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Ron A. Wevers

1977–2025 年に発表

154
論文数
18,128
被引用数
90
h 指数
148
i10 指数

被引用数

Ron A. Wevers の年別被引用数1978 年: 被引用 1 件1979 年: 被引用 1 件1984 年: 被引用 1 件1986 年: 被引用 1 件1987 年: 被引用 4 件1989 年: 被引用 1 件1990 年: 被引用 1 件1993 年: 被引用 4 件1994 年: 被引用 20 件1995 年: 被引用 9 件1996 年: 被引用 4 件1997 年: 被引用 10 件1998 年: 被引用 27 件1999 年: 被引用 37 件2000 年: 被引用 68 件2001 年: 被引用 65 件2002 年: 被引用 54 件2003 年: 被引用 68 件2004 年: 被引用 71 件2005 年: 被引用 68 件2006 年: 被引用 92 件2007 年: 被引用 90 件2008 年: 被引用 93 件2009 年: 被引用 107 件2010 年: 被引用 112 件2011 年: 被引用 144 件2012 年: 被引用 122 件2013 年: 被引用 169 件2014 年: 被引用 154 件2015 年: 被引用 139 件2016 年: 被引用 142 件2017 年: 被引用 144 件2018 年: 被引用 188 件2019 年: 被引用 450 件2020 年: 被引用 549 件2021 年: 被引用 503 件2022 年: 被引用 351 件2023 年: 被引用 244 件2024 年: 被引用 428 件2025 年: 被引用 163 件2026 年: 被引用 2 件1980〜1983 年は被引用が無いため表示していません1985 年は被引用が無いため表示していません1988 年は被引用が無いため表示していません1991〜1992 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 1,549 件、この内訳の 20.9%オランダ: 引用元論文 580 件、この内訳の 7.8%イギリス: 引用元論文 563 件、この内訳の 7.6%ドイツ: 引用元論文 521 件、この内訳の 7%イタリア: 引用元論文 382 件、この内訳の 5.2%フランス: 引用元論文 353 件、この内訳の 4.8%中国: 引用元論文 310 件、この内訳の 4.2%カナダ: 引用元論文 294 件、この内訳の 4%スペイン: 引用元論文 211 件、この内訳の 2.9%オーストラリア: 引用元論文 195 件、この内訳の 2.6%日本: 引用元論文 189 件、この内訳の 2.6%スイス: 引用元論文 188 件、この内訳の 2.5%
0%20.9%その他 27.9%

機関

分野

  • Biochemistry, Genetics and Molecular Biology46.4%
  • Medicine38.8%
  • Neuroscience4.5%
  • Nursing2.8%
  • Immunology and Microbiology2.1%
  • Environmental Science1.6%
  • その他3.8%

トピック

  • Metabolism and Genetic Disorders4.5%
  • Lysosomal Storage Disorders Research4%
  • Mitochondrial Function and Pathology3.3%
  • Glycosylation and Glycoproteins Research2.5%
  • Metabolomics and Mass Spectrometry Studies2.3%
  • Genomics and Rare Diseases1.9%
  • その他81.5%

共著者

全論文

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  1. Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

    著者: Karin Tuschl, Peter T. Clayton, Sídney M. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo Teixeira Ribeiro, Orlando Graziani Póvoas Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea L. Rideout, Kevin Gordon, Ron A. Wevers, W.K. Chong, Philippa B. Mills - The American Journal of Human Genetics 2012 被引用: 378

  2. SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes

    著者: Janna A. van Diepen, Joris H. Robben, Guido Hooiveld, Claudia Carmone, Mohammad Alsady, Lily Boutens, Melissa Bekkenkamp‐Grovenstein, Anneke Hijmans, Udo F. H. Engelke, Ron A. Wevers, Mihai G. Netea, Cees J. Tack, Rinke Stienstra, Peter M.T. Deen - Diabetologia 2017 被引用: 192

