Author

Katharina Schoner

Philipps University of MarburgORCID 0000-0001-8946-7034Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alejandro LealiD· 1 shared Annemarie Schwan· 1 shared Bernt PoppiD· 1 shared Christian RothiD· 1 shared Diana Le DuciD· 1 shared Helga RehderiD· 1 shared Ilona KreyiD· 1 shared Jan Henje DöringiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alejandro LealORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 25, 2021

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

Sonja Neuser, Ilona Krey, Annemarie Schwan…·Bernt Popp

The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.

8 citations

humanwhole-exome sequencing

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