Peter De Jonghe

1991–2024 年に発表

155
論文数
29,673
被引用数
102
h 指数
155
i10 指数

被引用数

Peter De Jonghe の年別被引用数1951 年: 被引用 1 件1990 年: 被引用 1 件1992 年: 被引用 17 件1993 年: 被引用 28 件1994 年: 被引用 20 件1995 年: 被引用 14 件1996 年: 被引用 37 件1997 年: 被引用 18 件1998 年: 被引用 37 件1999 年: 被引用 54 件2000 年: 被引用 50 件2001 年: 被引用 37 件2002 年: 被引用 60 件2003 年: 被引用 76 件2004 年: 被引用 101 件2005 年: 被引用 157 件2006 年: 被引用 249 件2007 年: 被引用 180 件2008 年: 被引用 215 件2009 年: 被引用 240 件2010 年: 被引用 284 件2011 年: 被引用 314 件2012 年: 被引用 350 件2013 年: 被引用 358 件2014 年: 被引用 352 件2015 年: 被引用 425 件2016 年: 被引用 342 件2017 年: 被引用 415 件2018 年: 被引用 259 件2019 年: 被引用 1,131 件2020 年: 被引用 1,121 件2021 年: 被引用 991 件2022 年: 被引用 743 件2023 年: 被引用 476 件2024 年: 被引用 705 件2025 年: 被引用 263 件2026 年: 被引用 7 件1952〜1989 年は被引用が無いため表示していません1991 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 3,112 件、この内訳の 23.1%イギリス: 引用元論文 1,175 件、この内訳の 8.7%ドイツ: 引用元論文 944 件、この内訳の 7%イタリア: 引用元論文 906 件、この内訳の 6.7%フランス: 引用元論文 713 件、この内訳の 5.3%中国: 引用元論文 618 件、この内訳の 4.6%カナダ: 引用元論文 575 件、この内訳の 4.2%オーストラリア: 引用元論文 565 件、この内訳の 4.2%オランダ: 引用元論文 483 件、この内訳の 3.6%ベルギー: 引用元論文 459 件、この内訳の 3.4%日本: 引用元論文 333 件、この内訳の 2.5%スペイン: 引用元論文 316 件、この内訳の 2.3%
0%23.1%その他 24.4%

分野

  • Biochemistry, Genetics and Molecular Biology45.2%
  • Medicine32.8%
  • Neuroscience20%
  • Nursing0.6%
  • Immunology and Microbiology0.4%
  • Agricultural and Biological Sciences0.3%
  • その他0.7%

トピック

  • 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%
  • その他72.9%

共著者

全論文

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 575

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 ほか 58 名 - Nature Communications 2018 被引用: 513

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

    著者: , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2004 被引用: 1,562

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

    著者: , , , , , - The American Journal of Human Genetics 2001 被引用: 1,275

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 ほか 141 名 - The American Journal of Human Genetics 2019 被引用: 303

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

    著者: , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2004 被引用: 812

  7. STXBP1 encephalopathy

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 323

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 122

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 ほか 31 名 - The American Journal of Human Genetics 2014 被引用: 454

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

    著者: , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2013 被引用: 304

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

    著者: , , , , , , , , , , , , , , , , - Nature Genetics 2009 被引用: 256

  12. De novo variants in neurodevelopmental disorders with epilepsy

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2018 被引用: 318

  13. Phenotypic spectrum of GABRA1

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 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

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

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

    著者: , , , , , , , , , , , , , , , , , , , , , , - Annals of Neurology 2011 被引用: 514

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2006 被引用: 376

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

    著者: , , , , , , , , , , , , , , , , , , , , , - Molecular Psychiatry 2015 被引用: 247

  18. Delineating the GRIN1 phenotypic spectrum

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 207

  19. The phenotypic spectrum of SCN8A encephalopathy

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 285

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , - JCI Insight 2021 被引用: 73

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 440

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

    著者: , , , , , , , , , , , , , , , , , , , - Nature Genetics 2004 被引用: 380

  23. The genetics of Dravet syndrome

    著者: , , , , , , - Epilepsia 2011 被引用: 271

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

    著者: , , , , , , , , , , , , , , , , , , , - Annals of Neurology 2013 被引用: 211