Clara van Karnebeek

8.0k citations

118 papers · 3.5k indexed · h-index 34

Molecular Biology top 5%
Genetics top 1%
Clinical Biochemistry top 0.1%
Pediatrics, Perinatology and Child Health top 2%
Biochemistry top 1%

Co-authors: Sylvia Stöckler Raoul C. M. Hennekam Carlos R. Ferreira Wyeth W. Wasserman Sylvia Stöckler‐Ipsiroglu Maja Tarailo‐Graovac Nenad Blau Sravan Jaggumantri
Topics: Genomics and Rare Diseases (44 papers)Metabolism and Genetic Disorders (39 papers)Genetics and Neurodevelopmental Disorders (24 papers)
Cited by: Clinical Biochemistry Genetics Biochemistry
Journals: Journal of Biological ChemistrySHILAP Revista de lepidopterologíaAnalytical Chemistry
Partner nations: Canada Netherlands United States

In The Last Decade

Clara van Karnebeek

115 papers receiving 3.4k citations

Peers

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

#	Work	Indexed citations
1	Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy 2025 ·Analytical Chemistry ·(unknown),(unknown),Kas J. Houthuijs,(unknown),Valerie Gailus-Durner,Stefanie Leuchtenberger,Helmut Fuchs,Martin Hrabě de Angelis,Udo F. H. Engelke,Dirk J. Lefeber,Clara van Karnebeek,Ron A. Wevers,(unknown),(unknown),Michiel Vandenbosch,Rob J. Vreeken,Ron M. A. Heeren,Giel Berden,Jos Oomens,Jonathan Martens	1
2	Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen 2024 ·Molecular Genetics and Metabolism ·(unknown),Marion M. Brands,Ilse J.M. Nijhuis,(unknown),(unknown),G.H. Hofsteenge,Bart G.P. Koot,(unknown),Laura A. Tseng,Erik S.G. Stroes,Peter M. van de Ven,Albert Wiegman,Clara van Karnebeek	2
3	A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions 2024 ·Molecular Genetics and Metabolism ·Marion M. Brands,(unknown),K. Ravi Acharya,Arthur A. Bergen,Nicola Brunetti‐Pierri,Mark J. Buijs,Barbara Cellini,(unknown),Mandeep Singh,Andreas Schulze,(unknown),David Valle,Ronald J. A. Wanders,Kirmo Wartiovaara,Clara van Karnebeek	1
4	Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity? 2024 ·Frontiers in Medicine ·Claudia Fuchs,Peter A.C. ’t Hoen,(unknown),Friederike Ehrhart,Clara van Karnebeek	2
5	Oral sialic acid supplementation inNANS‐CDG: Results of a single center, open‐label, observational pilot study 2023 ·Journal of Inherited Metabolic Disease ·(unknown),Marion M. Brands,Lonneke de Boer,Charlotte A. Haaxma,Anna Lengyel,(unknown),(unknown),(unknown),Willemijn M. Klein,Karlien L. M. Coene,Dirk J. Lefeber,Clara van Karnebeek	1
6	Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child? 2023 ·Genetics in Medicine ·Jan M. Friedman,Yvonne Bombard,Bruce Carleton,Amalia M. Issa,Bartha Maria Knoppers,Sharon E. Plon,Vasiliki Rahimzadeh,Mary V. Relling,Marc S. Williams,Clara van Karnebeek,Danya F. Vears,Martina C. Cornel	4
7	SETD1B-associated neurodevelopmental disorder 2020 ·Journal of Medical Genetics ·(unknown),(unknown),Harinder Gill,Margaret L. McKinnon,Bertrand Isidor,Benjamin Cogné,Jill Mwenifumbo,Clara van Karnebeek,Jianghong An,Steven J.M. Jones,Matthew J. Farrer,Michelle Demos,Mary Connolly,William T. Gibson,(unknown)	19
8	A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND) 2020 ·Frontiers in Neurology ·(unknown),(unknown),Laura A. Tseng,(unknown),Agnies M. van Eeghen,Carlos R. Ferreira,Clara van Karnebeek	16
9	The variability conundrum in neurometabolic degenerative diseases 2020 ·Molecular Genetics and Metabolism ·Clara van Karnebeek,Phillip A. Richmond,Frans van der Kloet,Wyeth W. Wasserman,Marc Engelen,Stephan Kemp	2
