Clara van Karnebeek

8.0k total citations
118 papers, 3.5k citations indexed

About

Clara van Karnebeek is a scholar working on Genetics, Molecular Biology and Clinical Biochemistry. According to data from OpenAlex, Clara van Karnebeek has authored 118 papers receiving a total of 3.5k indexed citations (citations by other indexed papers that have themselves been cited), including 62 papers in Genetics, 60 papers in Molecular Biology and 39 papers in Clinical Biochemistry. Recurrent topics in Clara van Karnebeek's work include Genomics and Rare Diseases (44 papers), Metabolism and Genetic Disorders (39 papers) and Genetics and Neurodevelopmental Disorders (24 papers). Clara van Karnebeek is often cited by papers focused on Genomics and Rare Diseases (44 papers), Metabolism and Genetic Disorders (39 papers) and Genetics and Neurodevelopmental Disorders (24 papers). Clara van Karnebeek collaborates with scholars based in Canada, Netherlands and United States. Clara van Karnebeek's co-authors include Sylvia Stöckler, Raoul C. M. Hennekam, Carlos R. Ferreira, Wyeth W. Wasserman, Sylvia Stöckler‐Ipsiroglu, Maja Tarailo‐Graovac, Nenad Blau, Sravan Jaggumantri, Jerry Vockley and Johan L.K. Van Hove and has published in prestigious journals such as Journal of Biological Chemistry, SHILAP Revista de lepidopterología and Analytical Chemistry.

In The Last Decade

Clara van Karnebeek

115 papers receiving 3.4k citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Clara van Karnebeek Canada	34	1.5k	1.4k	1.2k	528	339	118	3.5k
Michael T. Geraghty United States	36	1.9k 1.2×	896 0.6×	913 0.7×	402 0.8×	195 0.6×	121	3.6k
Andrea Gropman United States	38	2.8k 1.8×	1.5k 1.1×	1.7k 1.4×	769 1.5×	299 0.9×	200	5.1k
Michèl A.A.P. Willemsen Netherlands	41	2.8k 1.9×	1.3k 0.9×	1.2k 0.9×	583 1.1×	441 1.3×	199	5.7k
Marni J. Falk United States	41	3.3k 2.2×	728 0.5×	1.4k 1.2×	223 0.4×	317 0.9×	135	4.6k
V. Reid Sutton United States	41	2.5k 1.7×	2.2k 1.6×	916 0.7×	770 1.5×	112 0.3×	146	4.7k
Barbara Plecko Austria	37	2.3k 1.5×	571 0.4×	1.9k 1.5×	747 1.4×	651 1.9×	138	4.6k
Marie‐Cécile Nassogne Belgium	32	974 0.6×	388 0.3×	588 0.5×	793 1.5×	169 0.5×	103	3.1k
Linda De Meırleır Belgium	33	2.2k 1.5×	337 0.2×	1.4k 1.1×	254 0.5×	482 1.4×	121	3.7k
Ni‐Chung Lee Taiwan	33	1.7k 1.1×	798 0.6×	1.1k 0.9×	373 0.7×	192 0.6×	218	4.3k
Paul M. Fernhoff United States	32	1.9k 1.3×	978 0.7×	658 0.5×	932 1.8×	121 0.4×	66	4.0k

Countries citing papers authored by Clara van Karnebeek

Since Specialization

Citations

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

Fields of papers citing papers by Clara van Karnebeek

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Clara van Karnebeek. 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 Clara van Karnebeek. The network helps show where Clara van Karnebeek may publish in the future.

