Peter De Jonghe

Active 1991–2024

155
Papers
29,673
Citations
102
h-index
155
i10-index

Citations

Citations per year for Peter De Jonghe1951: 1 citations1990: 1 citations1992: 17 citations1993: 28 citations1994: 20 citations1995: 14 citations1996: 37 citations1997: 18 citations1998: 37 citations1999: 54 citations2000: 50 citations2001: 37 citations2002: 60 citations2003: 76 citations2004: 101 citations2005: 157 citations2006: 249 citations2007: 180 citations2008: 215 citations2009: 240 citations2010: 284 citations2011: 314 citations2012: 350 citations2013: 358 citations2014: 352 citations2015: 425 citations2016: 342 citations2017: 415 citations2018: 259 citations2019: 1,131 citations2020: 1,121 citations2021: 991 citations2022: 743 citations2023: 476 citations2024: 705 citations2025: 263 citations2026: 7 citations1952–1989: no citations, so these years are not shown1991: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 3,112 citing papers, 23.1% of this breakdownUnited Kingdom: 1,175 citing papers, 8.7% of this breakdownGermany: 944 citing papers, 7% of this breakdownItaly: 906 citing papers, 6.7% of this breakdownFrance: 713 citing papers, 5.3% of this breakdownChina: 618 citing papers, 4.6% of this breakdownCanada: 575 citing papers, 4.2% of this breakdownAustralia: 565 citing papers, 4.2% of this breakdownNetherlands: 483 citing papers, 3.6% of this breakdownBelgium: 459 citing papers, 3.4% of this breakdownJapan: 333 citing papers, 2.5% of this breakdownSpain: 316 citing papers, 2.3% of this breakdown
0%23.1%Other 24.4%

Fields

  • Biochemistry, Genetics and Molecular Biology45.2%
  • Medicine32.8%
  • Neuroscience20%
  • Nursing0.6%
  • Immunology and Microbiology0.4%
  • Agricultural and Biological Sciences0.3%
  • Other0.7%

Topics

  • Epilepsy research and treatment5.4%
  • Mitochondrial Function and Pathology4.8%
  • Hereditary Neurological Disorders4.5%
  • Genomics and Rare Diseases4.2%
  • Amyotrophic Lateral Sclerosis Research4.1%
  • Neuroscience and Neuropharmacology Research4.1%
  • Other72.9%

Coauthors

All papers

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  1. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily C. Wong‐Kisiel, Friedrich Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt‐Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, C. Finetti, Reinhard Brückner, Joachim Pietz, G. Golla, Dinesh Jillella, Karen Markussen Linnet, Perrine Charles, Ute Moog, Eve Õiglane‐Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, Georg-Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter De Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh‐Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller - Brain 2017 cited by 575

  2. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Chantal Depondt, Orrin Devinsky, Dennis Dlugos, Colin P. Doherty, Christian E. Elger, Johan G. Eriksson, Thomas N. Ferraro, Martha Feucht, Ben Francis, André Franke, Jacqueline A. French, Saskia Freytag, Verena Gaus, Eric B. Geller, Christian Gieger, Tracy A. Glauser, Simon Glynn, David B. Goldstein, Hongsheng Gui, Youling Guo, Kevin F. Haas, Håkon Håkonarson, Kerstin Hallmann, Sheryl R. Haut, Erin L. Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Jennifer Jamnadas-Khoda, Michael R. Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūtė, Dorothée Kasteleijn‐Nolst Trenité, Heidi E. Kirsch, Robert C. Knowlton, Bobby P.C. Koeleman, Roland Krause, Martin Krenn, Wolfram S. Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, YL Lau, Anna‐Elina Lehesjoki, Holger Lerche, Costin Leu, Wolfgang Lieb, Dick Lindhout, Warren Lo, Íscia Lopes‐Cendes, Daniel H. Lowenstein, Alberto Malovini, Anthony G Marson, Thomas Mayer, Mark McCormack, James L. Mills, Nasir Mirza, Martina Moerzinger, Rikke S. Møller, Anne M. Molloy, Hiltrud Muhle, Mark R. Newton, Ping-Wing Ng, Markus M. Nöthen, Peter Nürnberg, Terence J. O’Brien, Karen Oliver and 58 more - Nature Communications 2018 cited by 513