10	The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders 2019 ·Genetics in Medicine ·(unknown),Clara van Karnebeek,(unknown),(unknown),Ellen Kim,Patricia Birch,Shelin Adam,(unknown),Christèle du Souich,Alison M. Elliott,Anna Lehman,Larry D. Lynd,Jill Mwenifumbo,Tanya N. Nelson,Jan M. Friedman,(unknown)	34
11	Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype 2018 ·Neuroscience ·Gabriella Horváth,Yulin Zhao,Maja Tarailo‐Graovac,Cyrus Boelman,Harinder Gill,Casper Shyr,James Lee,(unknown),Britt I. Drögemöller,(unknown),Colin J.D. Ross,Wyeth W. Wasserman,Andrea Masotti,Paul A. Slesinger,Clara van Karnebeek	20
12	A proposed nosology of inborn errors of metabolism 2018 ·Genetics in Medicine ·Carlos R. Ferreira,Clara van Karnebeek,Jerry Vockley,Nenad Blau	153
13	Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism 2017 ·Genetics in Medicine ·Jessica J. Y. Lee,Wyeth W. Wasserman,Georg F. Hoffmann,Clara van Karnebeek,Nenad Blau	63
14	Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders 2017 ·Genetics in Medicine ·Maja Tarailo‐Graovac,Jing Zhu,Allison Matthews,Clara van Karnebeek,Wyeth W. Wasserman	48
15	Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation 2016 ·Molecular Case Studies ·(unknown),Katelin N. Townsend,Casper Shyr,Allison Matthews,Scott A. Lear,(unknown),Anna Lehman,Wyeth W. Wasserman,Clara van Karnebeek,Graham Sinclair,Hilary Vallance,William T. Gibson	10
16	Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements 2015 ·Pediatric Neurology ·Sravan Jaggumantri,Mary Dunbar,(unknown),(unknown),Theresa Newlove,Rajavel Elango,Jean Paul Collet,Michael A. Sargent,Sylvia Stöckler‐Ipsiroglu,Clara van Karnebeek	20
17	Costs of caring for children with an intellectual developmental disorder 2015 ·Disability and health journal ·(unknown),Clara van Karnebeek,Patricia Birch	38
18	Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome 2015 ·Molecular Genetics and Metabolism ·Curtis R. Coughlin,Clara van Karnebeek,Walla Al‐Hertani,Andrew Y. Shuen,Sravan Jaggumantri,Rhona M. Jack,Sommer Gaughan,(unknown),David M. Mirsky,Renata C. Gallagher,Johan L.K. Van Hove	83
19	Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability 2015 ·The American Journal of Human Genetics ·Asbjørg Stray‐Pedersen,Jan-Maarten Cobben,Trine Prescott,Sora Lee,Chunlei Cang,Kimberly Aranda,Sohnee Ahmed,Mariëlle Alders,Thorsten Gerstner,(unknown),Martine Tétreault,Wen Qin,Taila Hartley,Shalini N. Jhangiani,Donna M. Muzny,Maja Tarailo‐Graovac,Clara van Karnebeek,James R. Lupski,Dejian Ren,Grace Yoon	35
20	Metabolic Diet App Suite for inborn errors of amino acid metabolism 2015 ·Molecular Genetics and Metabolism ·Gloria Ho,Keiko Ueda,(unknown),(unknown),(unknown),(unknown),Clara van Karnebeek	27

About Clara van Karnebeek

Clara van Karnebeek is a scholar working on Clinical Biochemistry, Genetics and Biochemistry, having authored 118 papers that have together received 3.5k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (44 papers), Metabolism and Genetic Disorders (39 papers) and Genetics and Neurodevelopmental Disorders (24 papers). The work is most often cited by research in Clinical Biochemistry (1.2k citations), Genetics (1.4k citations) and Biochemistry (339 citations). Clara van Karnebeek has collaborated with scholars based in Canada, Netherlands and United States. Frequent 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. Their work appears in journals such as Journal of Biological Chemistry, SHILAP Revista de lepidopterología and Analytical Chemistry.

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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