Co-authorship network of co-authors of Clara van Karnebeek

This figure shows the co-authorship network connecting the top 25 collaborators of Clara van Karnebeek. A scholar is included among the top collaborators of Clara van Karnebeek 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 Clara van Karnebeek. Clara van Karnebeek is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Houthuijs, Kas J., Valerie Gailus-Durner, Stefanie Leuchtenberger, et al.. (2025). Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy. Analytical Chemistry. 97(25). 13160–13167. 1 indexed citations

Brands, Marion M., Ilse J.M. Nijhuis, G.H. Hofsteenge, et al.. (2024). Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen. Molecular Genetics and Metabolism. 142(1). 108347–108347. 2 indexed citations

Brands, Marion M., K. Ravi Acharya, Arthur A. Bergen, et al.. (2024). A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions. Molecular Genetics and Metabolism. 143(4). 108609–108609. 1 indexed citations

Fuchs, Claudia, et al.. (2024). Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?. Frontiers in Medicine. 11. 1425038–1425038. 2 indexed citations

Brands, Marion M., Lonneke de Boer, Charlotte A. Haaxma, et al.. (2023). Oral sialic acid supplementation inNANS‐CDG: Results of a single center, open‐label, observational pilot study. Journal of Inherited Metabolic Disease. 46(5). 956–971. 1 indexed citations

Gill, Harinder, Margaret L. McKinnon, Bertrand Isidor, et al.. (2020). SETD1B-associated neurodevelopmental disorder. Journal of Medical Genetics. 58(3). 196–204. 19 indexed citations

Tseng, Laura A., et al.. (2020). A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND). Frontiers in Neurology. 10. 1369–1369. 16 indexed citations

Karnebeek, Clara van, Ellen Kim, Patricia Birch, et al.. (2019). The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders. Genetics in Medicine. 22(2). 292–300. 34 indexed citations

Lee, Jessica J. Y., Wyeth W. Wasserman, Georg F. Hoffmann, Clara van Karnebeek, & Nenad Blau. (2017). Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. Genetics in Medicine. 20(1). 151–158. 63 indexed citations

10.

Horváth, Gabriella, Maja Tarailo‐Graovac, Margot I. Van Allen, et al.. (2017). Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome. Journal of Child Neurology. 33(1). 106–113. 17 indexed citations

11.

Townsend, Katelin N., Casper Shyr, Allison Matthews, et al.. (2016). Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. Molecular Case Studies. 3(1). a001156–a001156. 10 indexed citations

12.

Lee, Jessica J. Y., Clara van Karnebeek, Britt I. Drögemöller, et al.. (2016). Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy. SHILAP Revista de lepidopterología. 3. 2329048X16669912–2329048X16669912. 13 indexed citations

13.

Jaggumantri, Sravan, Mary Dunbar, Theresa Newlove, et al.. (2015). Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements. Pediatric Neurology. 53(4). 360–363.e2. 20 indexed citations

14.

Karnebeek, Clara van, et al.. (2015). Costs of caring for children with an intellectual developmental disorder. Disability and health journal. 8(4). 646–651. 38 indexed citations

15.

Dunbar, Mary, Sravan Jaggumantri, Michael A. Sargent, Sylvia Stöckler‐Ipsiroglu, & Clara van Karnebeek. (2014). Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. Molecular Genetics and Metabolism. 112(4). 259–274. 48 indexed citations

16.

Karnebeek, Clara van & Sylvia Stöckler‐Ipsiroglu. (2014). Cerebral Creatine Deficiencies: A Group of Treatable Intellectual Developmental Disorders. Seminars in Neurology. 34(3). 350–356. 44 indexed citations

17.

Karnebeek, Clara van, Gabriella Horváth, Jacqueline Purtzki, et al.. (2014). Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy. JIMD Reports. 15. 113–6. 16 indexed citations

18.

Karnebeek, Clara van, Graham Sinclair, Alan Hill, et al.. (2013). Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing. Molecular Genetics and Metabolism. 110(4). 465–471. 9 indexed citations

19.

Karnebeek, Clara van, et al.. (2004). Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. European Journal of Human Genetics. 13(1). 6–25. 177 indexed citations

20.

Merks, Johannes H. M., Clara van Karnebeek, Hubert Caron, & Raoul C. M. Hennekam. (2003). Phenotypic abnormalities: Terminology and classification. American Journal of Medical Genetics Part A. 123A(3). 211–230. 90 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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