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Markus Schuelke

Active 1998–2025

78
Papers
20,486
Citations
54
h-index
72
i10-index

Citations

Citations per year for Markus Schuelke1978: 1 citations1984: 1 citations1987: 2 citations1990: 1 citations1998: 3 citations1999: 8 citations2000: 7 citations2001: 30 citations2002: 10 citations2003: 27 citations2004: 37 citations2005: 40 citations2006: 52 citations2007: 75 citations2008: 92 citations2009: 93 citations2010: 122 citations2011: 176 citations2012: 179 citations2013: 189 citations2014: 204 citations2015: 229 citations2016: 223 citations2017: 155 citations2018: 161 citations2019: 646 citations2020: 648 citations2021: 582 citations2022: 392 citations2023: 220 citations2024: 458 citations2025: 163 citations2026: 4 citations1979–1983: no citations, so these years are not shown1985–1986: no citations, so these years are not shown1988–1989: no citations, so these years are not shown1991–1997: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 1,990 citing papers, 20% of this breakdownGermany: 862 citing papers, 8.7% of this breakdownUnited Kingdom: 768 citing papers, 7.7% of this breakdownChina: 621 citing papers, 6.3% of this breakdownItaly: 501 citing papers, 5% of this breakdownFrance: 499 citing papers, 5% of this breakdownCanada: 382 citing papers, 3.8% of this breakdownNetherlands: 327 citing papers, 3.3% of this breakdownAustralia: 319 citing papers, 3.2% of this breakdownSpain: 310 citing papers, 3.1% of this breakdownJapan: 294 citing papers, 3% of this breakdownBelgium: 178 citing papers, 1.8% of this breakdown
0%20%Other 29.1%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology59.6%
  • Medicine25.7%
  • Neuroscience7.3%
  • Agricultural and Biological Sciences2.9%
  • Immunology and Microbiology1.8%
  • Environmental Science0.9%
  • Other1.8%

Topics

  • Genomics and Rare Diseases4.3%
  • Mitochondrial Function and Pathology4.3%
  • Muscle Physiology and Disorders3.5%
  • RNA modifications and cancer2.3%
  • Metabolism and Genetic Disorders2.3%
  • Genetics and Neurodevelopmental Disorders1.7%
  • Other81.6%

Coauthors

All papers

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  1. MutationTaster2: mutation prediction for the deep-sequencing age

    Authors: Jana Marie Schwarz, D.N. Cooper, Markus Schuelke, Dominik Seelow - Nature Methods 2014 cited by 3,790

  2. MutationTaster evaluates disease-causing potential of sequence alterations

    Authors: Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow - Nature Methods 2010 cited by 3,063

  3. MutationTaster2021

    Authors: Robin Steinhaus, Sebastian Proft, Markus Schuelke, David N. Cooper, Jana Marie Schwarz, Dominik Seelow - Nucleic Acids Research, Nucleic Acids Res. 2021 cited by 329

  4. Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

    Authors: Gizem Inak, Agnieszka Rybak‐Wolf, Paweł Lisowski, Tancredi Massimo Pentimalli, René Jüttner, Petar Glažar, Karan Uppal, Emanuela Bottani, Dario Brunetti, Christopher Secker, Annika Zink, David Meierhofer, Marie‐Thérèse Henke, Monishita Dey, Ummi Ciptasari, Barbara Mlody, Tobias Hahn, Maria Berruezo-Llacuna, Nikos Karaiskos, Michela Di Virgilio, Johannes A. Mayr, Saskia B. Wortmann, Josef Priller, Michael Gotthardt, Dean P. Jones, Ertan Mayatepek, Werner Stenzel, Sebastian Diecke, Ralf Kühn, Erich E. Wanker, Nikolaus Rajewsky, Markus Schuelke, Alessandro Prigione - Nature Communications 2021 cited by 137

  5. Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child

    Authors: Markus Schuelke, Kathryn R. Wagner, Leslie E. Stolz, Christoph Hübner, T Riebel, Wolfgang Kömen, Thomas Braun, James F. Tobin, Se‐Jin Lee - New England Journal of Medicine 2004 cited by 1,383