  3. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

    Authors: , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2004 cited by 1,562

  4. De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

    Authors: , , , , , - The American Journal of Human Genetics 2001 cited by 1,275

  5. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe and 141 more - The American Journal of Human Genetics 2019 cited by 303

  6. DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

    Authors: , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2004 cited by 812

  7. STXBP1 encephalopathy

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen - Neurology 2016 cited by 323

  8. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Hiltrud Muhle, Hande Çağlayan, Katalin Štěrbová, Dana Craiu, Dorota Hoffman, Anna‐Elina Lehesjoki, Kaja Kristine Selmer, Christel Depienne, Johannes R. Lemke, Carla Marini, Renzo Guerrini, Bernd A. Neubauer, Tiina Talvik, Eric Leguern, Peter De Jonghe, Sarah Weckhuysen - The American Journal of Human Genetics 2018 cited by 122

  9. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amron, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio and 31 more - The American Journal of Human Genetics 2014 cited by 454

  10. A de novo gain-of-function mutation in SCN11A causes loss of pain perception

    Authors: , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2013 cited by 304

  11. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

    Authors: , , , , , , , , , , , , , , , , - Nature Genetics 2009 cited by 256

  12. De novo variants in neurodevelopmental disorders with epilepsy

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2018 cited by 318

  13. Phenotypic spectrum of GABRA1

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , José M. Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R. Lemke, Guido Rubboli, Snezana Maljevic - Neurology 2016 cited by 141

  14. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Patrick Cras, Jean‐Jacques Martin, Peter P. De Deyn, Marc Cruts, Christine Van Broeckhoven - The Lancet Neurology 2011 cited by 628

  15. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

    Authors: , , , , , , , , , , , , , , , , , , , , , , - Annals of Neurology 2011 cited by 514

  16. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2006 cited by 376

  17. The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

    Authors: , , , , , , , , , , , , , , , , , , , , , - Molecular Psychiatry 2015 cited by 247

  18. Delineating the GRIN1 phenotypic spectrum

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Deepa Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P.C. Koeleman, Joaquim Sá, Carla Mendonça, Carolien G. F. de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meırleır, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L. Michaud, Bodo Laube, Steffen Syrbe - Neurology 2016 cited by 207

  19. The phenotypic spectrum of SCN8A encephalopathy

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne Weber - Neurology 2015 cited by 285

  20. Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , - JCI Insight 2021 cited by 73

  21. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Petia Dimova, Rosa Guerrero, José M. Serratosa, Tarja Linnankivi, Anna‐Elina Lehesjoki, Susanne Ruf, Markus Wolff, Sarah E. Buerki, Gabriele Wohlrab, Judith Kroell, Alexandre Datta, Barbara Fiedler, Gerhard Kurlemann, Gerhard Kluger, Andreas Hahn, D Edda Haberlandt, Christina Kutzer, Jürgen Sperner, Felicitas Becker, Yvonne Weber, Martha Feucht, Hannelore Steinböck, Birgit Neophythou, Gabriel M. Ronen, U Gruber‐Sedlmayr, Julia Geldner, Robert J Harvey, Per Hoffmann, Stefan Herms, Janine Altmüller, Mohammad R. Toliat, Hölger Thiele, Peter Nürnberg, Christian Wilhelm, Ulrich Stephani, Ingo Helbig, Holger Lerche, Fritz Zimprich, Bernd A. Neubauer, Saskia Biskup, Sarah von Spiczak - Nature Genetics 2013 cited by 440

  22. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

    Authors: , , , , , , , , , , , , , , , , , , , - Nature Genetics 2004 cited by 380

  23. The genetics of Dravet syndrome

    Authors: , , , , , , - Epilepsia 2011 cited by 271

  24. GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy

    Authors: , , , , , , , , , , , , , , , , , , , - Annals of Neurology 2013 cited by 211