Desirée E.C. Smith

2.7k citations

62 papers · 1.5k indexed · h-index 25

Impact in

Rheumatology top 1%
- Folate and B Vitamins Research
Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders

Papers in

Clinical Biochemistry 18
- Metabolism and Genetic Disorders 18
Rheumatology 32
- Folate and B Vitamins Research 30

Co-authors: Yvo M. Smulders Henk J. Blom Rob Kok Cornelis Jakobs Tom Teerlink Coen D.A. Stehouwer C. Jakobs Gajja S. Salomons
Journals: Clinical Chemistry and Laboratory Medicine (CCLM) (6 papers)The American Journal of Human Genetics (4 papers)Journal of Inherited Metabolic Disease (3 papers)Human Mutation (3 papers)Human Molecular Genetics (2 papers)
Partner nations: Netherlands United Kingdom Germany

In The Last Decade

Desirée E.C. Smith

60 papers receiving 1.5k citations

Peers

Countries citing papers authored by Desirée E.C. Smith

Since Specialization

Citations

This map shows the geographic impact of Desirée E.C. Smith's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Desirée E.C. Smith with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Desirée E.C. Smith more than expected).

Fields of papers citing papers by Desirée E.C. Smith

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Desirée E.C. Smith. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Desirée E.C. Smith. The network helps show where Desirée E.C. Smith may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Desirée E.C. Smith, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Desirée E.C. Smith Line = papers co-authored together Desirée E.C. Smith links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype Molecular Genetics & Genomic Medicine ·F. Forti, 차명찬, Desirée E.C. Smith, Marisa I. Mendes, 安達晃一, E. M. de S. Santos, Carmen Cardeñoso García, Sergej Šesták, Zheng Tiehong, Anthony Antonellis	2025	0
2	Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells Journal of Biological Chemistry ·Богдан Герега, Ryan Shapiro, Sinji Fujii, Marisa I. Mendes, Desirée E.C. Smith, Qian Zhang, Taisuke Kanaji, Bernhard Kuhle, Xiang‐Lei Yang	2025	0
3	Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation Nucleic Acids Research ·雅也守山, Imre F. Schene, Allessandra Biondi, Jenny Elliott, Marisa I. Mendes, Desirée E.C. Smith, Gajja S. Salomons, Carles Tarragó Bussom, Judith Jans, Maigan Ratangee, Tim A. Hoek, Matthew Cupelli, Holger Rehmann, Edward E. S. Nieuwenhuis, Harmjan R. Vos, Sabine A. Fuchs	2024	1
4	Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC–MS/MS Nucleic Acids Research ·Marisa I. Mendes, Nicole I. Wolf, Joëlle Rudinger‐Thirion, Dominic Lenz, Magali Frugier, Patrick Verloo, Hanna Mandel, A. Zhokin, Rachel Kassel, Willemijn E. Corpeleijn, Cécile Floucat, Kawauchi Nobuyuki, Silvy J.M. van Dooren, Christian Staufner, Gajja S. Salomons, Desirée E.C. Smith	2024	1
5	5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings JIMD Reports ·Nowakowska, Desirée E.C. Smith, Hidde H. Huidekoper, Shih-Ping Kao, Mirjam M. C. Wamelink, Marie‐Claire Y. de Wit, Martina Wilke, George J. G. Ruijter, Jörgen Bierau, Henk J. Blom	2024	1
6	SLC26A1 is a major determinant of sulfate homeostasis in humans Journal of Clinical Investigation ·Anja Pfau, Karen I. López‐Cayuqueo, D Breslin, Matthias Wuttke, Daniel P. Towle, Jonas Julius Rudbaek, Desirée E.C. Smith, Jiddeke M. van de Kamp, Katharina Ziegeler, Kai‐Uwe Eckardt, Friedrich C. Luft, Peter S. Aronson, Anna Köttgen, Thomas J. Jentsch, Felix Knauf	2023	6
7	Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene Blood Advances ·Taco W. Kuijpers, Andrica C. H. de Vries, Ester M. van Leeuwen, Anton A. M. Ermens, 幸生加來, Desirée E.C. Smith, Mirjam M. C. Wamelink, Arjen R. Mensenkamp, Marcel Nelen, Hana Lango Allen, Steven T. Pals, Berna Beverloo, Hidde H. Huidekoper, Anja Wagner	2022	2
8	A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever Human Mutation ·Jean‐Marie Ravel, Natacha Dreumont, Ulrich Eza, Desirée E.C. Smith, Marisa I. Mendes, Arnaud Wiedemann, David Coelho, Emmanuelle Schmitt, Jean‐Baptiste Rivière, Frédéric Tran Mau‐Them, Julien Thévenon, Paul Kuentz, Marc Polivka, Sabine A. Fuchs, 雅也守山, Christel Thauvin‐Robinet, Jean‐Louis Guéant, Gajja S. Salomons, Laurence Faivre, François Feillet	2021	6
9	Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants Pediatric Pulmonology ·Dominic Lenz, Mirjam Stahl, Elias Seidl, Liu Guang-chuan, Heiko Brennenstuhl, Shao Zhuze, Е. В. Лялина, Thomas Longerich, Marisa I. Mendes, Holger Prokisch, Gajja S. Salomons, A. Iwanowa, Desirée E.C. Smith, Olaf Sommerburg, Matias Wagner, Jens H. Westhoff, Karl Reiter, Christian Staufner, Matthias Griese	2020	19
10	Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency Molecular Genetics and Metabolism Reports ·乔会卿, Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer	2020	4
11	Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia PLoS ONE ·Natanja Oosterom, Róbert de Jonge, Desirée E.C. Smith, Rob Pieters, Wim J. E. Tissing, Marta Fiocco, Bertrand D. van Zelst, Marry M. van den Heuvel‐Eibrink, Sandra G. Heil	2019	13
12	A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene Gene ·Saadet Mercimek‐Mahmutoglu, Ana Pop, Warsha A. Kanhai, Lukas Burgstaller, U. Holwerda, Desirée E.C. Smith, J.G. Loeber, Peter C. J. I. Schielen, Gajja S. Salomons	2015	23
13	Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid Clinical Chemistry and Laboratory Medicine (CCLM) ·Desirée E.C. Smith, Yvo M. Smulders, Henk J. Blom, Julius Popp, Frank Jessen, Alexander Semmler, C Bovet, Michael Linnebank	2012	23
14	Simultaneous determination of asymmetric and symmetric dimethylarginine, l-monomethylarginine, l-arginine, and l-homoarginine in biological samples using stable isotope dilution liquid chromatography tandem mass spectrometry Journal of Chromatography B ·Mariska Davids, Gong Gui-ming, Fredrik Palm, Desirée E.C. Smith, Yvo M. Smulders, P Scheffer, Henk J. Blom, Tom Teerlink	2012	37
15	Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function The American Journal of Human Genetics ·Magnus Bjursell, Henk J. Blom, J.M. Ingino, Martin Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desirée E.C. Smith, Eduard A. Struys, Ulrika von Döbeln, Claes M. Gustafsson, Joakim Lundeberg, Anna Wedell	2011	91
16	Homocysteine-Induced Apoptosis in Endothelial Cells Coincides With Nuclear NOX2 and Peri-nuclear NOX4 Activity Cell Biochemistry and Biophysics ·Jessica A. Sipkens, Nynke E. Hahn, National Highway Traffic Safety Administration, Christof Meischl, Saskia A.G.M. Cillessen, Desirée E.C. Smith, Lynda J.M. Juffermans, René J.P. Musters, Dirk Roos, Cornelis Jakobs, Henk J. Blom, Yvo M. Smulders, Paul A.J. Krijnen, Coen D.A. Stehouwer, Jan A. Rauwerda, Victor W.M. van Hinsbergh, Hans W.M. Niessen	2011	57
17	Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47phox Molecular and Cellular Biochemistry ·Jessica A. Sipkens, Paul A.J. Krijnen, Nynke E. Hahn, Melissa Wassink, Christof Meischl, Desirée E.C. Smith, René J.P. Musters, Coen D.A. Stehouwer, Jan A. Rauwerda, Victor W.M. van Hinsbergh, Hans W.M. Niessen	2011	11
18	[6S]5-methyltetrahydrofolate or folic acid supplementation and absorption and initial elimination of folate in young and middle-aged adults European Journal of Clinical Nutrition ·K. de Meer, Yvo M. Smulders, J. Dainty, Desirée E.C. Smith, Rob Kok, Coen D.A. Stehouwer, Paul Finglas, C. Jakobs	2005	23
19	5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolism Analytical Biochemistry ·Rob Kok, Desirée E.C. Smith, J. Dainty, Mengmeng Zhu, Paul Finglas, Yvo M. Smulders, C. Jakobs, K. de Meer	2004	64
20	Lung Oxidant Injury in a Model of Lung Storage and Extended Reperfusion American Journal of Respiratory and Critical Care Medicine ·Neil A. Christie, Desirée E.C. Smith, Richard Anthony Jackson, Arthur S. Slutsky, G. A. Patterson, A. Keith Tanswell	1994	18

