Author

Krishna Kumar Kandaswamy

Centogene (Germany)

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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 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 Alva James· 1 shared Amber Hogart BegtrupiD· 1 shared Amna Mohammed Al-FutaisiiD· 1 shared Anita Nikoncuk· 1 shared Atieh EslahiiD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

A. Gulhan Ercan‐SencicekORCID

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2 papers

Recent·Most cited

Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson's disease pathogenesis.

Emma N. Somerville, Alva James, Christian Beetz, Robert Schwieger, Gal Barrel, Krishna Kumar Kandaswamy, Marius I. Iurascu, Peter O. Bauer, Michael Ta, Hirotaka Iwaki, Konstantin A. Senkevich, Eric Yu, Roy N. Alcalay, Ziv Gan‐Or

The paper investigates the role of ATP10D and GlcCer in Parkinson's disease, finding ATP10D regulates plasma GlcCer levels but is not involved in PD pathogenesis.

Annals of Neurology · Mar 1, 2025Peer-reviewedGenetic & Genomic Medicine

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