Author

Kai Muru

Tartu University HospitalORCID 0000-0003-2518-6828Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:proteomics· 1

Frequent Co-Authors

Katrin ÕunapiD· 2 shared Sander PajusaluiD· 2 shared Angel AshikoviD· 1 shared Christopher T. GordoniD· 1 shared Dirk J. LefeberiD· 1 shared Divya PachatiD· 1 shared Eden EngaliD· 1 shared Eveline C. F. GerretseniD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Katrin ÕunapORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 19, 2023

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

Eden Engal, Kaisa Teele Oja, Reza Maroofian…·Hagar Mor‐Shaked

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

2 citations

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedOct 28, 2021

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov…·Geert van den Bogaart

This study identifies a congenital disorder of glycosylation caused by a missense variant in the second starting methionine of syntaxin-5, leading to loss of the short isoform and multisystem disease.

23 citations

humanproteomics

𝕏 PostBluesky