 418

  20. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Authors: Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela Müller, Gerard Muñoz‐Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska‐Abramczuk, Antònia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch - Genome Medicine 2022 cited by 207

  21. Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

    Authors: Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, Metodi D. Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W. Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr, Sarah F. Pearce, Christopher A. Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W. Sommerville, Angela Pyle, Patrick F. Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, Bénédict Mousson de Camaret, Dominique Chrétien, Arnold Münnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M. Strom, Thomas Meitinger, Enrico Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B. Haack, Michal Minczuk, Holger Prokisch - The American Journal of Human Genetics 2014 cited by 158

  22. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Authors: Birgit Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnès Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An I. Jonckheere, Arnold Münnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Østergaard, Ewa Pronicka, Germaine Pierre, Hubert J.M. Smeets, Ilka Wittig, Ingrid Scurr, I.F.M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda De Meırleır, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie‐Cécile Nassogne, Han L, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia B. Wortmann - Orphanet Journal of Rare Diseases 2018 cited by 87

  23. Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts

    Authors: Floriane Petit, Anthony Drecourt, Michaël Dussiot, Coralie Zangarelli, Olivier Hermine, Arnold Münnich, Agnès Rötig - Blood 2021 cited by 41

  24. 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

    Authors: Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Pierre Rustin, Jean‐Jacques Mourad, Pierre‐François Plouin, Pierre Corvol, Agnès Rötig, Xavier Jeunemaı̂tre - The American Journal of Human Genetics 2001 cited by 366