Author

Julia Neugebauer

Charité – Universitätsmedizin BerlinORCID 0000-0002-2576-1012Unclaimed 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

Mutual co-authors in cluster

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1 paper

Recent·Most cited

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, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike L. Sczakiel, Sarina Schwartzmann, Martin A. Mensah, , 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.

medRxiv · Apr 19, 2023 · PreprintGenetic & Genomic Medicine