  3. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

    著者: Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek, Maike Leferink, Tom Hofste, Baziel G.M. van Engelen, Ron A. Wevers, Todd M. Arthur, Nadia Bahi‐Buisson, Diana Ballhausen, Jolita Bekhof, Patrick Van Bogaert, Inês Carrilho, B. Chabrol, Mike Champion, James G. Coldwell, Peter T. Clayton, Elizabeth Donner, Athanasios Evangeliou, Friedrich Ebinger, K Farrell, Rob Forsyth, Christian G E L De Goede, S. Groß, Stephanie Grünewald, Hans Holthausen, Sandeep Jayawant, Katherine Lachlan, Vincent Laugel, Kathleen A. Leppig, Ming Lim, G.M.S. Mancini, Adela Della Marina, Loreto Martorell, Joe McMenamin, Marije Meuwissen, Helen Mundy, Nils‐Otto Nilsson, Axel Panzer, Bwee Tien Poll‐The, C. Rauscher, C. M. R. Rouselle, Inger Sandvig, T Scheffner, E. Sheridan, N. B. Simpson, Peter Sýkora, RJ Tomlinson, J Q Trounce, David Webb, Bernhard Weschke, Hans Scheffer, Michèl A.A.P. Willemsen - Brain 2010 被引用: 413

  4. Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

    著者: Karlien L. M. Coene, Leo A. J. Kluijtmans, E. van der Heeft, Udo F. H. Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J. T. Kwast, Maartje van de Vorst, Marleen C.D.G. Huigen, I. Keularts, Michiel F. Schreuder, Clara D.M. van Karnebeek, Saskia B. Wortmann, Maaike C. de Vries, Mirian C. H. Janssen, Christian Gilissen, Jasper Engel, Ron A. Wevers - Journal of Inherited Metabolic Disease 2018 被引用: 204

  5. The frequency of lysosomal storage diseases in The Netherlands

    著者: Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer, J.E.M. Groener, J.G.N. de Jong, Sonja van Weely, Klary E. Niezen‐Koning, O. P. van Diggelen - Human Genetics 1999 被引用: 725

  6. Exome Sequencing and the Management of Neurometabolic Disorders

    著者: Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, Gabriella Horváth, Ramona Salvarinova, Xin C. Ye, Lin-Hua Zhang, Amit P. Bhavsar, Jessica J. Y. Lee, Britt I. Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R. Baumgartner, Patricie Burda, Mary Connolly, Jessie M. Cameron, Michelle Demos, Tammie Dewan, Janis M. Dionne, A. Mark Evans, Jan M. Friedman, Ian Garber, M. E. Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, André Mattman, Margaret L. McKinnon, Aspasia Michoulas, Daniel L. Metzger, Oluseye A. Ogunbayo, Bojana Rakić, Jacob Rozmus, Peter C. Ruben, Bryan Sayson, Saikat Santra, Kirk R. Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti‐Furga, Stuart E. Turvey, Margot I. Van Allen, David S. Wishart, Jiang Wu, John K. Wu, Dimitrios Zafeiriou, Leo A. J. Kluijtmans, Ron A. Wevers, Patrice Eydoux, Anna Lehman, Hilary Vallance, Sylvia Stöckler‐Ipsiroglu, Graham Sinclair, Wyeth W. Wasserman, Clara D.M. van Karnebeek - New England Journal of Medicine 2016 被引用: 280

  7. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

    著者: Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero‐Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, Georg Christoph Korenke, Brian Hon‐Yin Chung, Christopher Chun Yu Mak, Ingrid Haußer, Uwe Kornak, Björn Fischer‐Zirnsak, Tim M. Strom, Thomas Meitinger, Yasemin Alanay, Gülen Eda Ütine, Peter K.C. Leung, Siavash Ghaderi‐Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B. Haack, Fransiska Malfait, Éva Morava, Bert Callewaert, Ron A. Wevers - The American Journal of Human Genetics 2017 被引用: 113

  8. Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia

    著者: Stefanie J.G. Veenhuis, Nienke J.H. van Os, Anjo J.W.M. Janssen, Marjo H.J.C. van Gerven, Karlien L. M. Coene, Udo F. H. Engelke, Ron A. Wevers, Gerjen H. Tinnevelt, Rob ter Heine, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Nel Roeleveld, Michèl A.A.P. Willemsen - Movement Disorders 2021 被引用: 48