  6. An economic method for the fluorescent labeling of PCR fragments

    Authors: Markus Schuelke - Nature Biotechnology 2000 cited by 3,616

  7. Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders

    Authors: Carmen Lorenz, Pierre Lesimple, Raul Bukowiecki, Annika Zink, Gizem Inak, Barbara Mlody, Manvendra Singh, Marcus Semtner, Nancy Mah, Karine Auré, Megan Leong, Oleksandr Zabiegalov, Ekaterini Maria Lyras, Vanessa Pfiffer, Beatrix Fauler, Jenny Eichhorst, Burkhard Wiesner, Norbert Huebner, Josef Priller, Thorsten Mielke, David Meierhofer, Zsuzsanna Izsvák, Jochen C. Meier, Frédéric Bouillaud, James Adjaye, Markus Schuelke, Erich E. Wanker, Anne Lombès, Alessandro Prigione - Cell stem cell 2017 cited by 171

  8. Transparent Danionella translucida as a genetically tractable vertebrate brain model

    Authors: Lisanne Schulze, Jörg Henninger, Mykola Kadobianskyi, Thomas Chaigne, Ana I. Faustino, Nahid Hakiy, Shahad Albadri, Markus Schuelke, Leonard Maler, Filippo Del Bene, Benjamin Judkewitz - Nature Methods 2018 cited by 107

  9. Lack of myostatin results in excessive muscle growth but impaired force generation

    Authors: Helge Amthor, Raymond Macharia, Roberto Navarrete, Markus Schuelke, S. Brown, Anthony Otto, Thomas Voit, Francesco Muntoni, Gerta Vrbovà, Terence A. Partridge, Peter S. Zammit, L. Bünger, Ketan Patel - National Academy of Sciences, Proceedings of the National Academy of Sciences 2007 cited by 409

  10. Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

    Authors: Katja Grohmann, Markus Schuelke, Alexander Diers, Katrin Hoffmann, Barbara Lucke, Coleen Adams, Enrico Bertini, Hajnalka Leonhardt-Horti, Francesco Muntoni, Robert Ouvrier, Arne Pfeufer, Rainer Rossi, Lionel Van Maldergem, Jo M. Wilmshurst, Thomas F. Wienker, Michael Sendtner, Sabine Rudnik‐Schöneborn, Klaus Zerres, Christoph Hübner - Nature Genetics 2001 cited by 344

  11. Complement deposition at the neuromuscular junction in seronegative myasthenia gravis

    Authors: Sarah Hoffmann, Lutz Harms, Markus Schuelke, Jens‐Carsten Rückert, Hans‐Hilmar Goebel, Werner Stenzel, Andreas Meisel - Acta Neuropathologica 2020 cited by 49

  12. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

    Authors: Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch - Journal of Medical Genetics 2012 cited by 185

  13. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

    Authors: Ulf‐Peter Guenther, Lusy Handoko, Bernhard Laggerbauer, Sibylle Jablonka, Ashwin Chari, Mona Alzheimer, Jürgen Ohmer, Oliver Plöttner, Niels H. Gehring, Albert Sickmann, Katja von Au, Markus Schuelke, Utz Fischer - Human Molecular Genetics 2009 cited by 131

  14. Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

    Authors: Luís C. López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano - The American Journal of Human Genetics 2006 cited by 394

