Saskia B. Wortmann

7.6k total citations
122 papers, 2.7k citations indexed

About

Saskia B. Wortmann is a scholar working on Molecular Biology, Clinical Biochemistry and Genetics. According to data from OpenAlex, Saskia B. Wortmann has authored 122 papers receiving a total of 2.7k indexed citations (citations by other indexed papers that have themselves been cited), including 78 papers in Molecular Biology, 56 papers in Clinical Biochemistry and 38 papers in Genetics. Recurrent topics in Saskia B. Wortmann's work include Metabolism and Genetic Disorders (56 papers), Mitochondrial Function and Pathology (50 papers) and Genomics and Rare Diseases (23 papers). Saskia B. Wortmann is often cited by papers focused on Metabolism and Genetic Disorders (56 papers), Mitochondrial Function and Pathology (50 papers) and Genomics and Rare Diseases (23 papers). Saskia B. Wortmann collaborates with scholars based in Netherlands, Austria and Germany. Saskia B. Wortmann's co-authors include Richard J. Rodenburg, Jan Smeıtınk, Éva Morava, Ron A. Wevers, Johannes A. Mayr, Holger Prokisch, Leo A. J. Kluijtmans, Udo F. H. Engelke, David A. Koolen and Wolfgang Sperl and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Journal of Biological Chemistry and Nature Communications.

In The Last Decade

Saskia B. Wortmann

115 papers receiving 2.7k citations

Author Peers

Peers are selected by citation overlap in the author's most active subfields. citations · hero ref

Author Last Decade Papers Cites
Saskia B. Wortmann 1.9k 1.0k 539 302 233 122 2.7k
Nanda M. Verhoeven‐Duif 1.2k 0.7× 731 0.7× 349 0.6× 354 1.2× 259 1.1× 83 2.3k
Manuel Schiff 1.3k 0.7× 870 0.8× 255 0.5× 380 1.3× 398 1.7× 115 2.3k
Paz Briones 2.1k 1.1× 896 0.9× 245 0.5× 420 1.4× 215 0.9× 70 2.7k
Peter M. van Hasselt 1.2k 0.6× 562 0.5× 467 0.9× 662 2.2× 232 1.0× 114 2.5k
Silvia Tortorelli 1.0k 0.6× 1.1k 1.1× 310 0.6× 621 2.1× 364 1.6× 70 2.3k
J. Jaeken 2.0k 1.1× 606 0.6× 467 0.9× 649 2.1× 262 1.1× 90 2.8k
Thomas Opladen 782 0.4× 860 0.8× 478 0.9× 191 0.6× 378 1.6× 84 1.9k
Katrina M. Dipple 1.1k 0.6× 265 0.3× 466 0.9× 272 0.9× 107 0.5× 66 1.9k
Barbara Garavaglia 2.0k 1.1× 1.4k 1.4× 298 0.6× 501 1.7× 373 1.6× 152 4.0k
Paldeep S. Atwal 821 0.4× 366 0.4× 457 0.8× 171 0.6× 122 0.5× 88 1.6k

Countries citing papers authored by Saskia B. Wortmann

Since Specialization
Citations

This map shows the geographic impact of Saskia B. Wortmann'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 Saskia B. Wortmann with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Saskia B. Wortmann more than expected).

Fields of papers citing papers by Saskia B. Wortmann

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Saskia B. Wortmann. 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 Saskia B. Wortmann. The network helps show where Saskia B. Wortmann may publish in the future.

Co-authorship network of co-authors of Saskia B. Wortmann

This figure shows the co-authorship network connecting the top 25 collaborators of Saskia B. Wortmann. A scholar is included among the top collaborators of Saskia B. Wortmann based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Saskia B. Wortmann. Saskia B. Wortmann is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Schumann, Anke, Sven F. Garbade, Skadi Beblo, et al.. (2025). Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges. Molecular Genetics and Metabolism. 144(3). 109054–109054.
2.
Wortmann, Saskia B., et al.. (2024). Novel bi-allelic CAD variants cause epileptic encephalopathy responsive to triacetyluridine supplementation. Molecular Genetics and Metabolism. 141(4). 108204–108204.
3.
Zimmermann, Franz, et al.. (2024). Vaccine safety in children with genetically confirmed mitochondrial disease. Immunology Letters. 271. 106946–106946. 1 indexed citations
4.
Feichtinger, René G., et al.. (2024). Mitochondrial disorder diagnosis and management– what the pediatric neurologist wants to know. European Journal of Paediatric Neurology. 54. 75–88.
5.
Gramer, Gwendolyn, Saskia B. Wortmann, Junmin Fang‐Hoffmann, et al.. (2024). New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center. International Journal of Neonatal Screening. 10(1). 17–17. 2 indexed citations
6.
Zeyda, Maximilian, Anna Baghdasaryan, Matthias R. Baumgartner, et al.. (2024). The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International Journal of Neonatal Screening. 10(2). 40–40.
7.
Mayr, Johannes A., Nadja Fratzl‐Zelman, Stéphane Blouin, et al.. (2023). Investigating the role of ASCC1 in the causation of bone fragility. Frontiers in Endocrinology. 14. 1137573–1137573. 4 indexed citations
8.
Veiga‐da‐Cunha, Maria, Saskia B. Wortmann, Sarah C. Grünert, & Emile Van Schaftingen. (2023). Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors. Diagnostics. 13(10). 1803–1803. 19 indexed citations
9.
Jans, Judith, Vassiliki Konstantopoulou, René G. Feichtinger, et al.. (2023). PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening. Metabolites. 13(11). 1141–1141. 1 indexed citations
10.
11.
Ng, Bobby G., Antonio Rubio‐del‐Campo, Matthew P. Wilson, et al.. (2023). Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. Journal of Inherited Metabolic Disease. 46(6). 1170–1185. 6 indexed citations
12.
Marina, Adela Della, Marina Flotats‐Bastardas, Felix Distelmaier, et al.. (2022). Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially. European Journal of Paediatric Neurology. 41. 27–35. 6 indexed citations
13.
14.
Feichtinger, René G., Andreas Koller, Dieter Kotzot, et al.. (2021). A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder. EMBO Molecular Medicine. 13(9). e14332–e14332. 21 indexed citations
15.
Ven, Amelie T. van der, Jessika Johannsen, Fanny Kortüm, et al.. (2021). Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clinical Genetics. 100(6). 766–770. 8 indexed citations
16.
Herle, Marion, Michaela Brunner‐Krainz, Daniela Karall, et al.. (2021). A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria. Orphanet Journal of Rare Diseases. 16(1). 367–367. 4 indexed citations
17.
Wortmann, Saskia B., Brigitte Meunier, Lamia Mestek, et al.. (2020). Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. The American Journal of Human Genetics. 106(2). 256–263. 18 indexed citations
18.
Wagner, Matias, Sarah L. Stenton, Tim M. Strom, et al.. (2020). Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine. 54. 102730–102730. 39 indexed citations
19.
Wortmann, Saskia B., Johan L.K. Van Hove, Terry G. J. Derks, et al.. (2020). Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 136(9). 1033–1043. 93 indexed citations
20.
Wortmann, Saskia B. & Johannes A. Mayr. (2019). Choline‐related‐inherited metabolic diseases—A mini review. Journal of Inherited Metabolic Disease. 42(2). 237–242. 45 indexed citations

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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