  9. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

    著者: Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik, Lisenka E.L.M. Vissers, G. Herma Renkema, Janneke Schuurs-Hoeijmakers, Wim Kulik, Martin Lammens, Christin Christin, Leo A. J. Kluijtmans, Richard J. Rodenburg, Leo Nijtmans, Anne Grünewald, Christine Klein, Joachim M. Gerhold, Tamás Kozicz, Peter M. van Hasselt, Magdaléna Harakaľová, Wigard P. Kloosterman, Ivo Barić, Ewa Pronicka, Sema Kalkan Uçar, K Naess, Kapil Kumar Singhal, Zita Krūmiņa, Christian Gilissen, Hans van Bokhoven, Joris A. Veltman, Jan Smeıtınk, Dirk J. Lefeber, Johannes N. Spelbrink, Ron A. Wevers, Éva Morava, Arjan P.M. de Brouwer - Nature Genetics 2012 被引用: 207

  10. CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

    著者: Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Raković, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio‐Gozalbo, Elżbieta Chruściel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara D.M. van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Žordania, Joy Yaplito‐Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia L. Pras‐Raves, Rafał Płoski, Ewa Pronicka, Christine Klein, Michèl A.A.P. Willemsen, Arjan P.M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers - The American Journal of Human Genetics 2015 被引用: 135

  11. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

    著者: Bianca M. L. Stelten, Hidde H. Huidekoper, Bart P.C. van de Warrenburg, Eva H. Brilstra, Carla E. M. Hollak, Harm R. Haak, Leo A. J. Kluijtmans, Ron A. Wevers, Aad Verrips - Neurology 2018 被引用: 130

  12. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

    著者: Arjan Pol, G. Herma Renkema, Albert Tangerman, E. G. Winkel, Udo F. H. Engelke, Arjan P.M. de Brouwer, K. C. Kent Lloyd, Renee Araiza, Lambert van den Heuvel, Heymut Omran, Heike Olbrich, Marijn Oude Elberink, Christian Gilissen, Richard J. Rodenburg, Jörn Oliver Sass, Karl Otfried Schwab, Hendrik Schäfer, Hanka Venselaar, J. Silvia Sequeira, Huub J. M. Op den Camp, Ron A. Wevers - Nature Genetics 2017 被引用: 130

  13. The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP

    著者: Flóra Szeri, Stefan Lundkvist, Sylvia Donnelly, Udo F. H. Engelke, Kyu Y. Rhee, Charlene J. Williams, John P. Sundberg, Ron A. Wevers, Ryan E. Tomlinson, Robert S. Jansen, Koen van de Wetering - PLoS Genetics 2020 被引用: 84

  14. Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

    著者: Robert Steinfeld, Marcel Grapp, R. Kraetzner, Steffi Dreha‐Kulaczewski, Gunther Helms, Peter Dechent, Ron A. Wevers, Salvatore Grosso, Jutta Gärtner - The American Journal of Human Genetics 2009 被引用: 281

  15. Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

    著者: Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg, Salma Ben‐Salem, Susanne T. de Bot, Bonnie Nijhof, Ilse I.G.M. van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte‐Höller, Sascha Vermeer, Amanda Smith, Peter Humphreys, Jeremy Schwartzentruber, Bassam R. Ali, Saeed Al‐Yahyaee, Said Tariq, Thachillath Pramathan, Riad Bayoumi, H.P.H. Kremer, Bart P. van de Warrenburg, Willem M.R. van den Akker, Christian Gilissen, Joris A. Veltman, Irene M. Janssen, Anneke T. Vulto-van Silfhout, Saskia van der Velde-Visser, Dirk Lefeber, Adinda Diekstra, Corrie E. Erasmus, Michèl A.A.P. Willemsen, Lisenka E.L.M. Vissers, Martin Lammens, Hans van Bokhoven, Han G. Brunner, Ron A. Wevers, Annette Schenck, Lihadh Al‐Gazali, Bert B.A. de Vries, Arjan P.M. de Brouwer - The American Journal of Human Genetics 2012 被引用: 182

  16. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

    著者: Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, Karlien L. M. Coene, Saskia N. van der Crabben, René G. Feichtinger, Alejandro Garanto, Alexander Hoischen, Mirjam Langeveld, Dirk J. Lefeber, Johannes A. Mayr, Charlotte W. Ockeloen, Holger Prokisch, Richard J. Rodenburg, Hans R. Waterham, Ron A. Wevers, Bart P.C. van de Warrenburg, Michèl A.A.P. Willemsen, Nicole I. Wolf, Lisenka E.L.M. Vissers, Clara van Karnebeek - Journal of Inherited Metabolic Disease 2022 被引用: 73