  15. Variants in CPA1 are strongly associated with early onset chronic pancreatitis

    Authors: Heiko Witt, Sebastian Beer, Jonas Rosendahl, Jian‐Min Chen, Giriraj R. Chandak, Atsushi Masamune, Melinda Bence, Richárd Szmola, Grzegorz Oracz, Milan Maçek, Eesh Bhatia, Sandra Steigenberger, Denise Lasher, Florence Bühler, Catherine Delaporte, Johanna Tebbing, Maren Ludwig, Claudia Pilsak, Karolin Saum, Peter Bugert, Emmanuelle Masson, Sumit Paliwal, Seema Bhaskar, Agnieszka Sobczyńska‐Tomaszewska, Daniel Bąk, Ivan Balaščák, Gourdas Choudhuri, D. Nageshwar Reddy, G.V. Rao, Varghese Thomas, Kiyoshi Kume, Eriko Nakano, Yoichi Kakuta, Tooru Shimosegawa, Łukasz Durko, András Szabó, Andrea Schnúr, Péter Hegyi, Zoltán Rakonczay, Roland H. Pfützer, Alexander Schneider, David A. Groneberg, Markus Braun, Hartmut Schmidt, Ulrike Witt, Helmut Frieß, Hana Algül, Olfert Landt, Markus Schuelke, Renate Krüger, Bertram Wiedenmann, Frank Schmidt, Klaus‐Peter Zimmer, Péter Kovács, Michael Stümvoll, Matthias Blüher, Thomas Müller, Andreas Janecke, Niels Teich, Robert Grützmann, Hans-Ulrich Schulz, Joachim Mössner, Volker Keim, Matthias Löhr, Claude Férec, Miklós Sahin‐Tóth - Nature Genetics 2013 cited by 302

  16. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

    Authors: Veronika Boczonadi, Juliane Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi, Michele Giunta, Tuomo Polvikoski, Daniel Birchall, Agota Princzinger, Yuval Cinnamon, Susanne Lützkendorf, Henriett Pikó, Mojgan Reza, Laura V. Flórez, Mauro Santibanez‐Koref, Helen Griffin, Markus Schuelke, Orly Elpeleg, Luba Kalaydjieva, Hanns Lochmüller, David J. Elliott, Patrick F. Chinnery, Simon Edvardson, Rita Horváth - Nature Communications 2014 cited by 158

  17. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

    Authors: Christopher A. Powell, Robert Kopajtich, Aaron R. D’Souza, Joanna Rorbach, Laura S. Kremer, Ralf A. Husain, Cristina Dallabona, Claudia Donnini, Charlotte L. Alston, Helen Griffin, Angela Pyle, Patrick F. Chinnery, Tim M. Strom, Thomas Meitinger, Richard J. Rodenburg, Gudrun Schottmann, Markus Schuelke, Nadine Romain, Ronald G. Haller, Ileana Ferrero, Tobias B. Haack, Robert W. Taylor, Holger Prokisch, Michal Minczuk - The American Journal of Human Genetics 2015 cited by 104

  18. Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis

    Authors: Felix Kleefeld, Akinori Uruha, Anne Schänzer, Anna Nishimura, Andreas Roos, Udo Schneider, Hans H. Goebel, Markus Schuelke, Katrin Hahn, Corinna Preuße, Werner Stenzel - Neurology 2022 cited by 44

  19. Defining the ATPome reveals cross-optimization of metabolic pathways

    Authors: Neal K. Bennett, Mai K. Nguyen, Maxwell A. Darch, Hiroki J. Nakaoka, Derek Cousineau, Johanna ten Hoeve, Thomas G. Graeber, Markus Schuelke, Emin Maltepe, Martin Kampmann, Bryce A. Mendelsohn, Jean L. Nakamura, Ken Nakamura - Nature Communications 2020 cited by 39

  20. Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

    Authors: Anna Rajab, Volker Straub, Liza McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke - PLoS Genetics 2010 cited by 238

  21. Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

    Authors: Luís C. López, Catarina M. Quinzii, Estela Área-Gómez, Ali Naini, Shamima Rahman, Markus Schuelke, Leonardo Salviati, Salvatore DiMauro, Michio Hirano - PLoS ONE 2010 cited by 123

  22. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Authors: Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, SYNAPS Study Group, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrottı, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden - Brain 2019 cited by 69

  23. HomozygosityMapper - an interactive approach to homozygosity mapping

    Authors: Dominik Seelow, Markus Schuelke, Friedhelm Hildebrandt, Peter Nürnberg - Nucleic Acids Research, Nucleic Acids Res. 2009 cited by 375

  24. Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria

    Authors: Oliver Kann, Christine Huchzermeyer, Richard J. Kovacs, S Wirtz, Markus Schuelke - Brain 2010 cited by 185