Ron A. Wevers
Active 1977–2025
- 154
- Papers
- 18,128
- Citations
- 90
- h-index
- 148
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology46.4%
- Medicine38.8%
- Neuroscience4.5%
- Nursing2.8%
- Immunology and Microbiology2.1%
- Environmental Science1.6%
- Other3.8%
Topics
- 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%
- Other81.5%
Coauthors
- Udo F. H. Engelke32
- Éva Morava28
- Dirk J. Lefeber21
- Leo A. J. Kluijtmans19
- Michèl A.A.P. Willemsen16
- Saskia B. Wortmann16
- Karlien L. M. Coene15
- Richard J. Rodenburg13
- Baziel G.M. van Engelen12
- Jan Smeıtınk11
- Aad Verrips10
- F.J.M. Gabreëls9
- Karin Huijben9
- Christian Gilissen8
- Clara D.M. van Karnebeek8
- Giel Berden8
- Jonathan Martens8
- Jos Oomens8
- Marcel M. Verbeek8
- Alexander Hoischen7
- Arno van Rooij7
- Erik‐Jan Kamsteeg7
- Gerry Steenbergen7
- Hans van Bokhoven7
All papers
- Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man
Authors: 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 cited by 378
- SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes
Authors: 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 cited by 192
- Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Authors: 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 cited by 413
- Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Authors: 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 cited by 204
- The frequency of lysosomal storage diseases in The Netherlands
Authors: 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 cited by 725
- Exome Sequencing and the Management of Neurometabolic Disorders
Authors: 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 cited by 280
- Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Authors: 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 cited by 113
- Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia
Authors: 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 cited by 48
- Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Authors: 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 cited by 207
- CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
Authors: 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 cited by 135
- Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Authors: 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 cited by 130
- Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
Authors: 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 cited by 130
- The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP
Authors: 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 cited by 84
- Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism
Authors: 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 cited by 281
- Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Authors: 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 cited by 182
- How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Authors: 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 cited by 73
- Performance of near-infrared spectroscopy in measuring local O2 consumption and blood flow in skeletal muscle
Authors: Mireille C. P. Van Beekvelt, Willy N. J. M. Colier, Ron A. Wevers, Baziel G.M. van Engelen - Journal of Applied Physiology 2001 cited by 523
- Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
Authors: 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 cited by 234
- NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Authors: 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 cited by 166
- ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Authors: 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 cited by 150
- Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice
Authors: Wilhelmina G. Leen, Michèl A.A.P. Willemsen, Ron A. Wevers, Marcel M. Verbeek - PLoS ONE 2012 cited by 136
- CADmutations and uridine-responsive epileptic encephalopathy
Authors: 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 cited by 124
- Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Authors: 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 cited by 86
- The role of the clinician in the multi‐omics era: are you ready?
Authors: 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 cited by 81