About Desirée E.C. Smith

Desirée E.C. Smith is a scholar working on Clinical Biochemistry, Rheumatology, Biochemistry, Equine and Hematology, having authored 62 papers that have together received 1.5k indexed citations. Recurring topics across this work include Folate and B Vitamins Research (30 papers), Metabolism and Genetic Disorders (18 papers), RNA modifications and cancer (12 papers), RNA and protein synthesis mechanisms (7 papers), Esophageal and GI Pathology (6 papers), RNA Research and Splicing (5 papers), Amino Acid Enzymes and Metabolism (4 papers) and Biochemical and Molecular Research (4 papers). The work is most often cited by research in Rheumatology (603 citations), Clinical Biochemistry (255 citations), Biochemistry (129 citations), Pediatrics, Perinatology and Child Health (233 citations) and Physiology (43 citations). Desirée E.C. Smith has collaborated with scholars based in Netherlands, United Kingdom and Germany. Frequent co-authors include Yvo M. Smulders, Henk J. Blom, Rob Kok, Cornelis Jakobs, Tom Teerlink, Coen D.A. Stehouwer, C. Jakobs, Gajja S. Salomons, Alexander Semmler and Michael Linnebank. Their work appears in journals such as Clinical Chemistry and Laboratory Medicine (CCLM), The American Journal of Human Genetics, Journal of Inherited Metabolic Disease, Human Mutation and Human Molecular Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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