  17. Performance of near-infrared spectroscopy in measuring local O2 consumption and blood flow in skeletal muscle

    著者: Mireille C. P. Van Beekvelt, Willy N. J. M. Colier, Ron A. Wevers, Baziel G.M. van Engelen - Journal of Applied Physiology 2001 被引用: 523

  18. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

    著者: Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg, J.F. de Rijk-van Andel, Alec Aeby, Nenad Blau, Alessandro P. Burlina, Maria Alice Donati, B. Geurtz, Padraic J. Grattan‐Smith, Maximilian Haeussler, G. F. Hoffmann, Hae Hyuk Jung, J. B. de Klerk, Marjo S. van der Knaap, Fernando Kok, Vincenzo Leuzzi, Pascale de Lonlay, André Mégarbané, H. Monaghan, W.O. Renier, Pierre Rondot, Monique M. Ryan, Jürgen Seeger, Jan Smeıtınk, Gerry C. H. Steenbergen‐Spanjers, Evangeline Wassmer, Bernhard Weschke, Frits A. Wijburg, Bridget Wilcken, Dimitrios Zafeiriou, Ron A. Wevers - Brain 2010 被引用: 234

  19. NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    著者: Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Sara Balzano, Béryl Royer‐Bertrand, Angel Ashikov, Livia Garavelli, Isabella Mammi, Licia Turolla, Catherine Breen, Dian Donnai, Valérie Cormier‐Daire, Delphine Héron, Gen Nishimura, Shinichi Uchikawa, Belinda Campos‐Xavier, Antonio Rossi, Thierry Hennet, Koroboshka Brand‐Arzamendi, Jacob Rozmus, Keith Harshman, Brian J. Stevenson, Enrico Girardi, Giulio Superti‐Furga, Tammie Dewan, Alissa Collingridge, Jessie Halparin, Colin J.D. Ross, Margot I. Van Allen, Andrea Rossi, Udo F. H. Engelke, Leo A. J. Kluijtmans, E. van der Heeft, G. Herma Renkema, Arjan de Brouwer, Karin Huijben, Fokje Zijlstra, Torben Heise, Thomas J. Boltje, Wyeth W. Wasserman, Carlo Rivolta, Sheila Unger, Dirk J. Lefeber, Ron A. Wevers, Andrea Superti‐Furga - Nature Genetics 2016 被引用: 166

  20. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

    著者: Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans J. P. M. Koenen, Darius J. Adams, Julia Vodopiutz, Susanne Greber‐Platzer, Thomas Müller, Gregor Dueckers, Éva Morava, Jolanta Sykut‐Cegielska, Gerard J.M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber - Nature Communications 2016 被引用: 150

  21. Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice

    著者: Wilhelmina G. Leen, Michèl A.A.P. Willemsen, Ron A. Wevers, Marcel M. Verbeek - PLoS ONE 2012 被引用: 136

  22. CADmutations and uridine-responsive epileptic encephalopathy

    著者: Johannes Koch, Johannes A. Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Réka Kovács-Nagy, Karlien L. M. Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A. Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M. Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B. Wortmann, Tobias B. Haack - Brain 2016 被引用: 124

  23. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

    著者: Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand‐Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee, Britt I. Drögemöller, Janet Koster, Justine Rousseau, Philippe M. Campeau, Youdong Wang, Feng Cao, Meng Li, Jos P.N. Ruiter, Jolita Čiapaitė, Leo A. J. Kluijtmans, Michèl A.A.P. Willemsen, Judith Jans, Colin J.D. Ross, Liesbeth T. Wintjes, Richard J. Rodenburg, Marleen C.D.G. Huigen, Zhengping Jia, Hans R. Waterham, Wyeth W. Wasserman, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Maha S. Zaki, Ron A. Wevers - The American Journal of Human Genetics 2019 被引用: 86

  24. The role of the clinician in the multi‐omics era: are you ready?

    著者: Clara D.M. van Karnebeek, Saskia B. Wortmann, Maja Tarailo‐Graovac, Mirjam Langeveld, Carlos R. Ferreira, Jiddeke M. van de Kamp, Carla E. M. Hollak, Wyeth W. Wasserman, Hans R. Waterham, Ron A. Wevers, Tobias B. Haack, Ronald J. A. Wanders, Kym M. Boycott - Journal of Inherited Metabolic Disease 2018 被引用: 81