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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9.
Genet Med. 2023.
PMID: 36350326
Free article.
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
Hoegen B, Hampstead JE, Engelke UFH, Kulkarni P, Wevers RA, Brunner HG, Coene KLM, Gilissen C.
Hoegen B, et al.
J Inherit Metab Dis. 2022 Jul;45(4):682-695. doi: 10.1002/jimd.12522. Epub 2022 May 22.
J Inherit Metab Dis. 2022.
PMID: 35546254
Free PMC article.
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Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Hoegen B, Zammit A, Gerritsen A, Engelke UFH, Castelein S, van de Vorst M, Kluijtmans LAJ, Huigen MCDG, Wevers RA, van Gool AJ, Gilissen C, Coene KLM, Kulkarni P.
Hoegen B, et al.
Metabolites. 2021 Aug 26;11(9):568. doi: 10.3390/metabo11090568.
Metabolites. 2021.
PMID: 34564390
Free PMC article.
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QualitySNPng: a user-friendly SNP detection and visualization tool.
Nijveen H, van Kaauwen M, Esselink DG, Hoegen B, Vosman B.
Nijveen H, et al. Among authors: hoegen b.
Nucleic Acids Res. 2013 Jul;41(Web Server issue):W587-90. doi: 10.1093/nar/gkt333. Epub 2013 Apr 30.
Nucleic Acids Res. 2013.
PMID: 23632165
Free PMC article.
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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA.
Coene KLM, et al. Among authors: hoegen b.
J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16.
J Inherit Metab Dis. 2018.
PMID: 29453510
Free PMC article.
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