Author

Laura A. Jansen

Washington University in St. LouisORCID 0000-0002-7936-3140Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:metabolomics· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Arno van Rooij· 1 shared Blair R. LeavittiD· 1 shared Clara van KarnebeekiD· 1 shared Eduard A. StruysiD· 1 shared Erik de VriezeiD· 1 shared Erwin van WijkiD· 1 shared Floris P. J. T. RutjesiD· 1 shared Fred A. M. G. van GeeneniD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Arno van Rooij

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1 paper

Recent·Most cited

Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications

Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx, Fred A. M. G. van Geenen, Arno van Rooij, Giel Berden, Marleen C.D.G. Huigen, Leo A. J. Kluijtmans, Tessa M. A. Peters, Hilal H. Al-Shekaili, Blair R. Leavitt, Erik de Vrieze, Sanne Broekman, Erwin van Wijk, Laura A. Tseng, , Karlien L. M. Coene

The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.

Journal of Clinical Investigation · Jun 17, 2021Peer-reviewedGenetic & Genomic Medicine