Author

Ania Carolina Muntau

University Medical Center Hamburg-EppendorfORCID 0000-0002-2900-8378Unclaimed 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 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra Marzena Morawiec· 1 shared Alexandra Tibelius· 1 shared Alexej KnausiD· 1 shared Alma Kuechler· 1 shared Amalia-Mihaela Hanßke· 1 shared André Heimbach· 1 shared André HeineniD· 1 shared Angela Maria KaindliD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra Marzena Morawiec

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 19, 2023

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

12 citations

humanwhole-exome sequencing

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