Author

Katharina Löhner

University of Groningen

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 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:metagenomics· 1 Assay:proteomics· 1

Frequent Co-Authors

Alexander P.A. StegmanniD· 1 shared Bert B.A. de Vries· 1 shared Christian GilisseniD· 1 shared Dragony FuiD· 1 shared Erik-Jan Kamsteeg· 1 shared Ernie M.H.F. Bongers· 1 shared Han G. BrunneriD· 1 shared Helger G. YntemaiD· 1 shared

Activity by Year

2016-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Alexander P.A. StegmannORCID

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2 papers

Recent·Most cited

Epileptic encephalopathy linked to a DALRD3 missense variant impaired in tRNA modification function

Kejia Zhang, Katharina Löhner, Henny H. Lemmink, Maartje Boon, Jenna M. Lentini, Naduni de Silva, Dragony Fu

The paper identifies a DALRD3 missense variant causing epileptic encephalopathy by impairing tRNA modification function.

medRxiv · May 21, 2024 · PreprintGenetic & Genomic Medicine

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, , Christian Gilissen

This study identifies 10 novel candidate genes for intellectual disability through a meta-analysis of de novo mutations from 2,104 trios.

bioRxiv · May 11, 2016Genetics