Author

Edwin H. Jacobs

Erasmus MC

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:batch correction / integration· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:metabolomics· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

A. Gulhan Ercan‐SencicekiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alice S. BrooksiD· 1 shared Amber Hogart BegtrupiD· 1 shared Amna Mohammed Al-FutaisiiD· 1 shared Anita Nikoncuk· 1 shared Ans van der Ploeg· 1 shared Atieh EslahiiD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

A. Gulhan Ercan‐SencicekORCID

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2 papers

Recent·Most cited

Screening for inborn errors of metabolism using untargeted metabolomics and out-of-batch controls

Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmée Oussoren, Ans van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M.W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter

The paper develops a normalization method for untargeted metabolomics data to reduce batch effects and improve detection of metabolic biomarkers using out-of-batch controls.

Metabolites · Dec 25, 2020Peer-reviewedBioinformatics

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, , Tahsin Stefan Barakat

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

Acta Neuropathologica · Dec 9, 2019Peer-reviewedGenetics