Author

Annemarie Schwan

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

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 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 Katharina SchoneriD· 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

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

Sonja Neuser, Ilona Krey, Annemarie Schwan, Rami Abou Jamra, Tobias Bartolomaeus, Jan Henje Döring, Steffen Syrbe, Margit Plassmann, Stefan Rohde, Christian Roth, Helga Rehder, Maximilian Radtke, Diana Le Duc, Susanna Schubert, Luis Bermúdez-Guzmán, , 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.

European Journal of Human Genetics · Oct 25, 2021Peer-reviewedGenetic & Genomic Medicine